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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM170A
family with sequence similarity 170 member A
Chromosome 5 · 5q23.1
NCBI Gene: 340069Ensembl: ENSG00000164334.16HGNC: HGNC:27963UniProt: A1A519
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleustranscription by RNA polymerase IIpositive regulation of DNA-templated transcriptionfertilizationalcohol drinkinginherited retinal dystrophyfrozen shoulderesophageal ulcer
✦AI Summary

FAM170A is a nuclear transcription factor that plays a critical role in male fertility through regulation of spermiogenesis. Primary Function: FAM170A acts as a positive regulator of chr5 remodeling during spermatogenesis, specifically governing the histone-to-protamine exchange process essential for sperm nuclear condensation 1. Mechanism: FAM170A localizes to the nucleus of elongating spermatids 2 and interacts with chr5 remodeling-associated proteins to regulate transcription of genes involved in this process 1. Critically, FAM170A directly binds the deubiquitinating enzyme Usp7 and facilitates its nuclear translocation, enhancing deubiquitination activity on testis-specific histone variants H2A and H2B, thereby promoting histone removal and protamine incorporation 1. Disease Relevance: FAM170A deficiency causes male subfertility characterized by abnormal sperm head morphology, reduced progressive motility, and defective spermiation 2. Notably, very low FAM170a transcription levels are observed in sperm of infertile men with teratozoospermia 1. Clinical Significance: FAM170A mutations have been identified in individuals with orofacial clefts co-occurring with limb abnormalities, suggesting broader developmental functions beyond reproduction 3. FAM170A represents a previously unrecognized key regulator of sperm chr5 remodeling with implications for diagnosing human male infertility.

Sources cited
1
FAM170A regulates histone-to-protamine exchange through interaction with Usp7 deubiquitinase and controls transcription of chromatin remodeling genes
PMID: 39868537
2
FAM170A knockout causes male subfertility with abnormal sperm morphology and reduced motility; FAM170A localizes to spermatid nuclei
PMID: 32588889
3
FAM170A variants are identified in individuals with orofacial clefts and limb abnormalities
PMID: 41510282
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.42Moderate
inherited retinal dystrophyOpen Targets
0.27Weak
frozen shoulderOpen Targets
0.27Weak
esophageal ulcerOpen Targets
0.26Weak
HypercholesterolemiaOpen Targets
0.24Weak
ovarian dysfunctionOpen Targets
0.21Weak
placental retentionOpen Targets
0.20Weak
digestive system neoplasmOpen Targets
0.20Weak
amyotrophic lateral sclerosisOpen Targets
0.15Weak
myeloid leukemiaOpen Targets
0.13Weak
lacrimal apparatus diseaseOpen Targets
0.13Weak
viral pneumoniaOpen Targets
0.13Weak
hypertensionOpen Targets
0.12Weak
obesityOpen Targets
0.12Weak
epilepsyOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TUBA4AProtein interaction76%ZMYND19Protein interaction76%MCHR1Protein interaction72%TSSK4Shared pathway50%ARMC3Shared pathway33%RIMBP3BShared pathway29%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
11%
Lung
11%
Brain
6%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
FAM170ATUBA4AZMYND19MCHR1TSSK4ARMC3RIMBP3B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A1A519
View on AlphaFold ↗
RankingsWhere FAM170A stands among ~20K protein-coding genes
  • #17,586of 20,598
    Most Researched8
Genes detectedFAM170A
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Fam170a deficiency causes male infertility by impairing histone-to-protamine exchange during mouse spermiogenesis.
PMID: 39868537
Nucleic Acids Res · 2025
1.00
2
Knockout of family with sequence similarity 170 member A (Fam170a) causes male subfertility, while Fam170b is dispensable in mice†.
PMID: 32588889
Biol Reprod · 2020
0.75
3
Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.
PMID: 41510282
Res Sq · 2025
0.50
4
Isolation and characterization of a novel zinc finger gene, ZNFD, activating AP1(PMA) transcriptional activities.
PMID: 20162441
Mol Cell Biochem · 2010
0.25