Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9825
Gene name Gene Name - the full gene name approved by the HGNC.
Spermatogenesis associated 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPATA2
Synonyms (NCBI Gene) Gene synonyms aliases
PD1, PPP1R145, tamo
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.13
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020308 hsa-miR-130b-3p Sequencing 20371350
MIRT025967 hsa-miR-7-5p Sequencing 20371350
MIRT026033 hsa-miR-196a-5p Sequencing 20371350
MIRT027331 hsa-miR-101-3p Sequencing 20371350
MIRT028290 hsa-miR-32-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 19615732, 24981860, 25416956, 27307491, 27458237, 27545878, 27591049, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607662 14681 ENSG00000158480
Protein
UniProt ID Q9UM82
Protein name Spermatogenesis-associated protein 2
Protein function Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-alpha-induced necroptosis (PubMed:27307491, PubMed:27458237, PubMed:27545878, PubMed:27591049). Acts as a direct binding intermediate that bridges
PDB 5LJM , 5LJN
Family and domains
Tissue specificity TISSUE SPECIFICITY: Present at high level in Sertoli cells, but not detected in spermatogenic cells (at protein level) (PubMed:10222154, PubMed:11079456). Low expression in spleen, thymus and prostate (PubMed:10222154). {ECO:0000269|PubMed:10222154, ECO:0
Sequence
MGKPSSMDTKFKDDLFRKYVQFHESKVDTTTSRQRPGSDECLRVAASTLLSLHKVDPFYR
FRLIQFYEVVESSLRSLSSSSLRALHGAFSMLETVGINLFLYPWKKEFRSIKTYTGPFVY
YVKSTLLEEDIRAILSCMGYTPELGTAYKLRELVETLQVKMVSFELFLAKVECEQMLEIH
SQVKDKGYSELDIVSERKSSAEDVRGCSDALRRRAEGREHLTASMSRVALQKSASERAAK
DYYKPRVTKPSRSVDAYDSYWESRKPPLKASLSLRKEPVATDVGDDLKDEIIRPSPSLLT
MASSPHGSPDVLPPASPSNGPALLRGTYFSTQDDVDLYTDSEPRATYRRQDALRPDVWLL
RNDAHSLYHKRSPPAKESALSKCQSCGLSCSSSLCQRCDSLLTCPPASKPSAFPSKASTH
DSLAHGASLREKYPGQTQGLDRLPHLHSKSKPSTTPTSRCGFCNRPGATNTCTQCSKVSC
DACLSAYHYDPCYKKSELHKFMPNNQLNYKSTQLSHLVYR
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Necroptosis  
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32372138, 35476781, 36197217
Anophthalmia with pulmonary hypoplasia Associate 37449843
Breast Neoplasms Associate 34667023, 38116315
Carcinoma Hepatocellular Associate 36461603
Carcinoma Non Small Cell Lung Associate 31692284, 36814090
Carcinoma Ovarian Epithelial Associate 35031063
Carcinoma Renal Cell Associate 35808868, 39776912
Colitis Stimulate 30863922
Colonic Neoplasms Associate 35413978
Colorectal Neoplasms Associate 34441055, 35101943, 35990637, 37023721, 37511338