Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
JBTS25, MRT77
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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 26420826
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IDA 21399614
GO:0005929 Component Cilium IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616690 24866 ENSG00000116198
Protein
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cerebellar vermis agenesis Familial aplasia of the vermis rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003
View all (121 more)
26477546
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Associations from Text Mining
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