• Gene id: 23588

Gene Summary

• Gene Symbol: KLHDC2   Gene   UCSC   Ensembl
• Aliases: HCLP-1, HCLP1, LCP
• Gene name: kelch domain containing 2
• Alternate names: kelch domain-containing protein 2, hepatocellular carcinoma-associated antigen 33, host cell factor homolog LCP, host cell factor-like protein 1,
• Gene location: 14q21.3 (49767607: 49786384)     Exons: 14     NC_000014.9
• OMIM: 611280

Protein Summary

• Protein general information: Q9Y2U9  
  • Name: Kelch domain containing protein 2 (Hepatocellular carcinoma associated antigen 33) (Host cell factor homolog LCP) (Host cell factor like protein 1) (HCLP 1)
  • Length: 406  
  • Mass: 46099
  • Tissue specificity: Widely expressed, with high levels in skeletal muscle, heart, pancreas and liver. Undetectable in peripheral blood leukocytes. {ECO
• Sequence:

  MADGNEDLRADDLPGPAFESYESMELACPAERSGHVAVSDGRHMFVWGGYKSNQVRGLYDFYLPREELWIYNMET
  GRWKKINTEGDVPPSMSGSCAVCVDRVLYLFGGHHSRGNTNKFYMLDSRSTDRVLQWERIDCQGIPPSSKDKLGV
  WVYKNKLIFFGGYGYLPEDKVLGTFEFDETSFWNSSHPRGWNDHVHILDTETFTWSQPITTGKAPSPRAAHACAT
  VGNRGFVFGGRYRDARMNDLHYLNLDTWEWNELIPQGICPVGRSWHSLTPVSSDHLFLFGGFTTDKQPLSDAWTY
  CISKNEWIQFNHPYTEKPRLWHTACASDEGEVIVFGGCANNLLVHHRAAHSNEILIFSVQPKSLVRLSLEAVICF
  KEMLANSWNCLPKHLLHSVNQRFGSNNTSGS

• Structural information:
  • Interpro: IPR015915  
  • PDB: 6DO3 6DO4 6DO5
  • PDBsum: 6DO3 6DO4 6DO5
  • STRING: ENSP00000298307
• Other Databases: GeneCards:  KLHDC2  Malacards:  KLHDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component

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)