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2025-05-09 17:23:40, 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 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
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