CATSPERQ (catsper channel auxiliary subunit theta)

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Gene Gene information from NCBI Gene database.
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Entrez ID 340393
Gene name Catsper channel auxiliary subunit theta
Gene symbol CATSPERQ
Synonyms (NCBI Gene)
C8ORFK29TMEM249
Chromosome 8
Chromosome location 8q24.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
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GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0005929 Component Cilium IEA
GO:0016020 Component Membrane IEA
GO:0031514 Component Motile cilium IEA
GO:0036128 Component CatSper complex ISS
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.
Q2WGJ8
Protein name Cation channel sperm-associated auxiliary subunit TMEM249 (Transmembrane protein 249)
Protein function Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15158 DUF4579 26 → 209 Domain of unknown function (DUF4579) Family
Sequence 
MPKGRAGSLPTTSIGWRFQLWFLGLTCPERHLARRLKNNSFYPFVQQEPNVFVLEYYLDT
LWKGMLLFIISVVLVSFSSLREVQKQETWVFLVYGVGVGLWLVISSLPRRRLVLNHTRGV
YHFSIQGRTVCQGPLHLVYVRLALSSDAHGRCFFHLVLGGHRLEPLVLVQLSEHYEQMEY
LGRYIARKLNINYFDYLATSYRHVVRHWPPPGAGTVMGKSPMGHKPSSSQSSLEV
Sequence length 235
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for CATSPERQ.

No additional diseases found yet through genes similar to CATSPERQ.