SPATA21 (spermatogenesis associated 21)

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Gene Gene information from NCBI Gene database.
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Entrez ID 374955
Gene name Spermatogenesis associated 21
Gene symbol SPATA21
Synonyms (NCBI Gene)
spergen-2spergen2
Chromosome 1
Chromosome location 1p36.13
miRNA miRNA information provided by mirtarbase database.
116 Show/Hide all (116)
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miRTarBase ID miRNA Experiments Reference
MIRT618802 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT631490 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT631489 hsa-miR-1304-3p HITS-CLIP 23824327
MIRT618801 hsa-miR-4772-3p HITS-CLIP 23824327
MIRT618800 hsa-miR-124-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z572
Protein name Spermatogenesis-associated protein 21
Protein function Involved in the differentiation of haploid spermatids.
Family and domains
Sequence 
MDNRNTQMYTEEEKTVNPFLPSTPGPKKAKGGGEAVETHPAPGPLPPPEVRDIGERREPD
RAQQQPQKPAVAAGTQSLGNFRQGFMKCLLEVEKMEASHRRASKARSQTAQKSPRTLTPV
PTSAPSLPQTPASVPASGPSWARLPAPGPEPAPMGAPVPTSMPCPVLLGPALDLGWRRME
LLHQSSERTLSYAKARQEPEEQSLQKLYQNREKSEEQLTLKQEEAFRSYFEIFNGPGEVD
AQSLKNILLLMGFSVTLAQVEDALMSADVNGDGRVDFKDFLAVMTDTRRFFCSVEQNALS
DMAPHNPHTLLFEILSLLVEMLALPEAVLEEITNYYQKKLKEGTCKAQEMEAAVGRLRLQ
KLPYNPQQEESSEVPERKVLSILSRLKQQNYAPNLQSPYAQVPCILLCPQLDKKMVRRQP
SNHYALDQCTPPGLDPDIRSPFFQSGSQGNREHNSDSRKWLSSVPARTH
Sequence length 469
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog 38411962
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS — CTD 19233941
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION — GWAS catalog 38072966
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME — CTD, Disgenet
CTD, Disgenet 		21411543
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 25811265
★★★★★
★☆☆☆☆
Found in Text Mining only
Essential Tremor Essential tremor Pubtator 36183486 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms CTD_human_DG 19233941
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of liver Liver Cancer CTD_human_DG 19233941
★★★★★
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic Ovary Syndrome CTD_human_DG 21411543
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries Sclerocystic Ovaries CTD_human_DG 21411543
★★★★★
★☆☆☆☆
Found in Text Mining only
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TTLL9 2 shared diseasesLiver neoplasms, Polycystic ovary syndrome 2 shared evidence sourcesCTD (Liver neoplasms), CTD (Polycystic ovary syndrome) Related via 2 shared diseases including Liver neoplasms, Polycystic ovary syndrome — evidence mostly CTD. RTP3 2 shared diseasesLiver neoplasms, Polycystic ovary syndrome 1 shared evidence sourceCTD (Liver neoplasms) Related via 2 shared diseases including Liver neoplasms, Polycystic ovary syndrome — evidence mostly CTD. DDX54 2 shared diseasesLiver neoplasms, Polycystic ovary syndrome 3 shared evidence sourcesCTD (Liver neoplasms), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Liver neoplasms, Polycystic ovary syndrome — evidence mostly CTD. TOP2A 2 shared diseasesLiver neoplasms, Polycystic ovary syndrome 3 shared evidence sourcesCTD (Liver neoplasms), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Liver neoplasms, Polycystic ovary syndrome — evidence mostly CTD. FST 2 shared diseasesLiver neoplasms, Polycystic ovary syndrome 2 shared evidence sourcesCTD (Liver neoplasms), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Liver neoplasms, Polycystic ovary syndrome — evidence mostly CTD.
Hepatocellular carcinoma Linked via 3 of 5 related genesRTP3, TOP2A, FST Breast neoplasms Linked via 2 of 5 related genesTOP2A, FST Male infertility single gene azoospermia Linked via 1 of 5 related genesTTLL9 Congenital hypoplasia of kidney Linked via 1 of 5 related genesDDX54 Intellectual developmental disorder Linked via 1 of 5 related genesDDX54