Gene Gene information from NCBI Gene database.
Entrez ID 54558
Gene name Spermatogenesis associated 6
Gene symbol SPATA6
Synonyms (NCBI Gene)
HASHSRF-1SRF1
Chromosome 1
Chromosome location 1p33
miRNA miRNA information provided by mirtarbase database.
734
miRTarBase ID miRNA Experiments Reference
MIRT017397 hsa-miR-335-5p Microarray 18185580
MIRT029215 hsa-miR-26b-5p Microarray 19088304
MIRT608854 hsa-miR-511-3p HITS-CLIP 24906430
MIRT608853 hsa-miR-520f-5p HITS-CLIP 24906430
MIRT607810 hsa-miR-3650 HITS-CLIP 24906430
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005929 Component Cilium IEA
GO:0007283 Process Spermatogenesis IBA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613947 18309 ENSG00000132122
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWH7
Protein name Spermatogenesis-associated protein 6
Protein function Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14909 SPATA6 11 149 Spermatogenesis-assoc protein 6 Family
Sequence
MPKVKALQCALALEISSVTCPGVVLKDKEDIYLSICVFGQYKKTQCVPATFPLVFNARMV
FEKVFPDAVDPGDVVTQLEYDTAVFELIQLVPPVGETLSTYDENTRDFMFPGPNQMSGHH
DSNRQVTMRRISGLRGNAPRLEFSTTSVI
TECLISSRKCHTQDKFIYHLAPVEKSHGRLQ
NRTSRSQKKKSKSPERSKYCINAKNYEQPTISSKSHSPSPYTKRRMCELSEDTRRRLAHL
NLGPYEFKKETDKPPFVIRHVDPPSPRADTLLGSSGRDCERDGWSRVHNDHSHLGCCRPK
DYKVIRTPHGRDFDDSLEKCEEYLSPRSCSKPRHSARTLLVHSAPSTMPKHSPSPVLNRA
SLRERFHSDWCSPSNCDEIHDRVKNVLKSHQAHQRHLYDERDLEKDDELELKRSLLCRDS
AYDSDPEYSSCQQPRGTFHLDDGEYWSNRAASYKGKSHRPIFENSMDKMYRNLYKKACSS
ASHTQESF
Sequence length 488
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
MALIGNANT EPITHELIAL TUMOR OF OVARY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Infertility Associate 31838782
★☆☆☆☆
Found in Text Mining only
Testicular Germ Cell Tumor Associate 26464655
★☆☆☆☆
Found in Text Mining only