TSGA10 (testis specific 10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80705
Gene name Gene Name - the full gene name approved by the HGNC.
Testis specific 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSGA10
Synonyms (NCBI Gene) Gene synonyms aliases
CEP4L, CT79, SPGF26
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607166 14927 ENSG00000135951
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
spermatogenic failure Spermatogenic failure 26 rs1553482689 N/A
Show/Hide Unknown Diseases (1)
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
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune polyendocrinopathy syndrome type 1 Associate 21198756
Carcinoma Hepatocellular Associate 15107545
Carcinoma Transitional Cell Associate 29058301
Citrullinemia Associate 34409526
Colorectal Neoplasms Associate 15107545
Infertility Male Associate 34409526
Lupus Erythematosus Systemic Associate 21198756
Melanoma Associate 15107545
Neoplasm Metastasis Stimulate 31310599
Neoplasms Associate 15107545