• Gene id: 25948

Gene Summary

• Gene Symbol: KBTBD2   Gene   UCSC   Ensembl
• Aliases: BKLHD1
• Gene name: kelch repeat and BTB domain containing 2
• Alternate names: kelch repeat and BTB domain-containing protein 2, BTB and kelch domain containing 1, BTB and kelch domain-containing protein 1, kelch repeat and BTB (POZ) domain containing 2,
• Gene location: 7p14.3 (32892143: 32868171)     Exons: 1     NC_000007.14

Protein Summary

• Protein general information: Q8IY47  
  • Name: Kelch repeat and BTB domain containing protein 2 (BTB and kelch domain containing protein 1)
  • Length: 623  
  • Mass: 71331
• Sequence:

  MSTQDERQINTEYAVSLLEQLKLFYEQQLFTDIVLIVEGTEFPCHKMVLATCSSYFRAMFMSGLSESKQTHVHLR
  NVDAATLQIIITYAYTGNLAMNDSTVEQLYETACFLQVEDVLQRCREYLIKKINAENCVRLLSFADLFSCEELKQ
  SAKRMVEHKFTAVYHQDAFMQLSHDLLIDILSSDNLNVEKEETVREAAMLWLEYNTESRSQYLSSVLSQIRIDAL
  SEVTQRAWFQGLPPNDKSVVVQGLYKSMPKFFKPRLGMTKEEMMIFIEASSENPCSLYSSVCYSPQAEKVYKLCS
  PPADLHKVGTVVTPDNDIYIAGGQVPLKNTKTNHSKTSKLQTAFRTVNCFYWFDAQQNTWFPKTPMLFVRIKPSL
  VCCEGYIYAIGGDSVGGELNRRTVERYDTEKDEWTMVSPLPCAWQWSAAVVVHDCIYVMTLNLMYCYFPRSDSWV
  EMAMRQTSRSFASAAAFGDKIFYIGGLHIATNSGIRLPSGTVDGSSVTVEIYDVNKNEWKMAANIPAKRYSDPCV
  RAVVISNSLCVFMRETHLNERAKYVTYQYDLELDRWSLRQHISERVLWDLGRDFRCTVGKLYPSCLEESPWKPPT
  YLFSTDGTEEFELDGEMVALPPV

• Structural information:
  • Protein Domains: (31..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000302586
• Other Databases: GeneCards:  KBTBD2  Malacards:  KBTBD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032868	response to insulin	IEA	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)