Gene Gene information from NCBI Gene database.
Entrez ID 55722
Gene name Centrosomal protein 72
Gene symbol CEP72
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5p15.33
Summary The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by
miRNA miRNA information provided by mirtarbase database.
250
miRTarBase ID miRNA Experiments Reference
MIRT005189 hsa-miR-30a-5p pSILAC 18668040
MIRT005189 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT613558 hsa-miR-3166 HITS-CLIP 23824327
MIRT613558 hsa-miR-3166 HITS-CLIP 23824327
MIRT659575 hsa-miR-585-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19447967, 19536135, 21078624, 21653829, 25416956, 26297806, 26638075, 26871637, 27107012, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 19536135, 21399614
GO:0005813 Component Centrosome IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616475 25547 ENSG00000112877
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P209
Protein name Centrosomal protein of 72 kDa (Cep72)
Protein function Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14580 LRR_9 39 163 Repeat
Sequence
MARAGPRLVLSEEAVRAKSGLGPHRDLAELQSLSIPGTYQEKITHLGHSLMSLTGLKSLD
LSRNSLVSLEGIQYLTALESLNLYYNCISSLAEVFRLHALTELVDVDFRLNPVVKVEPDY
RLFVVHLLPKLQQLDDRPVRASERKASRLHFASEDSLDSKESV
PASLKEGRPHHPRAKCT
EALAKQSLVMDADDEAVLNLIAECEWDLGRPPGSTSFSQKGREADSRGSQESRHLLSPQL
VQYQCGDSGKQGRETRRSSCRGCCLEKMPWSQLCGELPPLYGAEPEASRAPRPHTYFTPH
PDSMDTEDSASSQKLDLSGEMVPGPLPAPGKCRKRRMPVGRFQTFSDQEGLGCPERTHGS
SVPKESLSRQDSSESRNGRTLSQPEASETEEQRSRGVTDTREPSPGSHSALPGKKTALQA
ALLETLLDLVDRSWGGCRSLHSNEAFLAQARHILSSVEEFTAAQDSSAMVGEDVGSLALE
SKSLQSRLAEQQQQHAREMSEVTAELHHTHKELDDLRQHLDKSLEENSRLKSLLLSMKKE
VKSADTAATLNLQIAGLQTSVKRLCGEIVELKQHLEHYDKIQELTQMLQESHSSLVSTNE
HLLQELSQVRAQHRAEVEQMHWSYQELKKTMALFPHSSASHGGCQAC
Sequence length 647
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.).
3
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)
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
BARRETT'S ESOPHAGUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26618658, 27618250, 30119132, 30832275
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer GWASCAT_DG 27527254
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29517860
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26618658, 30119132, 30832275
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 20090771 Associate
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus GWASCAT_DG 27527254
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 25710658, 26618658, 29999516, 30119132, 30832275
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 22767577
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 27575496 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26300001
★☆☆☆☆
Found in Text Mining only