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GeneE
3 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.
FAM185A
family with sequence similarity 185 member A
Chromosome 7 Β· 7q22.1
NCBI Gene: 222234Ensembl: ENSG00000222011.10HGNC: HGNC:22412UniProt: Q8N0U4
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondriontype 2 diabetes mellitusAbnormality of the skeletal systemdiabetes mellitusbreast cancer
✦AI Summary

FAM185A is a nuclear-encoded gene localized to chromosome 7 with predicted mitochondrial function based on GO annotations indicating mitochondrion localization and protein binding capacity. While its precise molecular function remains incompletely characterized, FAM185A has been identified as a nuclear-encoded mitochondrial variant associated with exercise response phenotypes. Specifically, the rs113400963 SNP in FAM185A was found to be significantly associated with high-intensity interval training outcomes in a genome-wide analysis of mitochondrial and nuclear-encoded mitochondrial genes 1. This suggests FAM185A may participate in mitochondrial energy metabolism or adaptive responses to exercise stress. In disease contexts, FAM185A was identified as one of 12 genes differentially expressed between immunologically "hot" and "cold" colorectal tumors, indicating potential involvement in tumor immune microenvironment regulation 2. Additionally, FAM185A was identified as a transcription factor in thymoma dysfunction modules associated with immune-related biological functions, including neutrophil-mediated immunity 3. Collectively, these findings suggest FAM185A may function in mitochondrial processes and immune regulation, though direct functional validation and mechanistic studies are needed to establish its precise role in these biological processes.

Sources cited
1
FAM185A rs113400963 SNP is associated with exercise response phenotypes and high-intensity interval training outcomes
PMID: 32632177
2
FAM185A is differentially expressed between hot and cold colorectal tumors and identified as a potential immune-related target
PMID: 35401882
3
FAM185A identified as a transcription factor in thymoma dysfunction modules involved in immune-related biological functions
PMID: 33277874
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.40Weak
diabetes mellitusOpen Targets
0.39Weak
breast cancerOpen Targets
0.27Weak
diverticular diseaseOpen Targets
0.08Suggestive
hemorrhoidOpen Targets
0.06Suggestive
insomniaOpen Targets
0.06Suggestive
intestinal diseaseOpen Targets
0.05Suggestive
abdominal abscessOpen Targets
0.05Suggestive
circadian rhythmOpen Targets
0.05Suggestive
autoimmune diseaseOpen Targets
0.02Suggestive
mental or behavioural disorderOpen Targets
0.02Suggestive
response to statinOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
familial pancreatic carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PEX7Protein interaction90%PEX13Protein interaction90%PEX5Protein interaction90%PEX5LProtein interaction90%
Tissue Expression6 tissues
Liver
100%
Ovary
83%
Heart
66%
Brain
64%
Lung
47%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
FAM185APEX7PEX13PEX5PEX5L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N0U4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.41–0.91]
RankingsWhere FAM185A stands among ~20K protein-coding genes
  • #16,748of 20,598
    Most Researched11
  • #8,304of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedFAM185A
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Comprehensive Analysis of Colorectal Cancer Immunity and Identification of Immune-Related Prognostic Targets.
PMID: 35401882
Dis Markers Β· 2022
1.00
2
Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes.
PMID: 32632177
Sci Rep Β· 2020
0.67
3
The expression pattern of ACTBL2 in thymoma reveals its potential therapeutic target efficacy.
PMID: 33277874
J BUON Β· 2020
0.33