GGRNA Home | Help | Advanced search

2024-04-25 19:39:36, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001343               4617 bp    mRNA    linear   PRI 16-JUN-2013
DEFINITION  Homo sapiens Dab, mitogen-responsive phosphoprotein, homolog 2
            (Drosophila) (DAB2), transcript variant 1, mRNA.
ACCESSION   NM_001343
VERSION     NM_001343.3  GI:349585057
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4617)
  AUTHORS   Kottgen,A., Albrecht,E., Teumer,A., Vitart,V., Krumsiek,J.,
            Hundertmark,C., Pistis,G., Ruggiero,D., O'Seaghdha,C.M., Haller,T.,
            Yang,Q., Tanaka,T., Johnson,A.D., Kutalik,Z., Smith,A.V., Shi,J.,
            Struchalin,M., Middelberg,R.P., Brown,M.J., Gaffo,A.L., Pirastu,N.,
            Li,G., Hayward,C., Zemunik,T., Huffman,J., Yengo,L., Zhao,J.H.,
            Demirkan,A., Feitosa,M.F., Liu,X., Malerba,G., Lopez,L.M., van der
            Harst,P., Li,X., Kleber,M.E., Hicks,A.A., Nolte,I.M., Johansson,A.,
            Murgia,F., Wild,S.H., Bakker,S.J., Peden,J.F., Dehghan,A.,
            Steri,M., Tenesa,A., Lagou,V., Salo,P., Mangino,M., Rose,L.M.,
            Lehtimaki,T., Woodward,O.M., Okada,Y., Tin,A., Muller,C.,
            Oldmeadow,C., Putku,M., Czamara,D., Kraft,P., Frogheri,L.,
            Thun,G.A., Grotevendt,A., Gislason,G.K., Harris,T.B., Launer,L.J.,
            McArdle,P., Shuldiner,A.R., Boerwinkle,E., Coresh,J., Schmidt,H.,
            Schallert,M., Martin,N.G., Montgomery,G.W., Kubo,M., Nakamura,Y.,
            Tanaka,T., Munroe,P.B., Samani,N.J., Jacobs,D.R. Jr., Liu,K.,
            D'Adamo,P., Ulivi,S., Rotter,J.I., Psaty,B.M., Vollenweider,P.,
            Waeber,G., Campbell,S., Devuyst,O., Navarro,P., Kolcic,I.,
            Hastie,N., Balkau,B., Froguel,P., Esko,T., Salumets,A., Khaw,K.T.,
            Langenberg,C., Wareham,N.J., Isaacs,A., Kraja,A., Zhang,Q.,
            Wild,P.S., Scott,R.J., Holliday,E.G., Org,E., Viigimaa,M.,
            Bandinelli,S., Metter,J.E., Lupo,A., Trabetti,E., Sorice,R.,
            Doring,A., Lattka,E., Strauch,K., Theis,F., Waldenberger,M.,
            Wichmann,H.E., Davies,G., Gow,A.J., Bruinenberg,M., Stolk,R.P.,
            Kooner,J.S., Zhang,W., Winkelmann,B.R., Boehm,B.O., Lucae,S.,
            Penninx,B.W., Smit,J.H., Curhan,G., Mudgal,P., Plenge,R.M.,
            Portas,L., Persico,I., Kirin,M., Wilson,J.F., Mateo Leach,I., van
            Gilst,W.H., Goel,A., Ongen,H., Hofman,A., Rivadeneira,F.,
            Uitterlinden,A.G., Imboden,M., von Eckardstein,A., Cucca,F.,
            Nagaraja,R., Piras,M.G., Nauck,M., Schurmann,C., Budde,K.,
            Ernst,F., Farrington,S.M., Theodoratou,E., Prokopenko,I.,
            Stumvoll,M., Jula,A., Perola,M., Salomaa,V., Shin,S.Y.,
            Spector,T.D., Sala,C., Ridker,P.M., Kahonen,M., Viikari,J.,
            Hengstenberg,C., Nelson,C.P., Meschia,J.F., Nalls,M.A., Sharma,P.,
            Singleton,A.B., Kamatani,N., Zeller,T., Burnier,M., Attia,J.,
            Laan,M., Klopp,N., Hillege,H.L., Kloiber,S., Choi,H., Pirastu,M.,
            Tore,S., Probst-Hensch,N.M., Volzke,H., Gudnason,V., Parsa,A.,
            Schmidt,R., Whitfield,J.B., Fornage,M., Gasparini,P.,
            Siscovick,D.S., Polasek,O., Campbell,H., Rudan,I., Bouatia-Naji,N.,
            Metspalu,A., Loos,R.J., van Duijn,C.M., Borecki,I.B., Ferrucci,L.,
            Gambaro,G., Deary,I.J., Wolffenbuttel,B.H., Chambers,J.C., Marz,W.,
            Pramstaller,P.P., Snieder,H., Gyllensten,U., Wright,A.F., Navis,G.,
            Watkins,H., Witteman,J.C., Sanna,S., Schipf,S., Dunlop,M.G.,
            Tonjes,A., Ripatti,S., Soranzo,N., Toniolo,D., Chasman,D.I.,
            Raitakari,O., Kao,W.H., Ciullo,M., Fox,C.S., Caulfield,M.,
            Bochud,M. and Gieger,C.
  CONSRTM   LifeLines Cohort Study; CARDIoGRAM Consortium; DIAGRAM Consortium;
            ICBP Consortium; MAGIC Consortium
  TITLE     Genome-wide association analyses identify 18 new loci associated
            with serum urate concentrations
  JOURNAL   Nat. Genet. 45 (2), 145-154 (2013)
   PUBMED   23263486
REFERENCE   2  (bases 1 to 4617)
  AUTHORS   Yang,Y., Zhang,Q., Xu,F., Chang,C. and Li,X.
  TITLE     Aberrant promoter methylation of Dab2 gene in myelodysplastic
            syndrome
  JOURNAL   Eur. J. Haematol. 89 (6), 469-477 (2012)
   PUBMED   23005040
  REMARK    GeneRIF: The Dab2 gene is inactivated in part by DNA methylation,
            and the suppression of Dab2 expression by DNA methylation may play
            a role in the development of myelodysplastic syndrome.
REFERENCE   3  (bases 1 to 4617)
  AUTHORS   Xiao,S., Charonko,J.J., Fu,X., Salmanzadeh,A., Davalos,R.V.,
            Vlachos,P.P., Finkielstein,C.V. and Capelluto,D.G.
  TITLE     Structure, sulfatide binding properties, and inhibition of platelet
            aggregation by a disabled-2 protein-derived peptide
  JOURNAL   J. Biol. Chem. 287 (45), 37691-37702 (2012)
   PUBMED   22977233
  REMARK    GeneRIF: Data indicate that disabled-2 (Dab2) sulfatide-binding
            motif contains two helices when embedded in micelles, reversibly
            binds to sulfatides with moderate affinity, lies parallel to the
            micelle surface.
REFERENCE   4  (bases 1 to 4617)
  AUTHORS   Hung,W.S., Huang,C.L., Fan,J.T., Huang,D.Y., Yeh,C.F., Cheng,J.C.
            and Tseng,C.P.
  TITLE     The endocytic adaptor protein Disabled-2 is required for cellular
            uptake of fibrinogen
  JOURNAL   Biochim. Biophys. Acta 1823 (10), 1778-1788 (2012)
   PUBMED   22705885
  REMARK    GeneRIF: These findings thereby define an adaptor-specific
            mechanism in the control of fibrinogen uptake and implicate that
            DAB2 is the key adaptor in the clathrin-associated endocytic
            complexes to mediate fibrinogen internalization.
REFERENCE   5  (bases 1 to 4617)
  AUTHORS   Kim,J.D., Kang,H., Larrivee,B., Lee,M.Y., Mettlen,M., Schmid,S.L.,
            Roman,B.L., Qyang,Y., Eichmann,A. and Jin,S.W.
  TITLE     Context-dependent proangiogenic function of bone morphogenetic
            protein signaling is mediated by disabled homolog 2
  JOURNAL   Dev. Cell 23 (2), 441-448 (2012)
   PUBMED   22898784
  REMARK    GeneRIF: inhibition of Dab2 decreases phosphorylation of SMAD-1, 5,
            and 8
REFERENCE   6  (bases 1 to 4617)
  AUTHORS   Fazili,Z., Sun,W., Mittelstaedt,S., Cohen,C. and Xu,X.X.
  TITLE     Disabled-2 inactivation is an early step in ovarian tumorigenicity
  JOURNAL   Oncogene 18 (20), 3104-3113 (1999)
   PUBMED   10340382
REFERENCE   7  (bases 1 to 4617)
  AUTHORS   Mok,S.C., Chan,W.Y., Wong,K.K., Cheung,K.K., Lau,C.C., Ng,S.W.,
            Baldini,A., Colitti,C.V., Rock,C.O. and Berkowitz,R.S.
  TITLE     DOC-2, a candidate tumor suppressor gene in human epithelial
            ovarian cancer
  JOURNAL   Oncogene 16 (18), 2381-2387 (1998)
   PUBMED   9620555
REFERENCE   8  (bases 1 to 4617)
  AUTHORS   Xu,X.X., Yi,T., Tang,B. and Lambeth,J.D.
  TITLE     Disabled-2 (Dab2) is an SH3 domain-binding partner of Grb2
  JOURNAL   Oncogene 16 (12), 1561-1569 (1998)
   PUBMED   9569023
REFERENCE   9  (bases 1 to 4617)
  AUTHORS   Albertsen,H.M., Smith,S.A., Melis,R., Williams,B., Holik,P.,
            Stevens,J. and White,R.
  TITLE     Sequence, genomic structure, and chromosomal assignment of human
            DOC-2
  JOURNAL   Genomics 33 (2), 207-213 (1996)
   PUBMED   8660969
REFERENCE   10 (bases 1 to 4617)
  AUTHORS   Mok,S.C., Wong,K.K., Chan,R.K., Lau,C.C., Tsao,S.W., Knapp,R.C. and
            Berkowitz,R.S.
  TITLE     Molecular cloning of differentially expressed genes in human
            epithelial ovarian cancer
  JOURNAL   Gynecol. Oncol. 52 (2), 247-252 (1994)
   PUBMED   8314147
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB989218.1, AK314381.1,
            U53446.1, AF188298.1, AK130136.1 and AI739507.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Oct 5, 2011 this sequence version replaced gi:148491081.
            
            Summary: This gene encodes a mitogen-responsive phosphoprotein. It
            is expressed in normal ovarian epithelial cells, but is
            down-regulated or absent from ovarian carcinoma cell lines,
            suggesting its role as a tumor suppressor. This protein binds to
            the SH3 domains of GRB2, an adaptor protein that couples tyrosine
            kinase receptors to SOS (a guanine nucleotide exchange factor for
            Ras), via its C-terminal proline-rich sequences, and may thus
            modulate growth factor/Ras pathways by competing with SOS for
            binding to GRB2. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U53446.1, BC003064.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-412               CB989218.1         28-439
            413-2044            AK314381.1         161-1792
            2045-3123           U53446.1           1658-2736
            3124-3237           AF188298.1         2618-2731
            3238-4597           AK130136.1         1248-2607
            4598-4617           AI739507.1         1-20                c
FEATURES             Location/Qualifiers
     source          1..4617
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13"
     gene            1..4617
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /note="Dab, mitogen-responsive phosphoprotein, homolog 2
                     (Drosophila)"
                     /db_xref="GeneID:1601"
                     /db_xref="HGNC:2662"
                     /db_xref="MIM:601236"
     exon            1..430
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     variation       104
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3756456"
     misc_feature    421..423
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /note="upstream in-frame stop codon"
     exon            431..622
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     STS             454..580
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /standard_name="SGC34152"
                     /db_xref="UniSTS:59438"
     variation       461
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1050903"
     CDS             532..2844
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     disabled homolog 2, mitogen-responsive phosphoprotein;
                     differentially-expressed protein 2"
                     /codon_start=1
                     /product="disabled homolog 2 isoform 1"
                     /protein_id="NP_001334.2"
                     /db_xref="GI:148491082"
                     /db_xref="CCDS:CCDS34149.1"
                     /db_xref="GeneID:1601"
                     /db_xref="HGNC:2662"
                     /db_xref="MIM:601236"
                     /translation="
MSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGMAAAGRSQGQHKQRIWVNISLSGIKIIDEKTGVIEHEHPVNKISFIARDVTDNRAFGYVCGGEGQHQFFAIKTGQQAEPLVVDLKDLFQVIYNVKKKEEEKKKIEEASKAVENGSEALMILDDQTNKLKSGVDQMDLFGDMSTPPDLNSPTESKDILLVDLNSEIDTNQNSLRENPFLTNGITSCSLPRPTPQASFLPENAFSANLNFFPTPNPDPFRDDPFTQPDQSTPSSFDSLKSPDQKKENSSSSSTPLSNGPLNGDVDYFGQQFDQISNRTGKQEAQAGPWPFSSSQTQPAVRTQNGVSEREQNGFSVKSSPNPFVGSPPKGLSIQNGVKQDLESSVQSSPHDSIAIIPPPQSTKPGRGRRTAKSSANDLLASDIFAPPVSEPSGQASPTGQPTALQPNPLDLFKTSAPAPVGPLVGLGGVTVTLPQAGPWNTASLVFNQSPSMAPGAMMGGQPSGFSQPVIFGTSPAVSGWNQPSPFAASTPPPVPVVWGPSASVAPNAWSTTSPLGNPFQSNIFPAPAVSTQPPSMHSSLLVTPPQPPPRAGPPKDISSDAFTALDPLGDKEIKDVKEMFKDFQLRQPPAVPARKGEQTSSGTLSAFASYFNSKVGIPQENADHDDFDANQLLNKINEPPKPAPRQVSLPVTKSTDNAFENPFFKDSFGSSQASVASSQPVSSEMYRDPFGNPFA
"
     misc_feature    601..603
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01499"
     misc_feature    601..603
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01501"
     misc_feature    601..603
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01502"
     misc_feature    655..1041
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /note="Pleckstrin homology-like domain; Region: PH-like;
                     cl00273"
                     /db_xref="CDD:206947"
     misc_feature    order(673..696,802..822,829..849,895..909,928..942,
                     967..981,1000..1026)
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /note="PH-like core; other site"
                     /db_xref="CDD:176275"
     misc_feature    1192..1194
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1210..1212
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1219..1872
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: Required for localization to clathrin-coated pits
                     (By similarity)"
     misc_feature    1408..1416
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: DPF 1"
     misc_feature    1423..1431
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: DPF 2"
     misc_feature    1555..1557
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1708..1710
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1711..1713
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1732..1734
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P98082.3); phosphorylation site"
     misc_feature    1732..1734
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1732..1734
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1795..1797
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    2341..2727
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: Sufficient for interaction with GRB2 (By
                     similarity)"
     misc_feature    2386..2412
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: Required for interaction with CSK (By similarity)"
     misc_feature    2476..2841
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: Required for interaction with MYO6 (By
                     similarity)"
     misc_feature    2518..2544
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: Required for interaction with GRB2 and CSK (By
                     similarity)"
     misc_feature    2656..2706
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98082.3);
                     Region: Sufficient for interaction with SH3KBP1 SH3 domain
                     (By similarity)"
     exon            623..762
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     variation       672
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1050907"
     exon            763..861
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     variation       775..776
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2738230"
     exon            862..993
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     variation       973
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1131363"
     exon            994..1074
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     exon            1075..1101
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     exon            1102..1155
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     exon            1156..1218
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     exon            1219..1872
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     variation       1367
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1802925"
     STS             1409..1820
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /standard_name="DAB2"
                     /db_xref="UniSTS:505776"
     exon            1873..2035
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     exon            2036..2668
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     variation       2432
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3733801"
     exon            2669..2778
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     exon            2779..2849
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     exon            2850..4601
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /inference="alignment:Splign:1.39.8"
     variation       2876
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:9487"
     variation       2959
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1802927"
     STS             3025..3183
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /standard_name="G54013"
                     /db_xref="UniSTS:109395"
     polyA_signal    3055..3060
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
     polyA_site      3080
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
     variation       3124
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4578"
     polyA_signal    3218..3223
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
     polyA_site      3237
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
     STS             3324..3600
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /standard_name="RH67769"
                     /db_xref="UniSTS:74049"
     variation       3388
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1802926"
     variation       3631
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200337444"
     variation       3645..3646
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace=""
                     /replace="a"
                     /replace="aaa"
                     /db_xref="dbSNP:4018989"
     STS             4208..4327
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /standard_name="RH103057"
                     /db_xref="UniSTS:97391"
     variation       4227
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1046033"
     variation       4445
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2738240"
     variation       4457
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2738241"
     variation       4515
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2738242"
     polyA_signal    4551..4556
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
     polyA_signal    4577..4582
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
     polyA_site      4601
                     /gene="DAB2"
                     /gene_synonym="DOC-2; DOC2"
ORIGIN      
gtccttatttgcacccgccccccgcccgcgtcggtctggggcttttgacttctccccgaacacatttcccctcccgtcgctgggtccctgcgatcgcccccagctggtggggctcgcggagctcaggggagcggggtcctctgcgccgctgcagcgcgagttaataaacagttaagtttggaagactctgcagacacgttgagggggagttaccaagcccaggcagcaaaaacatcctggcacattcctggggagtcctcagctgccagcatctgattagaaccatatctctcgccgggagtggccgcgcggctccgaagctcccggccggcggctatttaagcgaggcccgccgcatccgctgcgctgtagcctggaggctccgggcgcggggaagtcatgctcgcttcacggaggcaatagctagccggtgtctgtgggaggttatgtttatttgagacttctccatcgggatcgcctggtgtcaccaagtgtccactggtactgaggtttgctgcctgccttcttgccatgtctaacgaagtagaaacaagtgcaaccaatggtcagcccgaccaacaggccgcaccaaaagcaccctcaaagaaggaaaaaaagaaaggccctgaaaagacagatgaatatctcttagcaaggttcaaaggcgatggtgtaaaatataaggccaagctgattggcattgatgatgtgccagatgcaagaggggataaaatgagccaagactctatgatgaaactaaagggaatggcggcagctggtcggtctcagggacaacacaaacaaaggatctgggtcaacatttccctttctgggataaaaataattgatgagaaaactggggtaatagagcatgaacatccagtaaataagatttctttcattgcccgtgatgtgacagacaaccgggcatttggttacgtgtgtggaggagaaggccagcatcagttttttgccataaaaaccgggcaacaggctgaaccattagttgttgatcttaaagacctttttcaagttatctataatgtaaagaaaaaggaagaagaaaagaaaaagatagaggaagccagcaaagcagttgagaatgggagtgaggccctaatgattctagatgaccaaactaacaaactgaaatcgggtgttgaccagatggatttgtttggggacatgtctacacctcctgacctaaatagtccaacagaaagcaaagatatcctgttagtggatctaaactctgaaatcgacaccaatcagaattctttaagagaaaatccattcttaacaaacggcatcacctcctgttctcttcctcgaccaacgcctcaggcatccttcttgcctgaaaatgccttttctgccaatctcaacttctttcccacccctaatcctgatcctttccgtgacgatcctttcacacagccagaccaatcgacaccttcttcgtttgattctctcaaatctccagatcagaagaaagagaattcgagtagctcgtctactccgctgagtaatgggcccctgaatggtgatgttgactactttggtcagcaatttgaccagatctctaaccggactggcaaacaggaagctcaggcaggcccatggcccttttcaagttcgcaaacccagccagcagtgagaactcaaaatggggtatctgaaagagaacagaacggcttctctgtcaaatcctccccgaacccttttgtgggaagccctcccaaaggactgtccatacagaatggcgtaaagcaggacttggaaagctctgtccagtcctcaccacatgactccatagccattatcccacctccacaaagtaccaaaccaggaagaggcagaaggactgctaagtcttcagccaatgacttgcttgcatcagacatctttgctcctcccgtctcagaaccttcaggccaggcgtcacccacaggacaacctacagccctgcagcccaaccctctggatctcttcaaaacaagtgctcctgccccagtggggcccctggtgggtctaggtggtgtaactgtcacactccctcaggcaggaccatggaacacagcatctttggtcttcaatcagtccccttcaatggctccgggagccatgatgggtggtcaaccttcaggttttagtcagcccgtcatttttggtacaagtccagctgtttcaggttggaaccagccttcaccctttgcagcctcaactccccctccagtgcctgttgtctggggcccttctgcatctgtggcacccaatgcttggtcaacaacaagccctttggggaatccttttcagagcaatatttttccagctcctgctgtgtccactcagcccccatccatgcactcctctctcctggtcactcctcctcagccacctcccagagctggccctcccaaggacatctccagtgatgccttcactgccttagacccacttggggataaagagatcaaggatgtgaaagaaatgtttaaggatttccaactgcggcagccacctgctgtgcccgcgcggaagggagagcagacttcttctgggactttgagtgcctttgccagttatttcaacagcaaggttggcattcctcaggagaatgcagaccatgatgactttgatgctaatcaactattgaacaagatcaatgaaccaccaaagccagctcccagacaagtttccctgccagttaccaaatctactgacaatgcatttgagaaccctttctttaaagattcttttggttcatcacaagcctctgtggcttcttctcaacctgtatcttctgagatgtatagggatccatttggaaatccttttgcctaaattctgaacttggtctgcagaccatccagaggaataaaaaggttggccttagtagtcaaaaacaaagctgatagccagacacgttctgatttctgcccttgttccagctttgacgtattatctgttgccttatttctcattgcctcttctacttgtaaaatgcttttcactttctgtctaggttaaagctaaactgaatctatggctttaaataaattaagatcctaaactctctagcttaagtgtaaatgaagtacagtagtttccctactgaaccctgcctcttgtgtccctggaaccttctagaacacctgccttctaccctctggttgggagatgcagccaccacatcccttcatatcatactgttttgaataaattttcaaatccttattgttcagagttgtttgggggttctgtttcagagcataaaacctaaaggttatagtagaacaaggcaccttcttaaaagaaatcttgcttcagaccatcagttacagagaatttctaaagtaaaattgaagcaactacaacttctccttagacactttggaatctaaccacttaaggacctttttaaagagatagcttctcttctttctgaagatcaatttctcccaaggccaagattgtccttttctcccatttcttgctagctattgcaaatgagggaagaacattattcatctctcctccccttttttttctgattcttttttcagtcagttttgctcctgggttcaagtagtattaccaccctttcacaagcaacagactctcacagggcaaaaaaaaaaaaaaatctaatgattcacagacagatctggagcctctcttcattctcagtaattgctagtcccaagaactagaattgcaaatgggcacaacctatatccttcctgtggaagaggaggccactctcttgagctgaagttccagaagagcagttaatgttcaagagaaattgaactcaactcagcaacaaaggactctattttgaagagcaacatatcacaaagctaaatgtgattgtgccaaacacattaggtgcttatttggggtcatgctaggcctttatcaagtaactggaaaacttttcttgcagccacaatctcaatgtcgttagtaggaagataagaggggagaaaaagctgtagaacaaatgtttggggttaccattgaaaatctaatgtctgcaatatttttctcctcacaacttggaaacgttcccagttcattttcagtcctgttgtgagcacagttctgaagggtttattattgtcaaaataagttttgttttgttttgtttatgttgggtttttaatgttgtctcttgacccttaatgctcaggttcttgtgggagttaatcagccacatccaatgttaccttgagggggaagaagagggtgatgctcagaagctaaacaagacaggggccacatgaccctctattgattagccccaagtagaaagtcctgtggttttatgtttaatggtaatagttgatcatatatggcataattttctatcagcttcctactcagtcactataaacacagacttgaaatagtactttaaatgtccaaatacctaaatgtgctaaactggaggtaactatttctaggtagttgaatttttgaaagtcatgatcagccacacaactgttttgtacatacttattttctcatgcacttttctgtatgcaaataaagctataaatttactcatttcaataaactggagtggcagaatatcaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1601 -> Molecular function: GO:0005178 [integrin binding] evidence: IEA
            GeneID:1601 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:1601 -> Molecular function: GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] evidence: IEA
            GeneID:1601 -> Molecular function: GO:0008022 [protein C-terminus binding] evidence: IPI
            GeneID:1601 -> Molecular function: GO:0035612 [AP-2 adaptor complex binding] evidence: IEA
            GeneID:1601 -> Molecular function: GO:0035615 [clathrin adaptor activity] evidence: IMP
            GeneID:1601 -> Molecular function: GO:0038024 [cargo receptor activity] evidence: IMP
            GeneID:1601 -> Molecular function: GO:0046332 [SMAD binding] evidence: IDA
            GeneID:1601 -> Biological process: GO:0000904 [cell morphogenesis involved in differentiation] evidence: IEA
            GeneID:1601 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
            GeneID:1601 -> Biological process: GO:0001921 [positive regulation of receptor recycling] evidence: IEA
            GeneID:1601 -> Biological process: GO:0001934 [positive regulation of protein phosphorylation] evidence: IMP
            GeneID:1601 -> Biological process: GO:0006898 [receptor-mediated endocytosis] evidence: IMP
            GeneID:1601 -> Biological process: GO:0006907 [pinocytosis] evidence: IEA
            GeneID:1601 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:1601 -> Biological process: GO:0007257 [activation of JUN kinase activity] evidence: IEA
            GeneID:1601 -> Biological process: GO:0007492 [endoderm development] evidence: IEA
            GeneID:1601 -> Biological process: GO:0007588 [excretion] evidence: IEA
            GeneID:1601 -> Biological process: GO:0008283 [cell proliferation] evidence: TAS
            GeneID:1601 -> Biological process: GO:0010718 [positive regulation of epithelial to mesenchymal transition] evidence: IDA
            GeneID:1601 -> Biological process: GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] evidence: IDA
            GeneID:1601 -> Biological process: GO:0015031 [protein transport] evidence: IEA
            GeneID:1601 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
            GeneID:1601 -> Biological process: GO:0016055 [Wnt receptor signaling pathway] evidence: IEA
            GeneID:1601 -> Biological process: GO:0030099 [myeloid cell differentiation] evidence: IEA
            GeneID:1601 -> Biological process: GO:0030335 [positive regulation of cell migration] evidence: IEA
            GeneID:1601 -> Biological process: GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway] evidence: IDA
            GeneID:1601 -> Biological process: GO:0032091 [negative regulation of protein binding] evidence: IMP
            GeneID:1601 -> Biological process: GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process] evidence: IMP
            GeneID:1601 -> Biological process: GO:0032968 [positive regulation of transcription elongation from RNA polymerase II promoter] evidence: IEA
            GeneID:1601 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IDA
            GeneID:1601 -> Biological process: GO:0045807 [positive regulation of endocytosis] evidence: IMP
            GeneID:1601 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IMP
            GeneID:1601 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IMP
            GeneID:1601 -> Biological process: GO:0048268 [clathrin coat assembly] evidence: IEA
            GeneID:1601 -> Biological process: GO:0060391 [positive regulation of SMAD protein import into nucleus] evidence: IDA
            GeneID:1601 -> Biological process: GO:0060766 [negative regulation of androgen receptor signaling pathway] evidence: IMP
            GeneID:1601 -> Biological process: GO:0071560 [cellular response to transforming growth factor beta stimulus] evidence: IEA
            GeneID:1601 -> Biological process: GO:0090090 [negative regulation of canonical Wnt receptor signaling pathway] evidence: IMP
            GeneID:1601 -> Biological process: GO:1900026 [positive regulation of substrate adhesion-dependent cell spreading] evidence: IEA
            GeneID:1601 -> Biological process: GO:2000096 [positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway] evidence: IMP
            GeneID:1601 -> Biological process: GO:2000370 [positive regulation of clathrin-mediated endocytosis] evidence: IMP
            GeneID:1601 -> Biological process: GO:2000643 [positive regulation of early endosome to late endosome transport] evidence: IMP
            GeneID:1601 -> Biological process: GO:2001046 [positive regulation of integrin-mediated signaling pathway] evidence: IEA
            GeneID:1601 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
            GeneID:1601 -> Cellular component: GO:0005765 [lysosomal membrane] evidence: TAS
            GeneID:1601 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:1601 -> Cellular component: GO:0005905 [coated pit] evidence: IDA
            GeneID:1601 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA
            GeneID:1601 -> Cellular component: GO:0030132 [clathrin coat of coated pit] evidence: IEA
            GeneID:1601 -> Cellular component: GO:0030665 [clathrin-coated vesicle membrane] evidence: IEA
            GeneID:1601 -> Cellular component: GO:0070022 [transforming growth factor beta receptor homodimeric complex] evidence: IDA

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.