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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TMEM87B
transmembrane protein 87B
Chromosome 2 Β· 2q13
NCBI Gene: 84910Ensembl: ENSG00000153214.11HGNC: HGNC:25913UniProt: A0A494BZZ8
23PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
retrograde transport, endosome to GolgiGolgi apparatusGolgi cisterna membraneGolgi membranetype 2 diabetes mellituspreeclampsiaVaricose veinsAbnormality of the skeletal system
✦AI Summary

TMEM87B (transmembrane protein 87B) is a Golgi-resident membrane protein that functions in retrograde transport from endosomes to the trans-Golgi network (TGN) 1. The protein belongs to the GOLD domain seven-transmembrane helix (GOST) protein family, which includes eight structurally related proteins that may serve common roles in trafficking membrane-associated cargo 2. TMEM87B can partially restore both endosome-to-TGN retrograde transport and anterograde transport when overexpressed in cells with defective GARP complex function, indicating its involvement in maintaining efficient protein trafficking pathways 1. The protein appears to play important roles in development, as TMEM87B knockdown in zebrafish results in cardiac hypoplasia, and its deficiency has been implicated in congenital heart defects associated with 2q13 deletion syndrome 34. In pathological contexts, TMEM87B is upregulated in glioma and promotes tumor progression while decreasing sensitivity to temozolomide chemotherapy 5. Additionally, differential expression of TMEM87B has been observed in cluster headache patients, suggesting potential involvement in neurological conditions 6. However, the precise molecular mechanisms underlying these diverse functions require further investigation.

Sources cited
1
TMEM87B functions in endosome-to-TGN retrograde transport and can restore trafficking defects
PMID: 26157166
2
TMEM87B belongs to the GOLD domain seven-transmembrane helix protein family involved in trafficking membrane-associated cargo
PMID: 36373655
3
TMEM87B deficiency causes cardiac hypoplasia in zebrafish and is implicated in congenital heart defects in 2q13 deletion syndrome
PMID: 24694933
4
TMEM87B maps within the 2q13 critical region and confers susceptibility to congenital heart defects
PMID: 34763108
5
TMEM87B is upregulated in glioma, promotes tumor progression, and decreases temozolomide sensitivity
PMID: 39929351
6
TMEM87B shows differential expression in cluster headache patients
PMID: 34180076
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.33Weak
preeclampsiaOpen Targets
0.32Weak
Varicose veinsOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
hypertensionOpen Targets
0.27Weak
sialolithiasisOpen Targets
0.27Weak
goutOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.24Weak
Tietze syndromeOpen Targets
0.20Weak
essential hypertensionOpen Targets
0.13Weak
multiple sclerosisOpen Targets
0.12Weak
cirrhosis of liverOpen Targets
0.11Weak
hepatitis C virus infectionOpen Targets
0.11Weak
Cluster headacheOpen Targets
0.11Weak
obesityOpen Targets
0.08Suggestive
lymphatic system diseaseOpen Targets
0.07Suggestive
hemorrhoidOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_032824.3(TMEM87B):c.1366A>G (p.Asn456Asp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 456
View on ClinVar β†—
Related Genes
DENND2AShared pathway100%FBLN7Protein interaction76%DENND5AShared pathway50%BET1LShared pathway50%VPS50Shared pathway50%TBC1D17Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
92%
Ovary
52%
Heart
49%
Liver
49%
Brain
40%
Gene Interaction Network
Click a node to explore
TMEM87BDENND2AFBLN7DENND5ABET1LVPS50TBC1D17
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96K49
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.33LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.07 [0.86–1.33]
RankingsWhere TMEM87B stands among ~20K protein-coding genes
  • #13,551of 20,598
    Most Researched23
  • #5,343of 5,498
    Most Pathogenic Variants1
  • #13,964of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedTMEM87B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structure of the GOLD-domain seven-transmembrane helix protein family member TMEM87A.
PMID: 36373655
Elife Β· 2022
1.00
2
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
PMID: 26227573
Am J Med Genet A Β· 2015
0.90
3
Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.
PMID: 24694933
Hum Mol Genet Β· 2014
0.80
4
Transgenerational hepatotoxicity induced by bisphenol B as a substitute for bisphenol A.
PMID: 40706523
Ecotoxicol Environ Saf Β· 2025
0.70
5
KLF11/TMEM87B promoted the occurrence of glioma and decreased TMZ sensitivity.
PMID: 39929351
Cell Signal Β· 2025
0.60