Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84910
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 87B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM87B
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q13
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617203 25913 ENSG00000153214
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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
27148590
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
27148590
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Restrictive cardiomyopathy Restrictive cardiomyopathy rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583 27148590
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Diabetes Diabetes GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Myocardial Infarction Myocardial Infarction GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic lateral sclerosis 1 Associate 35853630
Cluster Headache Associate 34180076
Squamous Cell Carcinoma of Head and Neck Associate 35409173
Uveitis Anterior Associate 32492107