TMEM87B (transmembrane protein 87B)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84910 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Transmembrane protein 87B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TMEM87B |
SynonymsGene synonyms aliases
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- |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q13 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including bra |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs369634007 |
A>G |
Likely-pathogenic |
Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q96K49 |
Protein name |
Transmembrane protein 87B |
Protein function |
May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN). |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF06814 |
Lung_7-TM_R |
173 → 458 |
Lung seven transmembrane receptor |
Family |
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Sequence |
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Sequence length |
555 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Atrial septal defect |
Atrial Septal Defects |
rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125 |
27148590 |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
27148590 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
Restrictive cardiomyopathy |
Restrictive cardiomyopathy |
rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583 |
27148590 |
Skeletal dysplasia |
Skeletal dysplasia |
rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 |
27148590 |
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