CEP104 (centrosomal protein 104)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9731
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 104
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP104
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP256, GlyBP, JBTS25, KIAA0562, MRT77, ROC22
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with h
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs372048855 A>C Pathogenic Coding sequence variant, stop gained
rs374574638 G>A Pathogenic Coding sequence variant, stop gained
rs776094913 GAGTAACGGG>- Pathogenic Coding sequence variant, frameshift variant
rs869025276 A>G Pathogenic Splice donor variant
rs869025277 ->A Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(780)
miRTarBase ID miRNA Experiments Reference
MIRT046262 hsa-miR-23b-3p CLASH 23622248
MIRT036030 hsa-miR-1301-3p CLASH 23622248
MIRT504031 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT504030 hsa-miR-511-3p HITS-CLIP 21572407
MIRT504028 hsa-miR-223-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 26420826, 32453716, 36606424
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IDA 21399614
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616690 24866 ENSG00000116198
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O60308
Protein name Centrosomal protein of 104 kDa (Cep104)
Protein function Required for ciliogenesis and for structural integrity at the ciliary tip.
PDB 5LPH , 5LPI
Family and domains
Sequence 
MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQ
LLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDA
VGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSED
PALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAI
ADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRR
PFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVD
PLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPL
TEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRA
SVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDS
SARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGT
GSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNIL
YKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKE
SDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLML
TRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEK
LANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLG
SKAGSKIPTPKGGLSKSSSRTYAKR
Sequence length 925
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 SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Joubert Syndrome joubert syndrome 25 rs869025276, rs869025277, rs374574638, rs869025278, rs1334483830, rs372048855, rs776094913, rs1484807480 N/A
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
Intellectual Developmental Disorder Intellectual developmental disorder, autosomal recessive 77 N/A N/A ClinVar
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 26477546, 28017521, 31625690, 32820051
Ciliopathies Associate 28017521, 32820051, 34196201
Cluster Headache Associate 34196201
Intellectual Disability Associate 34196201
Lung Neoplasms Associate 30458782
Neoplasms Associate 32820051
Psoriasis Associate 34488406