Gene Gene information from NCBI Gene database.
Entrez ID 22837
Gene name Cordon-bleu WH2 repeat protein like 1
Gene symbol COBLL1
Synonyms (NCBI Gene)
COBLR1
Chromosome 2
Chromosome location 2q24.3
miRNA miRNA information provided by mirtarbase database.
150
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610318 23571 ENSG00000082438
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
CLEFT PALATE WITH CLEFT LIP Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS 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
Autism Spectrum Disorder Autism Pubtator 30071822 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 30071822
★☆☆☆☆
Found in Text Mining only
Blast Crisis Blast crisis Pubtator 35352878 Associate
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 28232743
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36068491 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35718636 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Lip Cleft lip Pubtator 36493769 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 36493769 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 36313769 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 23160641 Associate
★☆☆☆☆
Found in Text Mining only