Gene Gene information from NCBI Gene database.
Entrez ID 9920
Gene name Kelch repeat and BTB domain containing 11
Gene symbol KBTBD11
Synonyms (NCBI Gene)
KLHDC7C
Chromosome 8
Chromosome location 8p23.3
miRNA miRNA information provided by mirtarbase database.
208
miRTarBase ID miRNA Experiments Reference
MIRT016377 hsa-miR-193b-3p Microarray 20304954
MIRT024631 hsa-miR-215-5p Microarray 19074876
MIRT026418 hsa-miR-192-5p Microarray 19074876
MIRT714300 hsa-miR-128-3p HITS-CLIP 19536157
MIRT714299 hsa-miR-216a-3p HITS-CLIP 19536157
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618794 29104 ENSG00000176595
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94819
Protein name Kelch repeat and BTB domain-containing protein 11 (Chronic myelogenous leukemia-associated protein) (Kelch domain-containing protein 7B)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 138 231 BTB/POZ domain Domain
PF01344 Kelch_1 348 399 Kelch motif Repeat
PF01344 Kelch_1 401 442 Kelch motif Repeat
Sequence
MEHAVAPCVLYPGTEPGAAGESESEGAASPAQTPCSLGASLCFSSGEESPPQSLASAAEG
AATSPPSSGGPRVVERQWEAGSAGAASPEELASPEERACPEEPAAPSPEPRVWLEDPASP
EEPGEPAPVPPGFGAVYGEPDLVLEVSGRRLRAHKAVLAARSDYFRARASRDVLRVQGVS
LTALRLLLADAYSGRMAGVRPDNVAEVVAGARRLQLPGAAQRATDAVGPQL
SLANCYEVL
SAAKRQRLNELRDAAYCFMSDHYLEVLREPAVFGRLSGAERDLLLRRRLRAGRAHLLAAA
LGPAGERAGSRPQSPSGDADARGDAAVYCFHAAAGEWRELTRLPEGAPARGCGLCVLYNY
LFVAGGVAPAGPDGRARPSDQVFCYNPATDSWSAVRPLR
QARSQLRLLALDGHLYAVGGE
CLLSVERYDPRADRWAPVAPLP
RGAFAVAHEATTCHGEIYVSGGSLFYRLLKYDPRRDEW
QECPCSSSRERSADMVALDGFIYRFDLSGSRGEAQAAGPSGVSVSRYHCLAKQWSPCVAP
LRLPGGPTGLQPFRCAALDGAIYCVSRAGTWRFQPAREGEAGGDAGQGGGFEALGAPLDV
RGVLIPFALSLPEKPPRGEQGAP
Sequence length 623
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA 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
Breast Carcinoma Breast Carcinoma BEFREE 31452764
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 29267898 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29267898
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29267898 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma CTD_human_DG 28284560
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 31452764
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 31452764
★☆☆☆☆
Found in Text Mining only
nervous system disorder Nervous System Disorder BEFREE 27153397
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 30582777
★★☆☆☆
Found in Text Mining + Unknown/Other Associations