CEP135 (centrosomal protein 135)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9662
Gene name Centrosomal protein 135
Gene symbol CEP135
Synonyms (NCBI Gene)
CEP4KIAA0635MCPH8
Chromosome 4
Chromosome location 4q12
Summary 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.
10
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.
752
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611423 29086 ENSG00000174799
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CEP135-related disorder Pathogenic; Likely pathogenic rs200221082, rs1014920648, rs1184861455 RCV004753712
RCV003414576
RCV003414200
Microcephaly 8, primary, autosomal recessive Pathogenic; Likely pathogenic rs1730824213, rs1560425301, rs751437333, rs2475390980, rs2475333975, rs146076380, rs202125581, rs202247811, rs1085307120, rs1553895368, rs752140135, rs200676378, rs1236457610, rs186530606, rs777869134 RCV001580589
RCV001780754
RCV002052145
RCV002283832
RCV003141320
RCV005412576
RCV005220769
RCV000024354
RCV000477712
RCV000497671
RCV000599697
RCV001255738
RCV001255771
RCV001261593
RCV001580590
Sarcoma Likely pathogenic rs1236457610 RCV005909233
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Auditory neuropathy spectrum disorder Conflicting classifications of pathogenicity rs1577878190 RCV003984850
Cervical cancer Benign rs35814086 RCV005918668
Familial cancer of breast Uncertain significance rs140039256 RCV005907587
Gastric cancer Benign rs79684519 RCV005921596
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease 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