SPATA16 (spermatogenesis associated 16)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83893
Gene name Gene Name - the full gene name approved by the HGNC.
Spermatogenesis associated 16
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPATA16
Synonyms (NCBI Gene) Gene synonyms aliases
NYD-SP12, SPGF6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPGF6
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0005794 Component Golgi apparatus IDA 12529416
GO:0007275 Process Multicellular organism development IEA
GO:0007283 Process Spermatogenesis IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609856 29935 ENSG00000144962
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BXB7
Protein name Spermatogenesis-associated protein 16 (Testis development protein NYD-SP12)
Protein function Essential for spermiogenesis and male fertility (By similarity). Involved in the formation of sperm acrosome during spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15015 NYD-SP12_N 5 → 567 Spermatogenesis-associated, N-terminal Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:12529416}.
Sequence
Sequence length 569
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Male infertility Male infertility due to globozoospermia rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Spermatogenic Failure spermatogenic failure 6 GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Mental Depression Mental Depression GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
Androgen Insensitivity Syndrome Inhibit 31671693
Azoospermia Associate 35248021, 37895049
Blindness Associate 33877510
Infertility Associate 24825417
Infertility Male Associate 17847006, 37895049
Inflammation Associate 28355295
Oligospermia Associate 35248021
Spermatogenic Failure 7 Associate 17847006
Teratozoospermia Associate 17847006, 21397063, 24825417, 31985809
Tuberculosis Pulmonary Associate 28355295