CEP85L (centrosomal protein 85L)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 387119
Gene name Centrosomal protein 85L
Gene symbol CEP85L
Synonyms (NCBI Gene)
C6orf204LIS10NY-BR-15bA57K17.2
Chromosome 6
Chromosome location 6q22.31
Summary The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
miRNA miRNA information provided by mirtarbase database.
27
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (27)
miRTarBase ID miRNA Experiments Reference
MIRT018852 hsa-miR-335-5p Microarray 18185580
MIRT659574 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT659573 hsa-miR-4668-3p HITS-CLIP 23824327
MIRT659571 hsa-miR-3124-3p HITS-CLIP 23824327
MIRT659574 hsa-miR-548c-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0000242 Component Pericentriolar material IDA 32097630
GO:0001764 Process Neuron migration IMP 32097630
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618865 21638 ENSG00000111860
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SZL2
Protein name Centrosomal protein of 85 kDa-like (Serologically defined breast cancer antigen NY-BR-15)
Protein function Plays an essential role in neuronal cell migration.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 4 are expressed in spleen, lymph, thymus, tonsil and peripheral blood leukocytes, with isoform 1 expressed at higher levels. Isoform 4 is detected in K-562 leukemia cells and in the blood of precursor T lymphoblas
Sequence 
MWGRFLAPEASGRDSPGGARSFPAGPDYSSAWLPANESLWQATTVPSNHRNNHIRRHSIA
SDSGDTGIGTSCSDSVEDHSTSSGTLSFKPSQSLITLPTAHVMPSNSSASISKLRESLTP
DGSKWSTSLMQTLGNHSRGEQDSSLDMKDFRPLRKWSSLSKLTAPDNCGQGGTVCREESR
NGLEKIGKAKALTSQLRTIGPSCLHDSMEMLRLEDKEINKKRSSTLDCKYKFESCSKEDF
RASSSTLRRQPVDMTYSALPESKPIMTSSEAFEPPKYLMLGQQAVGGVPIQPSVRTQMWL
TEQLRTNPLEGRNTEDSYSLAPWQQQQIEDFRQGSETPMQVLTGSSRQSYSPGYQDFSKW
ESMLKIKEGLLRQKEIVIDRQKQQITHLHERIRDNELRAQHAMLGHYVNCEDSYVASLQP
QYENTSLQTPFSEESVSHSQQGEFEQKLASTEKEVLQLNEFLKQRLSLFSEEKKKLEEKL
KTRDRYISSLKKKCQKESEQNKEKQRRIETLEKYLADLPTLDDVQSQSLQLQILEEKNKN
LQEALIDTEKKLEEIKKQCQDKETQLICQKKKEKELVTTVQSLQQKVERCLEDGIRLPML
DAKQLQNENDNLRQQNETASKIIDSQQDEIDRMILEIQSMQGKLSKEKLTTQKMMEELEK
KERNVQRLTKALLENQRQTDETCSLLDQGQEPDQSRQQTVLSKRPLFDLTVIDQLFKEMS
CCLFDLKALCSILNQRAQGKEPNLSLLLGIRSMNCSAEETENDHSTETLTKKLSDVCQLR
RDIDELRTTISDRYAQDMGDNCITQ
Sequence length 805
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
52
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lissencephaly Pathogenic; Likely pathogenic rs2115322443, rs2115322620 RCV001391279
RCV001449660
Lissencephaly 10 Likely pathogenic; Pathogenic rs767792503, rs2533741192, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763 RCV003887839
RCV003988910
RCV001093584
RCV001093585
RCV001093586
RCV001093587
RCV001093588
Neurodevelopmental disorder Pathogenic rs1774227158 RCV001374914
Posterior Predominant Lissencephaly Pathogenic; Likely pathogenic rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1774227158, rs1774228815, rs1774230502, rs1775537638 RCV001257933
RCV001257935
RCV001257956
RCV001257959
RCV001257960
RCV001257958
RCV001257957
RCV001257934
RCV001257932
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CEP85L-related disorder Benign; Uncertain significance; Likely benign rs187158499, rs774638980, rs2534125288, rs2533796248, rs145696727, rs747593968, rs1774578835, rs148635510 RCV003953974
RCV003420815
RCV003391438
RCV003416917
RCV003954197
RCV003896609
RCV003982378
RCV003957183
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 35064145
Band Heterotopia of Brain Associate 34440382
Classical Lissencephalies and Subcortical Band Heterotopias Associate 34440382
Cognition Disorders Associate 34440382
Epilepsy Associate 34440382
Glioblastoma Associate 34875133
Hemangiosarcoma Associate 23637631
Lissencephaly Associate 34440382
Neoplasms Associate 23637631, 28912153