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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BCAP31
B cell receptor associated protein 31
Chromosome X Β· Xq28
NCBI Gene: 10134Ensembl: ENSG00000185825.18HGNC: HGNC:16695UniProt: P51572
216PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranemitochondria-associated endoplasmic reticulum membrane contact siteperinuclear endoplasmic reticulummembranesevere motor and intellectual disabilities-sensorineural deafness-dystonia syndromeadrenoleukodystrophyCADDSgenetic disorder
✦AI Summary

BCAP31 is an abundant endoplasmic reticulum (ER) transmembrane protein that functions as a chaperone involved in protein quality control and transport 12. The protein plays critical roles in exporting secreted proteins from the ER, recognizing misfolded proteins, and targeting them for ER-associated degradation (ERAD) 12. Additionally, BCAP31 facilitates mitochondrial respiratory chain assembly by promoting translocation of NDUFS4 and NDUFB11 to mitochondria through interaction with TOMM40 3. Under ER stress conditions, BCAP31 delocalizes from ER-mitochondria contact sites and binds BCL2, potentially contributing to apoptotic signaling 34. Clinically, loss-of-function mutations in BCAP31 cause X-linked developmental disorders characterized by severe developmental delay, deafness, dystonia, and cerebral hypomyelination 5. Recent studies demonstrate that BCAP31 dysfunction leads to mitochondrial impairment, including increased ROS production, reduced ATP levels, and decreased mitochondrial membrane potential 6. The protein has emerged as a potential biomarker in various cancers, where overexpression correlates with poor prognosis and enhanced tumor cell proliferation, migration, and invasion through multiple signaling pathways 789.

Sources cited
1
BCAP31 functions as a chaperone protein and is one of the most abundant ER proteins
PMID: 18287538
2
BCAP31 plays roles in protein export, recognition of misfolded proteins, and ERAD targeting
PMID: 9396746
3
BCAP31 facilitates mitochondrial respiratory chain assembly and responds to ER stress by binding BCL2
PMID: 31206022
4
BCAP31 may be involved in CASP8-mediated apoptosis
PMID: 10958671
5
BCAP31 loss-of-function mutations cause X-linked developmental disorders with deafness and dystonia
PMID: 24597975
6
BCAP31 dysfunction leads to mitochondrial impairment with increased ROS and reduced ATP
PMID: 40462059
7
BCAP31 overexpression in cancers correlates with poor prognosis
PMID: 39737177
8
BCAP31 modulates colorectal cancer cell proliferation
PMID: 35716785
9
BCAP31 influences migration and invasion in non-small-cell lung cancer
PMID: 32132574
Disease Associationsβ“˜21
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeOpen Targets
0.76Strong
adrenoleukodystrophyOpen Targets
0.58Moderate
CADDSOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
X-linked cerebral adrenoleukodystrophyOpen Targets
0.27Weak
hypertensionOpen Targets
0.14Weak
Global developmental delayOpen Targets
0.12Weak
hereditary ataxiaOpen Targets
0.12Weak
peroxisome biogenesis disorder 2BOpen Targets
0.12Weak
SeizureOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
microcephalyOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
cervical cancerOpen Targets
0.09Suggestive
response to xenobiotic stimulusOpen Targets
0.09Suggestive
Parkinson diseaseOpen Targets
0.09Suggestive
Deafness, dystonia, and cerebral hypomyelinationUniProt
Pathogenic Variants17
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)Pathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2018β†’ Residue 122
NM_001256447.2(BCAP31):c.466C>T (p.Gln156Ter)Likely pathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 156
NM_001256447.2(BCAP31):c.400G>T (p.Glu134Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 134
NM_001256447.2(BCAP31):c.526A>T (p.Lys176Ter)Pathogenic
BCAP31-related disorder|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 176
NM_001256447.2(BCAP31):c.247C>T (p.Gln83Ter)Likely pathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 83
NM_001256447.2(BCAP31):c.67T>C (p.Cys23Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 23
NM_001256447.2(BCAP31):c.295del (p.Ala99fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 99
NM_001256447.2(BCAP31):c.477+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter)Pathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 139
NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 31
NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 247
NM_001256447.2(BCAP31):c.309_310del (p.Tyr104fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 104
NM_001256447.2(BCAP31):c.341+2T>GPathogenic
not provided|Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†2015
NM_001256447.2(BCAP31):c.-44-270C>APathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
β˜†β˜†β˜†β˜†2014
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter)Pathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome|Thyroid cancer, nonmedullary, 1
β˜†β˜†β˜†β˜†2013β†’ Residue 33
NC_000023.11:g.153696346_153701690delPathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
β˜†β˜†β˜†β˜†2013
NM_001256447.2(BCAP31):c.194-2A>GPathogenic
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
β˜†β˜†β˜†β˜†2013
View on ClinVar β†—
Related Genes
VAPBProtein interaction100%DNM1LProtein interaction100%CASP8Protein interaction99%MFN2Protein interaction99%HSPA5Protein interaction97%VDAC1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
93%
Bone Marrow
78%
Brain
77%
Heart
69%
Ovary
69%
Gene Interaction Network
Click a node to explore
BCAP31VAPBDNM1LCASP8MFN2HSPA5VDAC1
PROTEIN STRUCTURE
Preparing viewer…
PDB4JZP Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
RankingsWhere BCAP31 stands among ~20K protein-coding genes
  • #1,916of 20,598
    Most Researched216 Β· top 10%
  • #2,318of 5,498
    Most Pathogenic Variants17
Genes detectedBCAP31
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
BCAP31 promotes colorectal cancer metastasis via oxidative phosphorylation-dependent macrophage immunosuppression: A single-cell transcriptomic study.
PMID: 40769312
Free Radic Biol Med Β· 2025
1.00
2
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
PMID: 24597975
Clin Genet Β· 2015
0.90
3
BAP31 Promotes Angiogenesis via Galectin-3 Upregulation in Neuroblastoma.
PMID: 38474195
Int J Mol Sci Β· 2024
0.84
4
Pan-cancer analysis shows that BCAP31 is a potential prognostic and immunotherapeutic biomarker for multiple cancer types.
PMID: 39737177
Front Immunol Β· 2024
0.80
5
Legionella uses host Rab GTPases and BAP31 to create a unique ER niche.
PMID: 39661521
Cell Rep Β· 2024
0.72