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

Gene ID: 84910, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
2q13
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112055269..112119314)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112482241..112546253)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (112812846..112876891)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MER proto-oncogene, tyrosine kinase Neighboring gene RTRAF pseudogene 1 Neighboring gene SLC30A6 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3720 Neighboring gene Sharpr-MPRA regulatory region 10261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16389 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:112818151-112818365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:112897779-112898492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:112914115-112914944 Neighboring gene NANOG hESC enhancer GRCh37_chr2:112925881-112926394 Neighboring gene fibulin 7 Neighboring gene zinc finger CCCH-type containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11870 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4107 Neighboring gene uncharacterized LOC124906182

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Hladilkova E, et al. Mol Cytogenet, 2015. PMID 26236398, Free PMC Article
  2. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Riley KN, et al. Am J Med Genet A, 2015 Nov. PMID 26227573
  3. Expression of TMEM87B interacting with the human papillomavirus type 18 E6 oncogene in the Hela cDNA library by a yeast two-hybrid system. Li S, et al. Oncol Rep, 2008 Aug. PMID 18636207
  4. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Yu HC, et al. Cold Spring Harb Mol Case Stud, 2016 May. PMID 27148590, Free PMC Article
  5. Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport. Hirata T, et al. Mol Biol Cell, 2015 Sep 1. PMID 26157166, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14681

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
  
involved_in 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
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
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

  1. NG_051358.1 RefSeqGene

    Range
    5047..69092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    112055269..112119314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263827.3 → XP_005263884.1  transmembrane protein 87B isoform X1

    See identical proteins and their annotated locations for XP_005263884.1

    UniProtKB/TrEMBL
    H7C0B3
    Conserved Domains (1) summary
    pfam06814
    Location:173 → 457
    Lung_7-TM_R; Lung seven transmembrane receptor

RNA

  1. XR_923049.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    112482241..112546253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344246.1 → XP_054200221.1  transmembrane protein 87B isoform X1

RNA

  1. XR_008486569.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96K49.1 GenPept UniProtKB/Swiss-Prot:Q96K49

Gene LinkOut

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