Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22837
Gene name Gene Name - the full gene name approved by the HGNC.
Cordon-bleu WH2 repeat protein like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COBLL1
Synonyms (NCBI Gene) Gene synonyms aliases
COBLR1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q24.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024539 hsa-miR-215-5p Microarray 19074876
MIRT026290 hsa-miR-192-5p Microarray 19074876
MIRT030747 hsa-miR-21-5p Microarray 18591254
MIRT717215 hsa-miR-4694-3p HITS-CLIP 19536157
MIRT717214 hsa-miR-224-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0003785 Function Actin monomer binding IEA
GO:0005515 Function Protein binding IPI 20936779, 33961781
GO:0005938 Component Cell cortex IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610318 23571 ENSG00000082438
Protein
UniProt ID Q53SF7
Protein name Cordon-bleu protein-like 1
PDB 2DAJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09469 Cobl 136 227 Cordon-bleu ubiquitin-like domain Domain
Sequence
MDGRTPRPQDAPARRKPKAKAPLPPAETKYTDVSSAADSVESTAFIMEQKENMIDKDVEL
SVVLPGDIIKSTTVHGSKPMMDLLIFLCAQYHLNPSSYTIDLLSAEQNHIKFKPNTPIGM
LEVEKVILKPKMLDKKKPTPIIPEKTVRVVINFKKTQKTIVRVSPHASLQELAPIICSKC
EFDPLHTLLLKDYQSQEPLDLTKSLNDLGLRELYAMDVNRESCQISQ
NLDIMKEKENKGF
FSFFQRSKKKRDQTASAPATPLVNKHRPTFTRSNTISKPYISNTLPSDAPKKRRAPLPPM
PASQSVPQDLAHIQERPASCIVKSMSVDETDKSPCEAGRVRAGSLQLSSMSAGNSSLRRT
KRKAPSPPSKIPPHQSDENSRVTALQPVDGVPPDSASEANSPEELSSPAGISSDYSLEEI
DEKEELSEVPKVEAENISPKSQDIPFVSTDIINTLKNDPDSALGNGSGEFSQNSMEEKQE
TKSTDGQEPHSVVYDTSNGKKVVDSIRNLKSLGPNQENVVQNEIIVYPENTEDNMKNGVK
KTEINVEGVAKNNNIDMEVERPSNSEAHETDTAISYKENHLAASSVPDQKLNQPSAEKTK
DAAIQTTPSCNSFDGKHQDHNLSDSKVEECVQTSNNNISTQHSCLSSQDSVNTSREFRSQ
GTLIIHSEDPLTVKDPICAHGNDDLLPPVDRIDKNSTASYLKNYPLYRQDYNPKPKPSNE
ITREYIPKIGMTTYKIVPPKSLEISKDWQSETIEYKDDQDMHALGKKHTHENVKETAIQT
EDSAISESPEEPLPNLKPKPNLRTEHQVPSSVSSPDDAMVSPLKPAPKMTRDTGTAPFAP
NLEEINNILESKFKSRASNAQAKPSSFFLQMQKRVSGHYVTSAAAKSVHAAPNPAPKELT
NKEAERDMLPSPEQTLSPLSKMPHSVPQPLVEKTDDDVIGQAPAEASPPPIAPKPVTIPA
SQVSTQNLKTLKTFGAPRPYSSSGPSPFALAVVKRSQSFSKERTESPSASALVQPPANTE
EGKTHSVNKFVDIPQLGVSDKENNSAHNEQNSQIPTPTDGPSFTVMRQSSLTFQSSDPEQ
MRQSLLTAIRSGEAAAKLKRVTIPSNTISVNGRSRLSHSMSPDAQDGH
Sequence length 1128
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Diabetes Type ii diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes, Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Circulating leptin levels or type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes (adjusted for BMI), Body mass index and type 2 diabetes (pairwise), Body fat percentage and type 2 diabetes (pairwise) N/A N/A GWAS
Gout Gout N/A N/A GWAS
Hyperlipidemia Familial combined hyperlipidemia defined by Brunzell criteria N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 30071822
Blast Crisis Associate 35352878
Carcinogenesis Associate 36068491
Carcinoma Renal Cell Associate 35718636
Cleft Lip Associate 36493769
Cleft Palate Inhibit 36493769
Death Associate 19401544
Diabetes Gestational Associate 36313769
Diabetes Mellitus Type 2 Associate 23160641
Insulin Resistance Associate 23463496, 30089489