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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAM167A
family with sequence similarity 167 member A
Chromosome 8 · 8p23.1
NCBI Gene: 83648Ensembl: ENSG00000154319.17HGNC: HGNC:15549UniProt: A0AAG2UYC2
33PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein binding
✦AI Summary

FAM167A (Family with Sequence Similarity 167 Member A) is a susceptibility gene implicated in autoimmune disease pathogenesis, particularly through its genomic linkage with the B-lymphoid tyrosine kinase (BLK) gene. The FAM167A-BLK locus contains polymorphisms that confer genetic risk for multiple autoimmune conditions 1. Mechanistically, variants in this locus appear to influence immune cell function and B-cell differentiation pathways, as evidenced by single-cell expression quantitative trait loci studies showing FAM167A as a causal gene in systemic lupus erythematosus across diverse immune cell types 2. The gene demonstrates significant disease relevance, with meta-analyses confirming that FAM167A-BLK rs2736340 polymorphisms are associated with rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Kawasaki disease, and primary Sjögren's syndrome across multiple ethnic populations 1. Additionally, variants show associations with asthma and allergic rhinitis in Han Chinese populations 3. Clinically, FAM167A represents a promising therapeutic target with low risk of adverse effects, as phenome-wide association studies reveal few significant associations with non-immune traits 2. The gene's upregulation in disease-specific tissues suggests its involvement in pathogenic processes that increase cardiovascular disease risk in autoimmune patients 4.

Sources cited
1
Meta-analysis confirming FAM167A-BLK rs2736340 polymorphism association with multiple autoimmune diseases
PMID: 27105348
2
Single-cell eQTL studies showing FAM167A as causal gene in SLE and low risk therapeutic target
PMID: 41233983
3
Association with asthma and allergic rhinitis in Han Chinese population
PMID: 27088737
4
Gene upregulation in disease tissues and cardiovascular disease risk association
PMID: 40350475
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BLKProtein interaction87%XKR6Protein interaction74%MTMR7Protein interaction71%MTMR9Protein interaction71%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
FAM167ABLKXKR6MTMR7MTMR9
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96KS9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.58 [1.11–1.93]
RankingsWhere FAM167A stands among ~20K protein-coding genes
  • #11,333of 20,598
    Most Researched33
  • #17,516of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedFAM167A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
PMID: 20861858
Genes Immun · 2011
1.00
2
Single-cell transcriptome-wide Mendelian randomization and colocalization reveal cell-specific mechanisms in systemic lupus erythematosus.
PMID: 41233983
Rheumatology (Oxford) · 2026
0.90
3
Post-genome-wide association study dissects genetic vulnerability and risk gene expression of Sjögren's disease for cardiovascular disease.
PMID: 40350475
J Transl Med · 2025
0.80
4
Management of Kawasaki disease.
PMID: 24162006
Arch Dis Child · 2014
0.70
5
Association of FAM167A-BLK rs2736340 Polymorphism with Susceptibility to Autoimmune Diseases: A Meta-Analysis.
PMID: 27105348
Immunol Invest · 2016
0.60