CFAP97D1 (CFAP97 domain containing 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 284067
Gene name CFAP97 domain containing 1
Gene symbol CFAP97D1
Synonyms (NCBI Gene)
C17orf105
Chromosome 17
Chromosome location 17q21.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0007288 Process Sperm axoneme assembly IBA
GO:0007288 Process Sperm axoneme assembly IEA
GO:0007288 Process Sperm axoneme assembly ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619866 37241 ENSG00000231256
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B2RV13
Protein name Sperm axonemal maintenance protein CFAP97D1 (CFAP97 domain-containing protein 1)
Protein function Required for male fertility through its role in axonemal doublet stabilization which is essential for sperm motility and fertilization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13879 KIAA1430 35 → 130 KIAA1430 homologue Family
Tissue specificity TISSUE SPECIFICITY: Expressed exclusively in testis. {ECO:0000269|PubMed:32785227}.
Sequence 
MNNSLDYLAYPVIVSNHRQSTTFRKKLDFGHYVSHKNRIQIAKPTVDTKPPVAHTNHILK
LSKLQGEQKKINKIEYENKQLCQKIANAHRGPAKVDCWNEYFSKSLNRETRNRELVRITM
ENQGILKRLVDRKPHYDRRASEIDWQNSRRYIRNTTRYLLSQNE
Sequence length 164
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene 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 Unknown Diseases (1)
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
FAMILIAL HYPERLIPIDEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations