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2024-03-28 16:58:59, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_017716               1182 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens membrane-spanning 4-domains, subfamily A, member 12
            (MS4A12), transcript variant 1, mRNA.
ACCESSION   NM_017716
VERSION     NM_017716.2  GI:256600187
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 1182)
  AUTHORS   Koslowski,M., Tureci,O., Huber,C. and Sahin,U.
  TITLE     Selective activation of tumor growth-promoting Ca2+ channel MS4A12
            in colon cancer by caudal type homeobox transcription factor CDX2
  JOURNAL   Mol. Cancer 8, 77 (2009)
   PUBMED   19781065
  REMARK    GeneRIF: RNA interference of CDX1 and CDX2 and chromatin
            immunoprecipitation in colon cancer cells revealed that MS4A12
            transcript and protein expression is essentially dependent on the
            presence of endogenous CDX2.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1182)
  AUTHORS   Koslowski,M., Sahin,U., Dhaene,K., Huber,C. and Tureci,O.
  TITLE     MS4A12 is a colon-selective store-operated calcium channel
            promoting malignant cell processes
  JOURNAL   Cancer Res. 68 (9), 3458-3466 (2008)
   PUBMED   18451174
  REMARK    GeneRIF: MS4A12 is a colon-selective store-operated calcium channel
            promoting malignant cell processes.
            Erratum:[Cancer Res. 2008 Jun 15;68(12):4958]
REFERENCE   3  (bases 1 to 1182)
  AUTHORS   Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
            Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
            McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
            Dunham,I., Hill,D.E. and Vidal,M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
REFERENCE   4  (bases 1 to 1182)
  AUTHORS   Liang,Y., Buckley,T.R., Tu,L., Langdon,S.D. and Tedder,T.F.
  TITLE     Structural organization of the human MS4A gene cluster on
            Chromosome 11q12
  JOURNAL   Immunogenetics 53 (5), 357-368 (2001)
   PUBMED   11486273
REFERENCE   5  (bases 1 to 1182)
  AUTHORS   Liang,Y. and Tedder,T.F.
  TITLE     Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene
            family: sixteen new MS4A family members expressed in human and
            mouse
  JOURNAL   Genomics 72 (2), 119-127 (2001)
   PUBMED   11401424
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP262076.1 and AK000224.1.
            On Aug 26, 2009 this sequence version replaced gi:8923205.
            
            Summary: The protein encoded by this gene is a cell surface protein
            found primarily in the apical membrane of colonocytes. Silencing of
            this gene in colon cancer cells inhibits the proliferation, cell
            motility, and chemotactic invasion of cells. This gene is part of a
            cluster of similar genes found on chromosome 11. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000224.1, BI760204.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025084, ERS025085 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-414               BP262076.1         3-416
            415-1182            AK000224.1         415-1182
FEATURES             Location/Qualifiers
     source          1..1182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12"
     gene            1..1182
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /note="membrane-spanning 4-domains, subfamily A, member
                     12"
                     /db_xref="GeneID:54860"
                     /db_xref="HGNC:13370"
                     /db_xref="MIM:606550"
     exon            1..51
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="alignment:Splign:1.39.8"
     variation       2
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:192351947"
     misc_feature    31..33
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /note="upstream in-frame stop codon"
     variation       31
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:71488477"
     variation       48
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:115937965"
     exon            52..333
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="alignment:Splign:1.39.8"
     CDS             58..861
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="membrane-spanning 4-domains subfamily A member
                     12 isoform 1"
                     /protein_id="NP_060186.2"
                     /db_xref="GI:256600188"
                     /db_xref="CCDS:CCDS7988.1"
                     /db_xref="GeneID:54860"
                     /db_xref="HGNC:13370"
                     /db_xref="MIM:606550"
                     /translation="
MMSSKPTSHAEVNETIPNPYPPSSFMAPGFQQPLGSINLENQAQGAQRAQPYGITSPGIFASSQPGQGNIQMINPSVGTAVMNFKEEAKALGVIQIMVGLMHIGFGIVLCLISFSFREVLGFASTAVIGGYPFWGGLSFIISGSLSVSASKELSRCLVKGSLGMNIVSSILAFIGVILLLVDMCINGVAGQDYWAVLSGKGISATLMIFSLLEFFVACATAHFANQANTTTNMSVLVIPNMYESNPVTPASSSAPPRCNNYSANAPK
"
     misc_feature    325..729
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /note="CD20-like family; Region: CD20; pfam04103"
                     /db_xref="CDD:202888"
     misc_feature    331..393
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXJ0.2);
                     transmembrane region"
     misc_feature    418..480
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXJ0.2);
                     transmembrane region"
     misc_feature    538..600
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXJ0.2);
                     transmembrane region"
     misc_feature    658..720
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NXJ0.2);
                     transmembrane region"
     variation       86
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:12788393"
     variation       106
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138899173"
     variation       112
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:367773011"
     variation       150..151
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:370132588"
     variation       150
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:78557637"
     variation       198
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147360952"
     variation       199
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:137894801"
     variation       213
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2298552"
     variation       222
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143911504"
     variation       227
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148561730"
     variation       228
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201559362"
     variation       251
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374598941"
     variation       252
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375239051"
     variation       254
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369153107"
     variation       268
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2298553"
     variation       280
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146116909"
     variation       328
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78337068"
     exon            334..471
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="alignment:Splign:1.39.8"
     variation       336
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:140200568"
     variation       346
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143892341"
     variation       371
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201589223"
     variation       386
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151260783"
     variation       395
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373214880"
     variation       420
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201122448"
     variation       446
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139228899"
     variation       450
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150012278"
     variation       466
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376941266"
     exon            472..528
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="alignment:Splign:1.39.8"
     variation       488
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376865209"
     variation       496
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370194824"
     variation       520
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200547614"
     variation       521
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111546873"
     exon            529..645
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="alignment:Splign:1.39.8"
     variation       568
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:149091457"
     variation       598
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374195006"
     variation       614
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116528387"
     exon            646..756
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="alignment:Splign:1.39.8"
     variation       655
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:375256547"
     variation       671
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147819793"
     variation       672
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141480500"
     variation       703
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147008825"
     variation       750
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:17852697"
     exon            757..1167
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /inference="alignment:Splign:1.39.8"
     variation       807
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:59813271"
     variation       856
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:376989014"
     variation       904
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2298559"
     variation       905
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201703923"
     variation       906
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373758551"
     variation       1064
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188517726"
     variation       1072
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76519292"
     polyA_signal    1144..1149
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
     polyA_site      1167
                     /gene="MS4A12"
                     /gene_synonym="Ms4a10"
ORIGIN      
acacaggttggagcagagaaagaggaaacatagaggtgccaaaggaacaaagacataatgatgtcatccaagccaacaagccatgctgaagtaaatgaaaccatacccaacccttacccaccaagcagctttatggctcctggatttcaacagcctctgggttcaatcaacttagaaaaccaagctcagggtgctcagcgtgctcagccctacggcatcacatctccgggaatctttgctagcagtcaaccgggtcaaggaaatatacaaatgataaatccaagtgtgggaacagcagtaatgaactttaaagaagaagcaaaggcactaggggtgatccagatcatggttggattgatgcacattggttttggaattgttttgtgtttaatatccttctcttttagagaagtattaggttttgcctctactgctgttattggtggatacccattctggggtggcctttcttttattatctctggctctctctctgtgtcagcatccaaggagctttcccgttgtctggtgaaaggcagcctgggaatgaacattgttagttctatcttggccttcattggagtgattctgctgctggtggatatgtgcatcaatggggtagctggccaagactactgggccgtgctttctggaaaaggcatttcagccacgctgatgatcttctccctcttggagttcttcgtagcttgtgccacagcccattttgccaaccaagcaaacaccacaaccaatatgtctgtcctggttattccaaatatgtatgaaagcaaccctgtgacaccagcgtcttcttcagctcctcccagatgcaacaactactcagctaatgcccctaaatagtaaaagaaaaaggggtatcagtctaatctcatggagaaaaactacttgcaaaaacttcttaagaagatgtcttttattgtctacaatgatttctagtctttaaaaactgtgtttgagatttgtttttaggttggtcgctaatgatggctgtatctcccttcactgtctcttcctacattaccactactacatgctggcaaaggtgaaggatcagaggactgaaaaatgattctgcaactctcttaaagttagaaatgtttctgttcatattactttttccttaataaaatgtcattagaaacaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:54860 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

by @meso_cacase at DBCLS
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