Gene Gene information from NCBI Gene database.
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
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
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.
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.
MIM HGNC e!Ensembl
611423 29086 ENSG00000174799
Protein Protein information from UniProt database.
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.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CEP135-related disorder Pathogenic; Likely pathogenic rs200221082, rs1014920648, rs1184861455 RCV004753712
RCV003414576
RCV003414200
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma Likely pathogenic rs1236457610 RCV005909233
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Auditory neuropathy spectrum disorder Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Disgenet, GenCC, Orphanet
Disgenet, GenCC, Orphanet
Disgenet, GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Primary Microcephaly Microcephaly BEFREE 22521416
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly Primary microcephaly Pubtator 22521416, 32677750 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly Microcephaly ORPHANET_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly Microcephaly Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 30811267
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30811267 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25117815 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 30531682
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic retinopathy Pubtator 22427569 Associate
★☆☆☆☆
Found in Text Mining only