CEP135 (centrosomal protein 135)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9662
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 135
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP135
Synonyms (NCBI Gene) Gene synonyms aliases
CEP4, KIAA0635, MCPH8
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs59759676 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs76659072 T>A,G Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs146076380 C>A,T Benign, conflicting-interpretations-of-pathogenicity Missense variant, stop gained, coding sequence variant
rs202247811 C>- Pathogenic Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs752140135 C>T Pathogenic Genic upstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(752)
miRTarBase ID miRNA Experiments Reference
MIRT612077 hsa-miR-8485 HITS-CLIP 19536157
MIRT612074 hsa-miR-603 HITS-CLIP 19536157
MIRT612073 hsa-miR-216b-3p HITS-CLIP 19536157
MIRT612072 hsa-miR-6837-3p HITS-CLIP 19536157
MIRT704732 hsa-miR-6507-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18851962, 20531387, 23511974, 24997597, 26638075, 27107012, 31413325, 33961781, 35709258
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 21399614, 23509069
GO:0005814 Component Centriole IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611423 29086 ENSG00000174799
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q66GS9
Protein name Centrosomal protein of 135 kDa (Cep135) (Centrosomal protein 4)
Protein function Centrosomal microtubule-binding protein involved in centriole biogenesis (PubMed:27477386). Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM
PDB 5FCN , 5NG4
Family and domains
Sequence 
MTTAVERKYINIRKRLDQLGYRQTLTVECLPLVEKLFSDLVHTTESLRQSKLSAVKAEKE
SANFDFVLEPYKLENARLSRENNELYLELMKLREHSDQHVKELKTSLKKCARETADLKFL
NNQYAHKLKLLEKESKAKNERIQQLQEKNLHAVVQTPGGKKRSIAFRRQRMQIDEPVPPS
EVSSYPVPQPDDPYIADLLQVADNRIQELQQEVHQLQEKLAMMESGVRDYSKQIELRERE
IERLSVALDGGRSPDVLSLESRNKTNEKLIAHLNIQVDFLQQANKDLEKRIRELMETKET
VTSEVVNLSNKNEKLCQELTEIDQLAQQLERHKEEVLETADKELGEAKKEIKRKLSEMQD
LEETMAKLQLELNLCQKEKERLSDELLVKSDLETVVHQLEQEKQRLSKKVESFAVTERQL
TLEVERMRLEHGIKRRDRSPSRLDTFLKGIEEERDYYKKELERLQHIIQRRSCSTSYSAR
EKSSIFRTPEKGDYNSEIHQITRERDELQRMLERFEKYMEDIQSNVKLLTAERDKLSVLY
NEAQEELSALRKESTQTTAPHNIVSLMEKEKELALSDLRRIMAEKEALREKLEHIEEVSL
FGKSELEKTIEHLTCVNHQLESEKYELKSKVLIMKETIESLENKLKVQAQKFSHVAGDSS
HQKTEVNSLRIVNEQLQRSVDDYQHRLSIKRGELESAQAQIKILEEKIDELNLKMTSQDE
EAHVMKKTIGVIDKEKDFLQETVDEKTEKIANLQENLANKEKAVAQMKIMISECESSVNQ
LKETLVNRDREINSLRRQLDAAHKELDEVGRSREIAFKENRRLQDDLATMARENQEISLE
LEAAVQEKEEMKSRVHKYITEVSRWESLMAAKEKENQDLLDRFQMLHNRAEDWEVKAHQA
EGESSSVRLELLSIDTERRHLRERVELLEKEIQEHINAHHAYESQISSMAKAMSRLEEEL
RHQEDEKATVLNDLSSLRELCIKLDSGKDIMTQQLNSKNLEFERVVVELENVKSESDLLK
KQLSNERHTVKNLESLLATNRDKEFHSHLTSHEKDTEIQLLKEKLTLSESKLTSQSRENT
MLRAKVAQLQTDYDALKRQISTERYERERAIQEMRRHGLATPPLSSTLRSPSHSPEHRNV
Sequence length 1140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2
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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 Pathways 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
Microcephaly microcephaly 8, primary, autosomal recessive rs1553895368, rs752140135, rs202247811, rs1085307120 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
Auditory neuropathy auditory neuropathy spectrum disorder N/A N/A ClinVar
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 36705386
Autosomal Recessive Primary Microcephaly Associate 22521416, 32677750
Breast Neoplasms Associate 30811267
Colorectal Neoplasms Associate 25117815
Diabetic Retinopathy Associate 22427569
DNA Virus Infections Inhibit 36435816
Huntington Disease Associate 33049985
Microcephaly Associate 22521416, 32677750, 35058575
Nasopharyngeal Carcinoma Associate 36820950
Nasopharyngeal Neoplasms Associate 36820950