CFAP276 (cilia and flagella associated protein 276)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 127003
Gene name Cilia and flagella associated protein 276
Gene symbol CFAP276
Synonyms (NCBI Gene)
C10orf194C1orf194
Chromosome 1
Chromosome location 1p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IDA 31199454
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IDA 31199454
GO:0005856 Component Cytoskeleton IEA
GO:0005879 Component Axonemal microtubule IDA 36191189
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
618682 32331 ENSG00000179902
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.
Q5T5A4
Protein name Cilia- and flagella-associated protein 276
Protein function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play an important role for the maintenance of myelin-axon integrity (By
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12494 DUF3695 29 → 127 Protein of unknown function (DUF3695) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in cerebrum, cerebellum, gastrocnemius muscle, spinal cord and lung tissues. {ECO:0000269|PubMed:31199454, ECO:0000269|PubMed:36191189}.
Sequence 
MPPTRDPFQQPTLDNDDSYLGELRASKKLPYKNPTHLAQQQEPWSRLNSTPTITSMRRDA
YYFDPEIPKDDLDFRLAALYNHHTGTFKNKSEILLNQKTTQDTYRTKIQFPGEFLTPPTP
PITFLANIRHWINPKKESIHSIQGSIVSPHTAATNGGYSRKKDGGFFST
Sequence length 169
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
CHARCOT-MARIE-TOOTH DISEASE — Disgenet, GenCC
Disgenet, GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic Ependymoma Anaplastic Ependymoma BEFREE 27401149
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 37083227 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 31199454
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ependymoma Ependymoma BEFREE 27401149
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 34580317 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Testicular Diseases Testicular disease Pubtator 37083227 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only