TSGA10 (testis specific 10)

Gene

• Entrez ID: 80705
• Gene name: Testis specific 10
• Gene symbol: TSGA10
• Synonyms (NCBI Gene): CEP4L, CT79, SPGF26
• Chromosome: 2
• Chromosome location: 2q11.2

SNPs

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

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
MIRT1458634	hsa-miR-4745-5p	CLIP-seq
MIRT1458635	hsa-miR-4756-3p	CLIP-seq
MIRT1458636	hsa-miR-4758-5p	CLIP-seq
MIRT2358458	hsa-miR-4330	CLIP-seq
MIRT2358459	hsa-miR-4772-3p	CLIP-seq
MIRT2651667	hsa-miR-297	CLIP-seq
MIRT2651668	hsa-miR-3155	CLIP-seq
MIRT2651669	hsa-miR-3155b	CLIP-seq
MIRT2651670	hsa-miR-323-3p	CLIP-seq
MIRT2651671	hsa-miR-3674	CLIP-seq
MIRT2651672	hsa-miR-3924	CLIP-seq
MIRT2651673	hsa-miR-4517	CLIP-seq
MIRT2651674	hsa-miR-484	CLIP-seq
MIRT2651675	hsa-miR-499-3p	CLIP-seq
MIRT2651676	hsa-miR-499a-3p	CLIP-seq
MIRT2651677	hsa-miR-567	CLIP-seq

Gene ontology (GO)

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
GO:0030031	Process	Cell projection assembly	IEA
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0035686	Component	Sperm fibrous sheath	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0097228	Component	Sperm principal piece	IEA

Other IDs

• MIM: 607166
• HGNC: 14927
• e!Ensembl: ENSG00000135951

Protein

• 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).
• 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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 26	Pathogenic	rs1553482689	RCV000626480	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
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
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Autoimmune polyendocrinopathy syndrome type 1	Associate	21198756	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	15107545	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Associate	29058301	★☆☆☆☆ Found in Text Mining only
Citrullinemia	Associate	34409526	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	15107545	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	34409526	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	21198756	★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	15107545	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	31310599	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	15107545	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	31310599	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Stimulate	15107545	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Stimulate	15107545	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	15107545, 31310599	★☆☆☆☆ Found in Text Mining only