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TMEM87B (transmembrane protein 87B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84910
Gene nameGene Name - the full gene name approved by the HGNC.
Transmembrane protein 87B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TMEM87B
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q13
SummarySummary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs369634007 A>G Likely-pathogenic Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017733 hsa-miR-335-5p Microarray 18185580
MIRT621782 hsa-miR-606 HITS-CLIP 23824327
MIRT621781 hsa-miR-5003-3p HITS-CLIP 23824327
MIRT621780 hsa-miR-4476 HITS-CLIP 23824327
MIRT621779 hsa-miR-6876-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0005829 Component Cytosol IEA
GO:0006810 Process Transport IBA 21873635
GO:0016020 Component Membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MVAACRSVAGLLPRRRRCFPARAPLLRVALCLLCWTPAAVRAVPELGLWLETVNDKSGPL
IFRKTMFNSTDIKLSVKSFHCSGPVKFTIVWHLKYHTCHNEHSNLEELFQKHKLSVDEDF
CHYLKNDNCWTTKNENLDCNSDSQVFPSLNNKELINIRNVSNQERSMDVVARTQKDGFHI
FIVSIKTENTDASWNLNVSLSMIGPHGYISASDWPLMIFYMVMCIVYILYGILWLTWSAC
YWKDILRIQFWIAAVIFLGMLEKAVFYSEYQNISNTGLSTQGLLIFAELISAIKRTLARL
LVIIVSLGYGIVKPRLGTVMHRVIGLGLLYLIFAAVEGVMRVIGGSNHLAVVLDDIILAV
IDSIFVWFIFISLAQTMKTLRLRKNTVKFSLYRHFKNTLIFAVLASIVFMGWTTKTFRIA
KCQSDWMERWVDDAFWSFLFSLILIVIMFLWRPSANNQ
RYAFMPLIDDSDDEIEEFMVTS
ENLTEGIKLRASKSVSNGTAKPATSENFDEDLKWVEENIPSSFTDVALPVLVDSDEEIMT
RSEMAEKMFSSEKIM
Sequence length 555
Interactions View interactions
Associated diseases
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

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