CEP295NL (CEP295 N-terminal like)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100653515
Gene name Gene Name - the full gene name approved by the HGNC.
CEP295 N-terminal like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP295NL
Synonyms (NCBI Gene) Gene synonyms aliases
DDC8, KIAA1731NL
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0005813 Component Centrosome IBA
GO:0005814 Component Centriole IBA
GO:0005829 Component Cytosol IBA
GO:0005929 Component Cilium IEA
GO:0042995 Component Cell projection IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96MC4
Protein name CEP295 N-terminal-like protein (KIAA1731 N-terminal like protein)
Family and domains
Sequence 
MCSGWSSSVIWRHTQFAVERCGFCGSSGPGAPLEPSTLGSKHLPWEAVSAGFADRNRNMD
GAMWLSLCPDNEDLLWRKKHKLLQARGKGDLALQRRADAKLWKNYQLQRLAEELRRGYQE
AQHLHVGGLDRLQSARLLGWGGGRARENEPDSQGPIQRRSARPPRAKEKHRAALSEERSC
REELGQQHPRHSRPRKTAASPEKPQTTKATGRMNSHLAPPEKRKGRPEPSTKSGGGRCAI
HPRRSKGADLERSNPLVAAVGEIGLVEEKEKGTARAGRRQLGKGAVCFVPALTSRSQGQS
LEGKLRDLGQLWPADSSCRREAVSPASQCTLREKNKWQKELELAFEELFNINRKLKKHLC
LYLALKPRMDQRPGEGHAFSEMQECGAGTPRGKKMADPEMLPAGEPRSPAEEEAQQAASK
TDLKTFMGKAQNQKYQGTVKPTFRNGSQTLSPEAGIFINKEDSLLYSTESGQETPKLGTL
AEGSLQLHLQDQADRVGSTASRQRQKAEMEQRRQKQLESLEQMEHPDMSLEIHYKAELEK
ERREQRRARLAHLKSSSTRAQERERGSELSTTSPSGTSLADDDRHSQMIRDQQQQILQQN
RLHKQFLEEARKCLREFQNIC
Sequence length 621
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
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
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS