• Gene id: 22889

Gene Summary

• Gene Symbol: KHDC4   Gene   UCSC   Ensembl
• Aliases: BLOM7, KIAA0907, SNORA80EHG
• Gene name: KH domain containing 4, pre-mRNA splicing factor
• Alternate names: KH homology domain-containing protein 4, brings lots of money 7, pre-mRNA splicing factor protein KHDC4, protein BLOM7,
• Gene location: 1q22 (155934412: 155913044)     Exons: 14     NC_000001.11

Protein Summary

• Protein general information: Q7Z7F0  
  • Name: KH homology domain containing protein 4 (Brings lots of money 7) (Pre mRNA splicing factor protein KHDC4)
  • Length: 614  
  • Mass: 64845
  • Tissue specificity: Ubiquitous. Expressed at high level in skeletal muscle, kidney, heart, brain and liver. {ECO
• Sequence:

  MSAGSATHPGAGGRRSKWDQPAPAPLLFLPPAAPGGEVTSSGGSPGGTTAAPSGALDAAAAVAAKINAMLMAKGK
  LKPTQNASEKLQAPGKGLTSNKSKDDLVVAEVEINDVPLTCRNLLTRGQTQDEISRLSGAAVSTRGRFMTTEEKA
  KVGPGDRPLYLHVQGQTRELVDRAVNRIKEIITNGVVKAATGTSPTFNGATVTVYHQPAPIAQLSPAVSQKPPFQ
  SGMHYVQDKLFVGLEHAVPTFNVKEKVEGPGCSYLQHIQIETGAKVFLRGKGSGCIEPASGREAFEPMYIYISHP
  KPEGLAAAKKLCENLLQTVHAEYSRFVNQINTAVPLPGYTQPSAISSVPPQPPYYPSNGYQSGYPVVPPPQQPVQ
  PPYGVPSIVPPAVSLAPGVLPALPTGVPPVPTQYPITQVQPPASTGQSPMGGPFIPAAPVKTALPAGPQPQPQPQ
  PPLPSQPQAQKRRFTEELPDERESGLLGYQHGPIHMTNLGTGFSSQNEIEGAGSKPASSSGKERERDRQLMPPPA
  FPVTGIKTESDERNGSGTLTGSHDYPAKKMKTTEKGFGLVAYAADSSDEEEEHGGHKNASSFPQGWSLGYQYPSS
  QPRAKQQMPFWMAP

• Structural information:
  • Protein Domains: (100..18-)
    (/note="KH-1)
    (/evidence="ECO:0000305|PubMed:23144703-)
    (235..31-)
    (/note="KH-2)
    (/evidence="ECO:0000305|PubMed:23144703"-)
  • Interpro: IPR036612  IPR031121  
  • PDB: 2YQR
  • PDBsum: 2YQR
  • STRING: ENSP00000357304
• Other Databases: GeneCards:  KHDC4  Malacards:  KHDC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0005681	spliceosomal complex	IDA	colocalizes with
GO:0006376	mRNA splice site selection	IDA	biological process
GO:0005681	spliceosomal complex	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray