TSGA10 (testis specific 10)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 80705
Gene name Testis specific 10
Gene symbol TSGA10
Synonyms (NCBI Gene)
CEP4LCT79SPGF26
Chromosome 2
Chromosome location 2q11.2
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1553482689 C>- Pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
21
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
miRTarBase ID miRNA Experiments Reference
MIRT029969 hsa-miR-26b-5p Microarray 19088304
MIRT1458630 hsa-miR-338-5p CLIP-seq
MIRT1458631 hsa-miR-3919 CLIP-seq
MIRT1458632 hsa-miR-4481 CLIP-seq
MIRT1458633 hsa-miR-4658 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 25910212, 26871637, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IEA
GO:0005856 Component Cytoskeleton IEA
GO:0007283 Process Spermatogenesis TAS 11179690
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607166 14927 ENSG00000135951
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZW7
Protein name Testis-specific gene 10 protein (Testis development protein NYD-SP7)
Protein function Plays a role in spermatogenesis (PubMed:28905369). When overexpressed, prevents nuclear localization of HIF1A (By similarity).
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in the testis, in spermatozoa (at protein level) (PubMed:11179690, PubMed:28905369). Expressed in actively dividing fetal tissues, including sternum, intestine, limb, kidney and stomach (PubMed:14585816). {ECO:0000269|PubMed:
Sequence 
MMRSRSKSPRRPSPTARGANCDVELLKTTTRDREELKCMLEKYERHLAEIQGNVKVLKSE
RDKIFLLYEQAQEEITRLRREMMKSCKSPKSTTAHAILRRVETERDVAFTDLRRMTTERD
SLRERLKIAQETAFNEKAHLEQRIEELECTVHNLDDERMEQMSNMTLMKETISTVEKEMK
SLARKAMDTESELGRQKAENNSLRLLYENTEKDLSDTQRHLAKKKYELQLTQEKIMCLDE
KIDNFTRQNIAQREEISILGGTLNDLAKEKECLQACLDKKSENIASLGESLAMKEKTISG
MKNIIAEMEQASRQCTEALIVCEQDVSRMRRQLDETNDELAQIARERDILAHDNDNLQEQ
FAKAKQENQALSKKLNDTHNELNDIKQKVQDTNLEVNKLKNILKSEESENRQMMEQLRKA
NEDAENWENKARQSEADNNTLKLELITAEAEGNRLKEKVDSLNREVEQHLNAERSYKSQI
STLHKSVVKMEEELQKVQFEKVSALADLSSTRELCIKLDSSKELLNRQLVAKDQEIEMRE
NELDSAHSEIELLRSQMANERISMQNLEALLVANRDKEYQSQIALQEKESEIQLLKEHLC
LAENKMAIQSRDVAQFRNVVTQLEADLDITKRQLGTERFERERAVQELRRQNYSSNAYHM
SSTMKPNTKCHSPERAHHRSPDRGLDRSLEENLCYRDF
Sequence length 698
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure 26 Pathogenic rs1553482689 RCV000626480
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
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
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TSGA10-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (47)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acephalic spermatozoa Acephalic spermatozoa BEFREE 28905369
★★★★★
★☆☆☆☆
Found in Text Mining only
Acephalic spermatozoa Acephalic spermatozoa HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16406020
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 16406020
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 21198756
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune polyendocrinopathy syndrome type 1 Autoimmune polyendocrine syndrome type 1 Pubtator 21198756 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune polyendocrinopathy syndrome, type 1 Autoimmune Polyendocrinopathy BEFREE 21198756
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm LHGDN 15107545
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31310599
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 17920210
★★★★★
★☆☆☆☆
Found in Text Mining only