SPATA22 (spermatogenesis associated 22)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84690
Gene name Gene Name - the full gene name approved by the HGNC.
Spermatogenesis associated 22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPATA22
Synonyms (NCBI Gene) Gene synonyms aliases
NYD-SP20, NYDSP20, POF25, SPGF96
Disease Acronyms (UniProt) Disease acronyms from UniProt database
POF25, SPGF96
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
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(6)
GO ID Ontology Definition Evidence Reference
GO:0000711 Process Meiotic DNA repair synthesis IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005694 Component Chromosome ISS
GO:0007129 Process Homologous chromosome pairing at meiosis IEA
GO:0007276 Process Gamete generation IEA
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
617673 30705 ENSG00000141255
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8NHS9
Protein name Spermatogenesis-associated protein 22 (Testis development protein NYD-SP20)
Protein function Meiosis-specific protein required for homologous recombination in meiosis I.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adult testis. {ECO:0000269|PubMed:15713825}.
Sequence 
MKRSLNENSARSTAGCLPVPLFNQKKRNRQPLTSNPLKDDSGISTPSDNYDFPPLPTDWA
WEAVNPELAPVMKTVDTGQIPHSVSRPLRSQDSVFNSIQSNTGRSQGGWSYRDGNKNTSL
KTWNKNDFKPQCKRTNLVANDGKNSCPVSSGAQQQKQLRIPEPPNLSRNKETELLRQTHS
SKISGCTMRGLDKNSALQTLKPNFQQNQYKKQMLDDIPEDNTLKETSLYQLQFKEKASSL
RIISAVIESMKYWREHAQKTVLLFEVLAVLDSAVTPGPYYSKTFLMRDGKNTLPCVFYEI
DRELPRLIRGRVHRCVGNYDQKKNIFQCVSVRPASVSEQKTFQAFVKIADVEMQYYINVM
NET
Sequence length 363
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 (2)
Causal
Disease term Disease name dbSNP ID References
Canavan disease Canavan Disease, Canavan Disease, Familial Form rs28940279, rs104894548, rs28940574, rs104894549, rs12948217, rs104894553, rs63751297, rs767666474, rs766328537, rs780936696, rs786204572, rs761064915, rs774323189, rs756198538, rs1057516995
View all (8 more)		 18070137, 7668285, 18978679, 8252036, 8023850, 8037206, 23971085, 22019069, 22611636, 17391648, 16854607, 16217711, 12205125, 8659549, 27927234
View all (24 more)
Myopia Myopia, Degenerative rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)		 23049088
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Azoospermia Associate 23675907