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2020-10-24 07:32:35, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001243738            3165 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens ral guanine nucleotide dissociation stimulator-like 2
            (RGL2), transcript variant 2, mRNA.
ACCESSION   NM_001243738 NR_028387
VERSION     NM_001243738.1  GI:344189932
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 3165)
  AUTHORS   Hershkovitz,D., Gross,Y., Nahum,S., Yehezkel,S., Sarig,O., Uitto,J.
            and Sprecher,E.
  TITLE     Functional characterization of SAMD9, a protein deficient in
            normophosphatemic familial tumoral calcinosis
  JOURNAL   J. Invest. Dermatol. 131 (3), 662-669 (2011)
   PUBMED   21160498
  REMARK    GeneRIF: SAMD9, an IFN-gamma-responsive protein, interacts with
            RGL2 to diminish the expression of EGR1, a protein of direct
            relevance to the pathogenesis of ectopic calcification and
            inflammation.
REFERENCE   2  (bases 1 to 3165)
  AUTHORS   Vigil,D., Martin,T.D., Williams,F., Yeh,J.J., Campbell,S.L. and
            Der,C.J.
  TITLE     Aberrant overexpression of the Rgl2 Ral small GTPase-specific
            guanine nucleotide exchange factor promotes pancreatic cancer
            growth through Ral-dependent and Ral-independent mechanisms
  JOURNAL   J. Biol. Chem. 285 (45), 34729-34740 (2010)
   PUBMED   20801877
  REMARK    GeneRIF: Rgl2 and RalB both localized to the leading edge, and this
            localization of RalB was dependent on endogenous Rgl2 expression.
REFERENCE   3  (bases 1 to 3165)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet. 5 (10), E1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 3165)
  AUTHORS   Ferro,E., Magrini,D., Guazzi,P., Fischer,T.H., Pistolesi,S.,
            Pogni,R., White,G.C. and Trabalzini,L.
  TITLE     G-protein binding features and regulation of the RalGDS family
            member, RGL2
  JOURNAL   Biochem. J. 415 (1), 145-154 (2008)
   PUBMED   18540861
  REMARK    GeneRIF: RGL2 is phosphorylated by PKA and phosphorylation reduces
            the ability of RGL2 to bind H-Ras. results of the present study
            indicate that Ras may distinguish between the different RalGDS
            family members by their phosphorylation by PKA.
REFERENCE   5  (bases 1 to 3165)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   6  (bases 1 to 3165)
  AUTHORS   Ando,A., Kikuti,Y.Y., Abe,K., Shigenari,A., Kawata,H., Ikemura,T.,
            Kimura,M. and Inoko,H.
  TITLE     cDNA cloning, northern hybridization, and mapping analysis of a
            putative GDS-related protein gene at the centromeric ends of the
            human and mouse MHC regions
  JOURNAL   Immunogenetics 49 (4), 354-356 (1999)
   PUBMED   10079301
REFERENCE   7  (bases 1 to 3165)
  AUTHORS   Herberg,J.A., Beck,S. and Trowsdale,J.
  TITLE     TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form
            a dense cluster at the centromeric end of the MHC
  JOURNAL   J. Mol. Biol. 277 (4), 839-857 (1998)
   PUBMED   9545376
REFERENCE   8  (bases 1 to 3165)
  AUTHORS   Herberg,J.A., Sgouros,J., Jones,T., Copeman,J., Humphray,S.J.,
            Sheer,D., Cresswell,P., Beck,S. and Trowsdale,J.
  TITLE     Genomic analysis of the Tapasin gene, located close to the TAP loci
            in the MHC
  JOURNAL   Eur. J. Immunol. 28 (2), 459-467 (1998)
   PUBMED   9521053
REFERENCE   9  (bases 1 to 3165)
  AUTHORS   Peterson,S.N., Trabalzini,L., Brtva,T.R., Fischer,T.,
            Altschuler,D.L., Martelli,P., Lapetina,E.G., Der,C.J. and
            White,G.C. II.
  TITLE     Identification of a novel RalGDS-related protein as a candidate
            effector for Ras and Rap1
  JOURNAL   J. Biol. Chem. 271 (47), 29903-29908 (1996)
   PUBMED   8939933
REFERENCE   10 (bases 1 to 3165)
  AUTHORS   Isomura,M., Okui,K., Fujiwara,T., Shin,S. and Nakamura,Y.
  TITLE     Isolation and mapping of RAB2L, a human cDNA that encodes a protein
            homologous to RalGDS
  JOURNAL   Cytogenet. Cell Genet. 74 (4), 263-265 (1996)
   PUBMED   8976381
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA158284.1, BX648015.1 and AL050259.1.
            On Aug 24, 2011 this sequence version replaced gi:257096072.
            
            Transcript Variant: This variant (2) lacks an internal exon and
            uses a downstream, in-frame start codon, compared to variant 1. The
            encoded isoform (2) has a shorter N-terminus, compared to 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 :: BX648015.1 [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
            1-458               DA158284.1         1-458
            459-714             BX648015.1         1-256
            715-715             AL050259.1         485-485
            716-3165            BX648015.1         258-2707
FEATURES             Location/Qualifiers
     source          1..3165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.3"
     gene            1..3165
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="ral guanine nucleotide dissociation stimulator-like
                     2"
                     /db_xref="GeneID:5863"
                     /db_xref="HGNC:9769"
                     /db_xref="MIM:602306"
     exon            1..519
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    280..282
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="upstream in-frame stop codon"
     exon            520..603
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            604..782
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     CDS             610..2697
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="isoform 2 is encoded by transcript variant 2;
                     GDS-related protein; ralGDS-like factor; ras-associated
                     protein RAB2L; ralGDS-like 2"
                     /codon_start=1
                     /product="ral guanine nucleotide dissociation
                     stimulator-like 2 isoform 2"
                     /protein_id="NP_001230667.1"
                     /db_xref="GI:344189933"
                     /db_xref="GeneID:5863"
                     /db_xref="HGNC:9769"
                     /db_xref="MIM:602306"
                     /translation="
MPPPRSSRRLRAGTLEALVRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALESHPTDELERTTEVAISVLSTWLASHPEDFGSEAKGQLDRLESFLLQTGYAAGKGVGGGSADLIRNLRSRVDPQAPDLPKPLALPGDPPADPTDVLVFLADHLAEQLTLLDAELFLNLIPSQCLGGLWGHRDRPGHSHLCPSVRATVTQFNKVAGAVVSSVLGATSTGEGPGEVTIRPLRPPQRARLLEKWIRVAEECRLLRNFSSVYAVVSALQSSPIHRLRAAWGEATRDSLRVFSSLCQIFSEEDNYSQSRELLVQEVKLQSPLEPHSKKAPRSGSRGGGVVPYLGTFLKDLVMLDAASKDELENGYINFDKRRKEFAVLSELRRLQNECRGYNLQPDHDIQRWLQGLRPLTEAQSHRVSCEVEPPGSSDPPAPRVLRPTLVISQWTEVLGSVGVPTPLVSCDRPSTGGDEAPTTPAPLLTRLAQHMKWPSVSSLDSALESSPSLHSPADPSHLSPPASSPRPSRGHRRSASCGSPLSGGAEEASGGTGYGGEGSGPGASDCRIIRVQMELGEDGSVYKSILVTSQDKAPSVISRVLKKNNRDSAVASEYELVQLLPGERELTIPASANVFYAMDGASHDFLLRQRRRSSTATPGVTSGPSASGTPPSEGGGGSFPRIKATGRKIARALF
"
     misc_feature    649..930
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal domain (RasGef_N), also called REM
                     domain (Ras exchanger motif). This domain is common in
                     nucleotide exchange factors for Ras-like small GTPases and
                     is typically found immediately...; Region: REM; cd06224"
                     /db_xref="CDD:100121"
     misc_feature    1078..1890
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases. Small GTP-binding proteins of the Ras
                     superfamily function as molecular switches in fundamental
                     events such as signal transduction, cytoskeleton dynamics
                     and intracellular trafficking; Region: RasGEF; cd00155"
                     /db_xref="CDD:29070"
     misc_feature    order(1177..1185,1222..1227,1231..1239,1243..1248,
                     1255..1260,1267..1269,1408..1410,1417..1422,1426..1434,
                     1438..1449,1453..1458,1516..1518,1525..1527,1540..1548,
                     1555..1557,1654..1662,1669..1677,1681..1689,1693..1704,
                     1747..1749,1759..1761,1864..1866,1873..1878)
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="Ras interaction site [polypeptide binding]; other
                     site"
                     /db_xref="CDD:29070"
     misc_feature    2305..2562
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="Ubiquitin domain of  RalGDS-like factor (RLF) and
                     related proteins; Region: RalGDS_RA; cd00153"
                     /db_xref="CDD:176351"
     misc_feature    order(2314..2316,2320..2322,2356..2361,2365..2370,
                     2380..2385,2407..2409,2416..2421,2425..2427,2431..2433)
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /note="Ras interaction site [polypeptide binding]; other
                     site"
                     /db_xref="CDD:176351"
     exon            783..833
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            834..1131
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1132..1383
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1384..1487
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1488..1572
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1573..1641
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1642..1716
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1717..1749
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1750..1871
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1872..1967
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            1968..2079
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            2080..2370
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     exon            2371..2485
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     STS             2376..2679
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /standard_name="MARC3086-3087"
                     /db_xref="UniSTS:224146"
     exon            2486..3145
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /inference="alignment:Splign:1.39.8"
     STS             2730..2961
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /standard_name="RH67825"
                     /db_xref="UniSTS:19586"
     STS             2865..3023
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /standard_name="RH15812"
                     /db_xref="UniSTS:25410"
     variation       2994
                     /gene="RGL2"
                     /gene_synonym="HKE1.5; KE1.5; RAB2L"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1801823"
ORIGIN      
gggatttcggtcagctacattcgtgggttgtggtagggagggtaatcccgtggggatggagtgaccggctctctctccgcctgaaacgcttcccgcgggagttttagccgtgttattgttggggaagggaatgtcaaattctgctcctgccttcccccaggggctggagactggaatctttattccagttcattgcgggtcgacgtggtctccagaatccccgagtgtagaggcggaggacagtggagctggggactcgggcgcctgggtcctggtccctgagcgtccagcgctcccctagtccgcggccctggctcctgtcctcacttccttccccttttggctcctgctctcggagcgggcggacgcgggggggagcggaaagggcgggagggcccaggagcccggcgggggggttcaagggggtacggaaaagccggggaggggactcggtccggggccggagaccgacggcaacagcggctcaggacccacgctgcccccacccctcccgagcaggcccctgtgtccgtctgggatgaggaggaggatggtgccgtgtttaccgtcacaagccgccaatatcgacctcttgatcccttggtccctatgcctcccccacgttcctcccgacggctccgagctggcactctggaggccctggtcagacacctactggatacccggacatcagggactgatgtgagcttcatgtcagccttcctggctacccaccgggccttcacctccacgcctgccttgctagggcttatggctgacaggctggaagcccttgaatctcatcctaccgacgaactagagaggacaacagaggtagccatctctgtactgtcaacctggctggcctctcaccctgaggattttggctctgaggccaagggtcagcttgaccggcttgagagcttcttacttcagacagggtatgcagcagggaagggtgttggggggggcagcgctgacctcatccgcaatctccggtcccgggtggacccccaggcccccgaccttcctaagcccctggccctccccggcgatccccctgctgaccccacggatgtcctggtgttcctcgctgaccacttggccgaacagctgaccctgctagatgcggaactttttctcaatttgatcccctctcagtgcctgggaggcctgtggggtcacagagaccggccaggacattctcacctctgcccatctgtccgagctactgtcacacagtttaacaaggtggcaggggcagtggttagttctgtcctgggggctacttccactggagagggacctggggaggtgaccatacggccactccgtcccccacagagggcccggctcctggagaagtggatccgcgtggcagaggagtgccggctgctccgaaacttctcttcagtttatgccgtggtgtcagccctgcagtccagccccatccacaggcttcgggcagcctggggggaagcaaccagggacagcctcagagtcttttccagcctctgccagattttctccgaggaggataattattcccagagtcgggagctgctcgtgcaggaggtgaagctgcagtctcctctggagccacactccaagaaggccccgaggtctggctcccggggtgggggtgtggtcccataccttggcaccttcctgaaggaccttgtgatgctggatgcagcctccaaggatgagttggagaatggatacatcaattttgacaagcggaggaaggagtttgcagtcctttctgagttgcgacggctccagaatgaatgtcgtggctataacctccaacctgaccatgatatccagaggtggctacaggggctccggccactgacagaggctcagagccatcgtgtatcctgtgaggtggagccacctggttccagtgaccctcctgccccacgggtgcttcggccaacattggtcatctcgcagtggacagaggttttgggctctgttggggtccctaccccgcttgtgtcctgtgaccggcccagtactgggggagatgaggcgcctacaactcctgctcctctgctgactcggctggcccagcacatgaagtggccatctgtctcgtcactagactctgccttggaaagcagtccatccctgcacagtccagctgaccccagccacctctccccaccagcctcctcccctaggccttctcgaggtcaccgccgctcagcctcctgtggctccccgctgagtgggggtgcagaagaggcctccggggggactggatatgggggagagggatctgggccaggggcctctgattgccgtatcatccgagtccagatggagttgggggaagatggcagtgtctataagagcattttggtgacaagccaggacaaggctccaagtgtcatcagtcgtgtccttaagaaaaacaatcgtgactctgcagtggcttcagagtatgagctggtacagctgctaccaggggagcgagagctgactatcccagcctcggctaatgtattctacgccatggatggagcttcacacgatttcctcctgcggcagcggcgaaggtcctctactgctacacctggcgtcaccagtggcccgtctgcctcaggaactcctccgagtgagggaggagggggctcctttcccaggatcaaggccacagggaggaagattgcacgggcactgttctgaggaggaagccccgttggcttacagaagtcatggtgttcataccagatgtgggtagccatcctgaatggtggcaattatatcacattgagacagaaattcagaaagggagccagccaccctggggcagtgaagtgccactggtttaccagacagctgagaaatccagccctgtgggaactggtgtcttataaccaagttggatacctgtgtatagcttcccaccttccatgagtgcagcacacaggtagtgctggaaaaacgcatcagtttctgattcttggccatatcctaacatgcaagggccaagcaaaggcttcaaggctctgagccccagggcagaggggaatggcaaaatgtaggtcctcgcaggagctcttcttcccactctgggggtttctatcactgtgacaacactaagataataaaccaaaacactacctgaattctaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5863 -> Molecular function: GO:0005088 [Ras guanyl-nucleotide exchange factor activity] evidence: NAS
            GeneID:5863 -> Biological process: GO:0007265 [Ras protein signal transduction] evidence: NAS
            GeneID:5863 -> Biological process: GO:0051056 [regulation of small GTPase mediated signal transduction] evidence: IEA
            GeneID:5863 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
            GeneID:5863 -> Cellular component: GO:0005622 [intracellular] evidence: IEA

by @meso_cacase at DBCLS
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