• Gene id: 3171

Gene Summary

• Gene Symbol: FOXA3   Gene   UCSC   Ensembl
• Aliases: FKHH3, HNF3G, TCF3G
• Gene name: forkhead box A3
• Alternate names: hepatocyte nuclear factor 3-gamma, HNF-3-gamma, HNF-3G, TCF-3G, fork head-related protein FKH H3, forkhead box protein A3, transcription factor 3G,
• Gene location: 19q13.32 (45864325: 45873796)     Exons: 2     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar fami
• OMIM: 602295

SNPs

rs11204546

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.247896410T>A
NC_000001.11   g.247896410T>C
NC_000001.11   g.247896410T>G
NC_000001.10   g.248059712T>A
NC_000001.10   g.248059712T>C
NC_000001.10   g.248059712T>G
NG_053132.1   g.5824T>A
NG_053132.1   g.5824T>C
NG_053132.1   g.5824T>G
NM_001001957.2   c

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Male subfertility	MIK: 17488644
Male subfertility	MIK: 17488644
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17488644	Male subfertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R