CEP85L (centrosomal protein 85L)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
387119
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 85L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP85L
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf204, LIS10, NY-BR-15, bA57K17.2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618865 21638 ENSG00000111860
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein 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
Lissencephaly Lissencephaly 10, Posterior Predominant Lissencephaly rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763 N/A
Show/Hide Unknown Diseases (5)
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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Dyslexia Dyslexia N/A N/A GWAS
Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease 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