Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23059
Gene name Gene Name - the full gene name approved by the HGNC.
Clusterin associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLUAP1
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP22, FAP22, IFT38
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs751218423 C>T Uncertain-significance, pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs768663992 T>G Likely-pathogenic Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs769705065 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019263 hsa-miR-148b-3p Microarray 17612493
MIRT020563 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT021596 hsa-miR-142-3p Microarray 17612493
MIRT025089 hsa-miR-181a-5p Microarray 17612493
MIRT046308 hsa-miR-23b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure IEA
GO:0001947 Process Heart looping IEA
GO:0005515 Function Protein binding IPI 16189514, 25416956, 26389662, 28514442, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616787 19009 ENSG00000103351
Protein
UniProt ID Q96AJ1
Protein name Clusterin-associated protein 1 (Qilin)
Protein function Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10234 Cluap1 14 283 Clusterin-associated protein-1 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, thyroid and trachea and to a lower extent in spinal cord and adrenal gland. Highly expressed in colon cancer and osteosarcoma cell lines. {ECO:0000269|PubMed:15480429, ECO:0000269|PubMed:17203229}.
Sequence
Sequence length 413
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Intraflagellar transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebellar vermis agenesis familial aplasia of the vermis rs768663992 N/A
Leber Congenital Amaurosis leber congenital amaurosis rs751218423 N/A
Toriello-Lacassie-Droste Syndrome toriello-lacassie-droste syndrome rs751218423 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 26949549
COVID 19 Associate 33536081
Immotile cilia syndrome due to excessively long cilia Associate 33536081