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2025-05-12 01:52:04, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001167959 1366 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens transmembrane protein 178A (TMEM178A), transcript
variant 2, mRNA.
ACCESSION NM_001167959
VERSION NM_001167959.1 GI:269914168
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 1366)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 2 (bases 1 to 1366)
AUTHORS Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
TITLE The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins:
a bioinformatics assessment
JOURNAL Genome Res. 13 (10), 2265-2270 (2003)
PUBMED 12975309
REMARK Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BI757636.1, AC007246.3 and BC029530.1.
Transcript Variant: This variant (2) contains a distinct 5' UTR and
lacks an in-frame portion of the 5' coding region, compared to
variant 1. The resulting isoform (2) has a shorter N-terminus,
compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: BI757636.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-53 BI757636.1 1-53
54-54 AC007246.3 94699-94699 c
55-213 BI757636.1 54-212
214-214 BC029530.1 496-496
215-457 BI757636.1 214-456
458-1366 BC029530.1 740-1648
FEATURES Location/Qualifiers
source 1..1366
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p22.1"
gene 1..1366
/gene="TMEM178A"
/gene_synonym="TMEM178"
/note="transmembrane protein 178A"
/db_xref="GeneID:130733"
/db_xref="HGNC:28517"
exon 1..143
/gene="TMEM178A"
/gene_synonym="TMEM178"
/inference="alignment:Splign:1.39.8"
misc_feature 74..76
/gene="TMEM178A"
/gene_synonym="TMEM178"
/note="upstream in-frame stop codon"
variation 97
/gene="TMEM178A"
/gene_synonym="TMEM178"
/replace="a"
/replace="g"
/db_xref="dbSNP:13409487"
exon 144..257
/gene="TMEM178A"
/gene_synonym="TMEM178"
/inference="alignment:Splign:1.39.8"
variation 151
/gene="TMEM178A"
/gene_synonym="TMEM178"
/replace="a"
/replace="g"
/db_xref="dbSNP:148502563"
variation 153
/gene="TMEM178A"
/gene_synonym="TMEM178"
/replace="a"
/replace="g"
/db_xref="dbSNP:371811326"
variation 163
/gene="TMEM178A"
/gene_synonym="TMEM178"
/replace="a"
/replace="g"
/db_xref="dbSNP:199576215"
variation 178
/gene="TMEM178A"
/gene_synonym="TMEM178"
/replace="c"
/replace="t"
/db_xref="dbSNP:375151652"
variation 201
/gene="TMEM178A"
/gene_synonym="TMEM178"
/replace="a"
/replace="g"
/db_xref="dbSNP:149903489"
variation 253
/gene="TMEM178A"
/gene_synonym="TMEM178"
/replace="g"
/replace="t"
/db_xref="dbSNP:144202857"
exon 258..395
/gene="TMEM178A"
/gene_synonym="TMEM178"
/inference="alignment:Splign:1.39.8"
CDS 290..637
/gene="TMEM178A"
/gene_synonym="TMEM178"
/note="isoform 2 is encoded by transcript variant 2;
transmembrane protein 178"
/codon_start=1
/product="transmembrane protein 178A isoform 2"
/protein_id="NP_001161431.1"
/db_xref="GI:269914169"
/db_xref="GeneID:130733"
/db_xref="HGNC:28517"
/translation="
MAVAVLLCGCIVATVSFFWEESLTQHVAGLLFLMTGIFCTISLCTYAASISYDLNRLPKLIYSLPADVEHGYSWSIFCAWCSLGFIVAAGGLCIAYPFISRTKIAQLKSGRDSTV
" misc_feature <290..565 /gene="TMEM178A" /gene_synonym="TMEM178" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl15797" /db_xref="CDD:210197" variation 295 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:141844962" variation 301 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:200218947" variation 313 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:141065930" variation 321 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:138807729" variation 367 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:377174385" exon 396..1349 /gene="TMEM178A" /gene_synonym="TMEM178" /inference="alignment:Splign:1.39.8" variation 398 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="c" /db_xref="dbSNP:201281373" variation 412 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="t" /db_xref="dbSNP:200061855" variation 418 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:370900847" variation 429 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:199591656" variation 431 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:141928270" variation 457 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:372186330" variation 479 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:376560766" variation 523 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:199548184" variation 531 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:147809327" variation 546 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:141827016" variation 551 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:185395702" variation 580 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:190057123" variation 591 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:146286536" variation 610 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:142620766" variation 665 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:369677272" variation 669 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:142536971" variation 681 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:374437026" variation 689 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:201625949" variation 697 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="g" /db_xref="dbSNP:182711713" STS 850..1083 /gene="TMEM178A" /gene_synonym="TMEM178" /standard_name="G65633" /db_xref="UniSTS:225408" variation 926 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:146772305" variation 929 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:147946378" variation 1009 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:186728692" variation 1039 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:191570624" variation 1116 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:183783693" variation 1126 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="c" /replace="t" /db_xref="dbSNP:369724230" variation 1168..1169 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="" /replace="t" /db_xref="dbSNP:34580359" variation 1168 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="" /replace="t" /db_xref="dbSNP:200054347" variation 1180 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="t" /db_xref="dbSNP:75590688" variation 1182 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:76892392" STS 1183..1332 /gene="TMEM178A" /gene_synonym="TMEM178" /standard_name="SGC31151" /db_xref="UniSTS:21366" variation 1234 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:141875764" variation 1280 /gene="TMEM178A" /gene_synonym="TMEM178" /replace="a" /replace="g" /db_xref="dbSNP:188720081" ORIGIN
gggaaagtgtgagaggaagagttggagaaaagtcgggggaaagtagggacagggttaaggggagagaggaggatgagggcggcgaggagagattaaaaggggaaggggggtcgctggagaggagggcggactgtggatcggaggtattgcgcagcgatgcacggccatcaagtaccacttttctcagcccatccgcttgcgaaacattccttttaatttaaccaagaccatacagcaagatgagtggcacctgcttcatttaagaagaatcactgctggcttcctcggcatggccgtagccgtccttctctgcggctgcattgtggccacagtcagtttcttctgggaggagagcttgacccagcacgtggctggactcctgttcctcatgacagggatattttgcaccatttccctctgtacttatgccgccagtatctcgtatgatttgaaccggctcccaaagctaatttatagcctgcctgctgatgtggaacatggttacagctggtccatcttttgcgcctggtgcagtttaggctttattgtggcagctggaggtctctgcatcgcttatccgtttattagccggaccaagattgcacagctaaagtctggcagagactccacggtatgactgtcctcactgggcctgtccacagtgcgagcgactcctgaggggaacagcgcggagttcaggagtccaagcacaaagcggtcttttacattccaacctgttgcctgccagccctttctggattactgatagaaaatcatgcaaaacctcccaacctttctaaggacaagactactgtggattcaagtgctttaatgactatttatgcgttgactgtgagaatagggagcagtgccatgggacatttctaggtgtagagaaagaagaaactgcaatggaaaaatttgtatgatttccatttatttcagaaagtttgtatgtaacaattacccgagagtcatttctacttgcaaaaggattcgtaacaaagcgagtataattttcttgtcattgtatcatgcttgttaaattttaatgcagcatcttcagaacttgtcctgatggtgtcttattgtgtcagcaccaaatatttgtgcattatttgtggacgttccttgtcacaggaagattcttcttctgttgccttattgtttttttttttttaagtctcttctctgtctttgtactggaatcgaaatcataagataaacagatcaaacgtgcttaagagctaactcgtgacactatgcagtattgtttgaagacctgttgttcaacctctgtctctttatgttaactggatttctgcattaaatgactgcccccttgttaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:130733 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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