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2025-05-09 19:20:44, 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 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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