TMEM87B transmembrane protein 87B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM87Bprovided by HGNC
Official Full Name: transmembrane protein 87Bprovided by HGNC
Primary source: HGNC:HGNC:25913
See related: Ensembl:ENSG00000153214 MIM:617203; AllianceGenome:HGNC:25913
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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 brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]
Expression: Ubiquitous expression in prostate (RPKM 18.0), colon (RPKM 17.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q13

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (112055269..112119314)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (112482241..112546253)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (112812846..112876891)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome.
Title: Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103240 (e-PCR)
- UniSTS:97572

D2S1495E (e-PCR)
- UniSTS:150338

RH120909 (e-PCR)
- UniSTS:133764

D2S2895 (e-PCR)
- UniSTS:34234

G16382 (e-PCR)
- UniSTS:23234

SHGC-64340 (e-PCR)
- UniSTS:52215

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within retrograde transport, endosome to Golgi	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi cisterna membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protein 87B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051358.1 RefSeqGene

Range

5047..69092

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001329914.2 → NP_001316843.1 transmembrane protein 87B isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon and contains an additional alternate exon, compared to variant 1. It encodes isoform 2, which is of the same length, but differs in sequence, compared to isoform 1.

Source sequence(s)

AC092645, AC093675

Consensus CDS

CCDS92843.1

UniProtKB/TrEMBL

A0A494BZZ8, H7C0B3

Related

ENSP00000498298.2, ENST00000650799.2

Conserved Domains (1) summary

pfam06814
Location:174 → 458

Lung_7-TM_R; Lung seven transmembrane receptor
NM_032824.3 → NP_116213.1 transmembrane protein 87B isoform 1 precursor

See identical proteins and their annotated locations for NP_116213.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC092645, AI806006, AK027587, AK074243, DA550235

Consensus CDS

CCDS33275.1

UniProtKB/Swiss-Prot

A8K2M9, Q1RLN2, Q53R54, Q96K49

UniProtKB/TrEMBL

H7C0B3

Related

ENSP00000283206.4, ENST00000283206.9

Conserved Domains (1) summary

pfam06814
Location:174 → 458

Lung_7-TM_R; Lung seven transmembrane receptor