ELSPBP1 (epididymal sperm binding protein 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 64100
Gene name Epididymal sperm binding protein 1
Gene symbol ELSPBP1
Synonyms (NCBI Gene)
E12EDDM12EL149HE12
Chromosome 19
Chromosome location 19q13.33
Summary The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT1984937 hsa-miR-3145-3p CLIP-seq
MIRT1984938 hsa-miR-4699-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0007338 Process Single fertilization IEA
GO:0008201 Function Heparin binding IBA
GO:0008201 Function Heparin binding IEA
GO:0009986 Component Cell surface IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607443 14417 ENSG00000169393
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BH3
Protein name Epididymal sperm-binding protein 1 (Epididymal secretory protein 12) (hE12)
Protein function Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00040 fn2 29 → 66 Fibronectin type II domain Domain
PF00040 fn2 74 → 115 Fibronectin type II domain Domain
PF00040 fn2 129 → 168 Fibronectin type II domain Domain
PF00040 fn2 182 → 223 Fibronectin type II domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in cauda epididymidal fluid and on sperm membrane (at protein level). {ECO:0000269|PubMed:11144225, ECO:0000269|PubMed:17307309}.
Sequence
Sequence length 223
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
GASTRIC CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Focal Facial Dermal Dysplasias Associate 21801849
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Associate 35663320
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 9821964
★★★★★
★☆☆☆☆
Found in Text Mining only
Rhabdomyosarcoma Associate 19299559
★★★★★
★☆☆☆☆
Found in Text Mining only
Virilism Associate 35663320
★★★★★
★☆☆☆☆
Found in Text Mining only