Gene Gene information from NCBI Gene database.
Entrez ID 10876
Gene name Epididymal protein 3A
Gene symbol EDDM3A
Synonyms (NCBI Gene)
EP3AFAM12AHE3-ALPHAHE3AHE3ALPHARAM1
Chromosome 14
Chromosome location 14q11.2
Summary Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive c
miRNA miRNA information provided by mirtarbase database.
22
miRTarBase ID miRNA Experiments Reference
MIRT952285 hsa-miR-1207-5p CLIP-seq
MIRT952286 hsa-miR-1244 CLIP-seq
MIRT952287 hsa-miR-141 CLIP-seq
MIRT952288 hsa-miR-1827 CLIP-seq
MIRT952289 hsa-miR-200a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space TAS 7514008
GO:0007321 Process Sperm displacement TAS 7514008
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611580 16978 ENSG00000181562
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14507
Protein name Epididymal secretory protein E3-alpha (Human epididymis-specific protein 3-alpha) (HE3-alpha)
Protein function Possible function in sperm maturation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00074 RnaseA 29 140 Pancreatic ribonuclease Domain
Tissue specificity TISSUE SPECIFICITY: Epididymis, with predominant expression in the corpus region. Moderately expressed in the vas deferens; only low levels are detectable in the caput and cauda regions.
Sequence
Sequence length 147
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cyclocephaly Cyclocephaly BEFREE 28789611
★☆☆☆☆
Found in Text Mining only