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2020-10-26 19:44:18, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_007284               1659 bp    mRNA    linear   PRI 05-MAY-2013
DEFINITION  Homo sapiens twinfilin actin-binding protein 2 (TWF2), mRNA.
ACCESSION   NM_007284
VERSION     NM_007284.3  GI:40068460
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 1659)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat. Genet. 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1659)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 1659)
  AUTHORS   Han,S., Lan,Q., Park,A.K., Lee,K.M., Park,S.K., Ahn,H.S.,
            Shin,H.Y., Kang,H.J., Koo,H.H., Seo,J.J., Choi,J.E., Ahn,Y.O.,
            Chanock,S.J., Kim,H., Rothman,N. and Kang,D.
  TITLE     Polymorphisms in innate immunity genes and risk of childhood
            leukemia
  JOURNAL   Hum. Immunol. 71 (7), 727-730 (2010)
   PUBMED   20438785
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   4  (bases 1 to 1659)
  AUTHORS   Rajaraman,P., Brenner,A.V., Neta,G., Pfeiffer,R., Wang,S.S.,
            Yeager,M., Thomas,G., Fine,H.A., Linet,M.S., Rothman,N.,
            Chanock,S.J. and Inskip,P.D.
  TITLE     Risk of meningioma and common variation in genes related to innate
            immunity
  JOURNAL   Cancer Epidemiol. Biomarkers Prev. 19 (5), 1356-1361 (2010)
   PUBMED   20406964
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1659)
  AUTHORS   Peng,A.W., Belyantseva,I.A., Hsu,P.D., Friedman,T.B. and Heller,S.
  TITLE     Twinfilin 2 regulates actin filament lengths in cochlear
            stereocilia
  JOURNAL   J. Neurosci. 29 (48), 15083-15088 (2009)
   PUBMED   19955359
REFERENCE   6  (bases 1 to 1659)
  AUTHORS   Nevalainen,E.M., Skwarek-Maruszewska,A., Braun,A., Moser,M. and
            Lappalainen,P.
  TITLE     Two biochemically distinct and tissue-specific twinfilin isoforms
            are generated from the mouse Twf2 gene by alternative promoter
            usage
  JOURNAL   Biochem. J. 417 (2), 593-600 (2009)
   PUBMED   18837697
REFERENCE   7  (bases 1 to 1659)
  AUTHORS   Yamada,S., Uchimura,E., Ueda,T., Nomura,T., Fujita,S.,
            Matsumoto,K., Funeriu,D.P., Miyake,M. and Miyake,J.
  TITLE     Identification of twinfilin-2 as a factor involved in neurite
            outgrowth by RNAi-based screen
  JOURNAL   Biochem. Biophys. Res. Commun. 363 (4), 926-930 (2007)
   PUBMED   17910947
  REMARK    GeneRIF: twinfilin-2 is a protein that is involved in neurite
            outgrowth
REFERENCE   8  (bases 1 to 1659)
  AUTHORS   Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
            Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat. Biotechnol. 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   9  (bases 1 to 1659)
  AUTHORS   Vartiainen,M.K., Sarkkinen,E.M., Matilainen,T., Salminen,M. and
            Lappalainen,P.
  TITLE     Mammals have two twinfilin isoforms whose subcellular localizations
            and tissue distributions are differentially regulated
  JOURNAL   J. Biol. Chem. 278 (36), 34347-34355 (2003)
   PUBMED   12807912
REFERENCE   10 (bases 1 to 1659)
  AUTHORS   Rohwer,A., Kittstein,W., Marks,F. and Gschwendt,M.
  TITLE     Cloning, expression and characterization of an A6-related protein
  JOURNAL   Eur. J. Biochem. 263 (2), 518-525 (1999)
   PUBMED   10406962
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI551353.1, AL136773.1 and
            BC003161.1.
            On Dec 18, 2003 this sequence version replaced gi:31543446.
            
            Summary: The protein encoded by this gene was identified by its
            interaction with the catalytic domain of protein kinase C-zeta. The
            encoded protein contains an actin-binding site and an ATP-binding
            site. It is most closely related to twinfilin (PTK9), a conserved
            actin monomer-binding protein. [provided by RefSeq, Jul 2008].
            
            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 :: AL136773.1, BC000327.2 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-33                BI551353.1         99-131
            34-83               AL136773.1         1-50
            84-1623             BC003161.1         1-1540
            1624-1659           AL136773.1         1591-1626
FEATURES             Location/Qualifiers
     source          1..1659
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     gene            1..1659
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /note="twinfilin actin-binding protein 2"
                     /db_xref="GeneID:11344"
                     /db_xref="HGNC:9621"
                     /db_xref="HPRD:08464"
                     /db_xref="MIM:607433"
     exon            1..176
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     CDS             152..1201
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /note="protein tyrosine kinase 9-like (A6-related
                     protein); PTK9L protein tyrosine kinase 9-like (A6-related
                     protein); twinfilin-1-like protein; twinfilin,
                     actin-binding protein, homolog 2"
                     /codon_start=1
                     /product="twinfilin-2"
                     /protein_id="NP_009215.1"
                     /db_xref="GI:6005846"
                     /db_xref="CCDS:CCDS2849.1"
                     /db_xref="GeneID:11344"
                     /db_xref="HGNC:9621"
                     /db_xref="HPRD:08464"
                     /db_xref="MIM:607433"
                     /translation="
MAHQTGIHATEELKEFFAKARAGSVRLIKVVIEDEQLVLGASQEPVGRWDQDYDRAVLPLLDAQQPCYLLYRLDSQNAQGFEWLFLAWSPDNSPVRLKMLYAATRATVKKEFGGGHIKDELFGTVKDDLSFAGYQKHLSSCAAPAPLTSAERELQQIRINEVKTEISVESKHQTLQGLAFPLQPEAQRALQQLKQKMVNYIQMKLDLERETIELVHTEPTDVAQLPSRVPRDAARYHFFLYKHTHEGDPLESVVFIYSMPGYKCSIKERMLYSSCKSRLLDSVEQDFHLEIAKKIEIGDGAELTAEFLYDEVHPKQHAFKQAFAKPKGPGGKRGHKRLIRGPGENGDDS
"
     misc_feature    155..157
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N-acetylalanine; propagated from
                     UniProtKB/Swiss-Prot (Q6IBS0.2); acetylation site"
     misc_feature    161..577
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /note="N-terminal ADF domain of twinfilin and related
                     proteins; Region: ADF_Twf-N_like; cd11285"
                     /db_xref="CDD:200441"
     misc_feature    164..169
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /note="putative G-actin interface [polypeptide binding];
                     other site"
                     /db_xref="CDD:200441"
     misc_feature    191..193
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (Q6IBS0.2); acetylation site"
     misc_feature    677..1084
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /note="C-terminal ADF domain of twinfilin and related
                     proteins; Region: ADF_Twf-C_like; cd11284"
                     /db_xref="CDD:200440"
     misc_feature    order(677..691,779..781,920..922,926..928,935..937,
                     947..952,956..964,968..973,977..979,1031..1033,1037..1039,
                     1043..1045)
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /note="G-actin binding interface [polypeptide binding];
                     other site"
                     /db_xref="CDD:200440"
     misc_feature    order(950..952,1046..1048,1055..1057)
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /note="putative F-actin interface [polypeptide binding];
                     other site"
                     /db_xref="CDD:200440"
     misc_feature    1076..1078
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine; propagated from
                     UniProtKB/Swiss-Prot (Q6IBS0.2); phosphorylation site"
     misc_feature    1076..1078
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /citation=[8]
     misc_feature    1196..1198
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q6IBS0.2); phosphorylation site"
     exon            177..254
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     exon            255..433
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     exon            434..529
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     variation       464
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1062714"
     variation       525
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:641606"
     exon            530..634
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     variation       562
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:164637"
     exon            635..760
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     variation       739
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:352143"
     exon            761..911
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     STS             869..1062
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /standard_name="MARC_7313-7314:996687766:1"
                     /db_xref="UniSTS:269767"
     exon            912..1033
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     exon            1034..1625
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /inference="alignment:Splign:1.39.8"
     STS             1368..1544
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /standard_name="RH11729"
                     /db_xref="UniSTS:10344"
     polyA_signal    1603..1608
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
     polyA_site      1623
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
                     /experiment="experimental evidence, no additional details
                     recorded"
     polyA_site      1625
                     /gene="TWF2"
                     /gene_synonym="A6r; A6RP; MSTP011; PTK9L"
ORIGIN      
gctgggggcgggtcctgcggcaccgcccgggaagctgcgcgagggtcgacagcctccgccacatcctccacctctcttggtccagcgagcgttgccgggccagggtcaagcggagggctccgacggcgcggacggagcgaagcgccgagccatggcgcaccaaacgggcatccacgccacggaagagctgaaggaattctttgccaaggcacgggctggctctgtgcggctcatcaaggttgtgattgaggacgagcagctcgtgctgggtgcctcgcaggagccagtaggccgctgggatcaggactatgacagggccgtgctgccactgctggacgcccagcagccctgctacctgctctaccgcctcgactcacagaatgctcagggcttcgaatggctcttcctcgcctggtcgcctgataactcccccgtgcggctgaagatgctgtacgcggccacgcgggccacagtgaaaaaggagtttggaggtggccacatcaaggatgagctcttcgggactgtgaaggatgacctctcttttgctgggtaccagaaacacctgtcgtcctgtgcggcacctgccccgctgacctcggctgagagagagctccagcagatccgcattaacgaggtgaagacagagatcagtgtggaaagcaagcaccagaccctgcagggcctcgccttccccctgcagcctgaggcccagcgggcactccagcagctcaagcagaaaatggtcaactacatccagatgaagctggacctagagcgggaaaccattgagctggtgcacacagagcccacggatgtggcccagctgccctcccgggtgccccgagatgctgcccgctaccacttcttcctctacaagcacacccatgagggcgacccccttgagtctgtagtgttcatctactccatgccggggtacaagtgcagcatcaaggagcgaatgctctactccagctgcaagagccgcctcctcgactccgtggagcaggacttccatctggagatcgccaagaaaattgagattggcgatggggcagagctgacggcagagttcctctacgacgaggtgcaccccaagcaacacgccttcaagcaggccttcgccaagcccaagggcccagggggcaagcggggccataagcgcctcatccgcggcccgggtgaaaatggggatgacagctaggaggctggagcagggccggccacgtgtggactgtggggctgcccaccttccgctccctgccaccatcctccttcctgggctccaggaaagtgtttctgggaggtcaggagggctggcagctgaacgcacttgcagcgtccgagggccaccgggctggcattttgtgacccttccctgttgctgtccctgcatctcgtctgtgtgcccagggtgtccggggaccctgcctggctggcttaagggggctgggtcaggggcctggcatgaacctggcctcccggggagctgagactagggtcccagcacagcccagaaacctttggccacaagaagtggggtcagtcagggctggggcaggggtcactgcagtttgggatggttgaatgctgtattttctaaagaataaaatatttttaaatcaagaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:11344 -> Molecular function: GO:0003785 [actin monomer binding] evidence: ISS
            GeneID:11344 -> Molecular function: GO:0005080 [protein kinase C binding] evidence: IPI
            GeneID:11344 -> Molecular function: GO:0005524 [ATP binding] evidence: IDA
            GeneID:11344 -> Molecular function: GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] evidence: ISS
            GeneID:11344 -> Biological process: GO:0010592 [positive regulation of lamellipodium assembly] evidence: IMP
            GeneID:11344 -> Biological process: GO:0010976 [positive regulation of neuron projection development] evidence: IMP
            GeneID:11344 -> Biological process: GO:0030030 [cell projection organization] evidence: IEA
            GeneID:11344 -> Biological process: GO:0030837 [negative regulation of actin filament polymerization] evidence: ISS
            GeneID:11344 -> Biological process: GO:0032532 [regulation of microvillus length] evidence: IC
            GeneID:11344 -> Biological process: GO:0032956 [regulation of actin cytoskeleton organization] evidence: IMP
            GeneID:11344 -> Biological process: GO:0042989 [sequestering of actin monomers] evidence: ISS
            GeneID:11344 -> Biological process: GO:0045773 [positive regulation of axon extension] evidence: IMP
            GeneID:11344 -> Biological process: GO:0051016 [barbed-end actin filament capping] evidence: ISS
            GeneID:11344 -> Biological process: GO:0071300 [cellular response to retinoic acid] evidence: IMP
            GeneID:11344 -> Biological process: GO:0071363 [cellular response to growth factor stimulus] evidence: IMP
            GeneID:11344 -> Cellular component: GO:0005737 [cytoplasm] evidence: NAS
            GeneID:11344 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA
            GeneID:11344 -> Cellular component: GO:0030016 [myofibril] evidence: ISS
            GeneID:11344 -> Cellular component: GO:0030027 [lamellipodium] evidence: ISS
            GeneID:11344 -> Cellular component: GO:0030175 [filopodium] evidence: ISS
            GeneID:11344 -> Cellular component: GO:0030426 [growth cone] evidence: IDA
            GeneID:11344 -> Cellular component: GO:0032420 [stereocilium] evidence: ISS
            GeneID:11344 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: ISS

by @meso_cacase at DBCLS
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