STPG2 (sperm tail PG-rich repeat containing 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 285555
Gene name Sperm tail PG-rich repeat containing 2
Gene symbol STPG2
Synonyms (NCBI Gene)
C4orf37
Chromosome 4
Chromosome location 4q22.3-q23
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.
Q8N412
Protein name Sperm-tail PG-rich repeat-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07004 SHIPPO-rpt 157 → 206 Sperm-tail PG-rich repeat Repeat
PF07004 SHIPPO-rpt 62 → 99 Sperm-tail PG-rich repeat Repeat
Sequence 
MYDRAPRLLKLAEGGSTEAHVGPGSYQVPFLKQQATGSNAPFLSLTARESTFTIASSIEK
AVPGPGHYNVSEAQKISRSPTLTRSVDVPSIPSCGKSYGYHINDDGSIIKCFPPACDSTL
GPAYYKPQFDVSNATLKYKGIHFGNSSGRQELPKKSGPGPGQYDIVQKKTSYYENVNIKR
DQQQNYCSFIPRLYEIIVLQEKKKRFLPMKSITPAPGTYNEPRTALKSLKKTSGLKNIPF
GQSAVRFTQDIRTEEMPGPGFYNVLNNTIIASVRNICSKKQKKSAFGSSVPRTFFSVQKE
ACATPGPADYQEFWHSQGVGISDELPNLTNKYAAFLSRAKRTMKVPDMVIPAPGSYDVHK
SYEMSQVKHKYMPPRSLVAKRKHASFLSATPRCLEKVTDGPGPAAYNPVLRKSCPIPLFV
KASKRFEESKEITPGPATYEISQEKKKGNLIGEMAADIM
Sequence length 459
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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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.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
AORTIC STENOSIS — GWAS catalog 32141789
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION — GWAS catalog 32141789
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 40229280
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 40229280
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia Pubtator 37895049 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 37895049 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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SSC4D 2 shared diseasesAortic stenosis, Aortic valve disease 2 shared evidence sourcesGWAS catalog (Aortic stenosis), GWAS catalog (Aortic valve disease) Related via 2 shared diseases including Aortic stenosis, Aortic valve disease — evidence mostly GWAS catalog. ACTR2 2 shared diseasesAortic stenosis, Aortic valve disease 2 shared evidence sourcesGWAS catalog (Aortic stenosis), GWAS catalog (Aortic valve disease) Related via 2 shared diseases including Aortic stenosis, Aortic valve disease — evidence mostly GWAS catalog. DENND4C 2 shared diseasesAortic stenosis, Aortic valve disease 2 shared evidence sourcesGWAS catalog (Aortic stenosis), GWAS catalog (Aortic valve disease) Related via 2 shared diseases including Aortic stenosis, Aortic valve disease — evidence mostly GWAS catalog. FAM210A 2 shared diseasesAortic stenosis, Aortic valve disease 2 shared evidence sourcesGWAS catalog (Aortic stenosis), GWAS catalog (Aortic valve disease) Related via 2 shared diseases including Aortic stenosis, Aortic valve disease — evidence mostly GWAS catalog. KRR1 2 shared diseasesAortic stenosis, Aortic valve disease 2 shared evidence sourcesGWAS catalog (Aortic stenosis), GWAS catalog (Aortic valve disease) Related via 2 shared diseases including Aortic stenosis, Aortic valve disease — evidence mostly GWAS catalog.
Ankylosing spondylitis Linked via 1 of 5 related genesACTR2 Coronary artery disease Linked via 1 of 5 related genesACTR2 Intellectual developmental disorder Linked via 1 of 5 related genesACTR2 Lung cancer Linked via 1 of 5 related genesACTR2 Schizophrenia Linked via 1 of 5 related genesACTR2