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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAM162A
family with sequence similarity 162 member A
Chromosome 3 · 3q21.1
NCBI Gene: 26355Ensembl: ENSG00000114023.16HGNC: HGNC:17865UniProt: Q96A26
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of apoptotic processcellular response to hypoxiapositive regulation of release of cytochrome c from mitochondriaEpidermal Inclusion Cystretinitis pigmentosaFamilial exudative vitreoretinopathysebaceous gland disease
✦AI Summary

FAM162A (family with sequence similarity 162 member A) is a mitochondrial protein that plays a critical role in regulating apoptosis, particularly under hypoxic conditions. The protein is localized to the cristae of mitochondria, as confirmed by integrative molecular dynamics simulations and super-resolution microscopy 1. FAM162A promotes apoptotic processes through multiple mechanisms, including facilitating cytochrome C release from mitochondria and activating caspases such as CASP9, while also inducing mitochondrial permeability transition 2. In neuronal cells, the protein may promote apoptosis by facilitating the release of AIFM1 from mitochondria to the cytoplasm and its nuclear translocation. FAM162A expression is upregulated in response to hypoxic stress and during pathological conditions including chr3 cerebral ischemia 3. The gene serves as a prognostic biomarker in multiple cancer types, including osteosarcoma and colon cancer, where its expression correlates with patient outcomes 456. In cardiac tissue, FAM162A is enriched in cardiomyocytes and shows differential expression patterns in heart disease models, suggesting potential therapeutic relevance 7. The protein's role in hypoxia-induced apoptosis makes it particularly relevant for understanding tumor biology and ischemic injury responses.

Sources cited
1
FAM162A is localized to the cristae of mitochondria as validated through integrative molecular dynamics simulations and super-resolution microscopy
PMID: 39644219
2
FAM162A promotes apoptosis through cytochrome C release, caspase activation (CASP9), and mitochondrial permeability transition
PMID: 15082785
3
FAM162A expression is upregulated in chronic cerebral ischemia and oxygen-glucose deprivation conditions
PMID: 37097350
4
FAM162A serves as a prognostic gene in osteosarcoma associated with polyamine metabolism
PMID: 40383808
5
FAM162A is part of a glycolysis-related gene signature with prognostic value in colon cancer
PMID: 35963622
6
FAM162A is included in a glycolysis-related risk model for osteosarcoma metastasis prediction
PMID: 36387908
7
FAM162A is cardiac-enriched and shows differential expression in heart disease models
PMID: 33262348
Disease Associationsⓘ20
Epidermal Inclusion CystOpen Targets
0.07Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
sebaceous gland diseaseOpen Targets
0.06Suggestive
mathematical abilityOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
early-onset non-syndromic cataractOpen Targets
0.05Suggestive
acneOpen Targets
0.05Suggestive
HypocalcemiaOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.05Suggestive
Malformation syndrome with skin/mucosae involvementOpen Targets
0.05Suggestive
Cone rod dystrophyOpen Targets
0.05Suggestive
Coats diseaseOpen Targets
0.05Suggestive
cataract 50 with or without glaucomaOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
retinitis pigmentosa 84Open Targets
0.05Suggestive
Posterior polar cataractOpen Targets
0.05Suggestive
Rare isolated myopiaOpen Targets
0.05Suggestive
retinitis pigmentosa 86Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HRKShared pathway29%MLLT11Shared pathway25%BLIDShared pathway25%C3orf38Shared pathway25%PNMA5Shared pathway25%STPG1Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Liver
61%
Ovary
41%
Brain
39%
Bone Marrow
23%
Lung
16%
Gene Interaction Network
Click a node to explore
FAM162AHRKMLLT11BLIDC3orf38PNMA5STPG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96A26
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.68–1.64]
RankingsWhere FAM162A stands among ~20K protein-coding genes
  • #9,202of 20,598
    Most Researched47
  • #15,862of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedFAM162A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and verification of a polyamine metabolism-related gene signature for predicting prognosis and immune infiltration in osteosarcoma.
PMID: 40383808
J Orthop Surg Res · 2025
1.00
2
A novel hypoxia- and lactate metabolism-related prognostic signature to characterize the immune landscape and predict immunotherapy response in osteosarcoma.
PMID: 39569192
Front Immunol · 2024
0.90
3
Integrative Molecular Dynamics Simulations Untangle Cross-Linking Data to Unveil Mitochondrial Protein Distributions.
PMID: 39644219
Angew Chem Int Ed Engl · 2025
0.80
4
Mechanism of Dcp2/RNCR3/Dkc1/Snora62 axis regulating neuronal apoptosis in chronic cerebral ischemia.
PMID: 37097350
Cell Biol Toxicol · 2023
0.70
5
Bioinformatic analysis of membrane and associated proteins in murine cardiomyocytes and human myocardium.
PMID: 33262348
Sci Data · 2020
0.60