IFTAP (intraflagellar transport associated protein)

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Gene Gene information from NCBI Gene database.
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Entrez ID 119710
Gene name Intraflagellar transport associated protein
Gene symbol IFTAP
Synonyms (NCBI Gene)
C11orf74HEPISNWC
Chromosome 11
Chromosome location 11p12
Summary This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. Ther
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18433331, 30476139
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IEA
GO:0007283 Process Spermatogenesis IBA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
619270 25142 ENSG00000166352
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.
Q86VG3
Protein name Intraflagellar transport-associated protein (Protein HEPIS)
Protein function Seems to play a role in ciliary BBSome localization, maybe through interaction with IFT-A complex.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17722 DUF5567 96 → 210 Family of unknown function (DUF5567) Family
PF17722 DUF5567 1 → 98 Family of unknown function (DUF5567) Family
Sequence 
MSAHMSGLEIMDEDQLIKDVLDKFLNCHEQTYDEEFLNTFTHLSQEDHVSKRGVFGTDSS
ENIFTSAKVTHKNEADDYHLRNKTIFLRTSSQCLEEQVDNFLDLEDLDMDEEIKPQMSED
LLLLPGEVEQDVSTSIPSCIPFVAQPPTCEVKPKPSVKRMDKQTEEILGDEVQLFSLDEE
FDYDNVMLTSKFSPAEIENIKELCKQQKRKDTSPDLEKSCD
Sequence length 221
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 35959094
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog 39046104
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY — GWAS catalog 29495422
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA — GWAS catalog 39024449
★★★★★
★★☆☆☆
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
Non-alcoholic Fatty Liver Disease Non-Alcoholic Fatty Liver Disease BEFREE 30942551
★★★★★
★☆☆☆☆
Found in Text Mining only
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DCLRE1C 2 shared diseasesOmenn syndrome, Severe combined immunodeficiency 2 shared evidence sourcesDisgenet (Omenn syndrome), Disgenet (Severe combined immunodeficiency) Related via 2 shared diseases including Omenn syndrome, Severe combined immunodeficiency — evidence mostly Disgenet. IL2RG 2 shared diseasesOmenn syndrome, Severe combined immunodeficiency 2 shared evidence sourcesDisgenet (Omenn syndrome), Disgenet (Severe combined immunodeficiency) Related via 2 shared diseases including Omenn syndrome, Severe combined immunodeficiency — evidence mostly Disgenet. ADA 2 shared diseasesOmenn syndrome, Severe combined immunodeficiency 2 shared evidence sourcesDisgenet (Omenn syndrome), Disgenet (Severe combined immunodeficiency) Related via 2 shared diseases including Omenn syndrome, Severe combined immunodeficiency — evidence mostly Disgenet. RAG2 2 shared diseasesOmenn syndrome, Severe combined immunodeficiency 2 shared evidence sourcesDisgenet (Omenn syndrome), Disgenet (Severe combined immunodeficiency) Related via 2 shared diseases including Omenn syndrome, Severe combined immunodeficiency — evidence mostly Disgenet. LIG4 2 shared diseasesOmenn syndrome, Severe combined immunodeficiency 2 shared evidence sourcesDisgenet (Omenn syndrome), Disgenet (Severe combined immunodeficiency) Related via 2 shared diseases including Omenn syndrome, Severe combined immunodeficiency — evidence mostly Disgenet.
Common variable immunodeficiency Linked via 2 of 5 related genesDCLRE1C, RAG2 Schizophrenia Linked via 2 of 5 related genesIL2RG, LIG4 Autism Linked via 2 of 5 related genesADA, LIG4 Ehlers-danlos syndrome Linked via 1 of 5 related genesDCLRE1C Migraine Linked via 1 of 5 related genesDCLRE1C