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Gene id 9920
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol KBTBD11   Gene   UCSC   Ensembl
Aliases KLHDC7C
Gene name kelch repeat and BTB domain containing 11
Alternate names kelch repeat and BTB domain-containing protein 11, chronic myelogenous leukemia-associated protein, kelch domain-containing protein 7B, kelch repeat and BTB (POZ) domain containing 11,
Gene location 8p23.3 (1970717: 2006942)     Exons: 6     NC_000008.11
OMIM 618794

Protein Summary
Protein general information O94819  

Name: Kelch repeat and BTB domain containing protein 11 (Chronic myelogenous leukemia associated protein) (Kelch domain containing protein 7B)

Length: 623  Mass: 65720

Sequence MEHAVAPCVLYPGTEPGAAGESESEGAASPAQTPCSLGASLCFSSGEESPPQSLASAAEGAATSPPSSGGPRVVE
RQWEAGSAGAASPEELASPEERACPEEPAAPSPEPRVWLEDPASPEEPGEPAPVPPGFGAVYGEPDLVLEVSGRR
LRAHKAVLAARSDYFRARASRDVLRVQGVSLTALRLLLADAYSGRMAGVRPDNVAEVVAGARRLQLPGAAQRATD
AVGPQLSLANCYEVLSAAKRQRLNELRDAAYCFMSDHYLEVLREPAVFGRLSGAERDLLLRRRLRAGRAHLLAAA
LGPAGERAGSRPQSPSGDADARGDAAVYCFHAAAGEWRELTRLPEGAPARGCGLCVLYNYLFVAGGVAPAGPDGR
ARPSDQVFCYNPATDSWSAVRPLRQARSQLRLLALDGHLYAVGGECLLSVERYDPRADRWAPVAPLPRGAFAVAH
EATTCHGEIYVSGGSLFYRLLKYDPRRDEWQECPCSSSRERSADMVALDGFIYRFDLSGSRGEAQAAGPSGVSVS
RYHCLAKQWSPCVAPLRLPGGPTGLQPFRCAALDGAIYCVSRAGTWRFQPAREGEAGGDAGQGGGFEALGAPLDV
RGVLIPFALSLPEKPPRGEQGAP
Structural information
Protein Domains
 (140..19-)
(/note="BTB-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
Interpro:  IPR000210  IPR015915  IPR006652  IPR011333  
Prosite:   PS50097
STRING:   ENSP00000321544
Other Databases GeneCards:  KBTBD11  Malacards:  KBTBD11

Gene ontology

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GO accessionTerm nameEvidence codeGo category

Diseases

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Associated diseases References
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract