• Gene id: 3087

Gene Summary

• Gene Symbol: HHEX   Gene   UCSC   Ensembl
• Aliases: HEX, HMPH, HOX11L-PEN, PRH, PRHX
• Gene name: hematopoietically expressed homeobox
• Alternate names: hematopoietically-expressed homeobox protein HHEX, homeobox protein HEX, homeobox protein PRH, homeobox, hematopoietically expressed, proline-rich homeodomain-containing transcription factor,
• Gene location: 10q23.33 (92689954: 92695646)     Exons: 4     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [
• OMIM: 605110

Protein Summary

• Protein general information: Q03014  
  • Name: Hematopoietically expressed homeobox protein HHEX (Homeobox protein HEX) (Homeobox protein PRH)
  • Length: 270  
  • Mass: 30022
  • Tissue specificity: Liver and promyelocytic leukemia cell line HL-60. {ECO
• Sequence:

  MQYPHPGPAAGAVGVPLYAPTPLLQPAHPTPFYIEDILGRGPAAPTPAPTLPSPNSSFTSLVSPYRTPVYEPTPI
  HPAFSHHSAAALAAAYGPGGFGGPLYPFPRTVNDYTHALLRHDPLGKPLLWSPFLQRPLHKRKGGQVRFSNDQTI
  ELEKKFETQKYLSPPERKRLAKMLQLSERQVKTWFQNRRAKWRRLKQENPQSNKKEELESLDSSCDQRQDLPSEQ
  NKGASLDSSQCSPSPASQEDLESEISEDSDQEVDIEGDKSYFNAG

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 2E1O
  • PDBsum: 2E1O
  • STRING: ENSP00000282728
• Other Databases: GeneCards:  HHEX  Malacards:  HHEX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA 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: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: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: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: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: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:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0043434	response to peptide hormone	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0017025	TBP-class protein binding	TAS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	TAS	molecular function
GO:0008190	eukaryotic initiation factor 4E binding	IDA	molecular function
GO:0008301	DNA binding, bending	IDA	molecular function
GO:0070491	repressing transcription factor binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0070663	regulation of leukocyte proliferation	IDA	biological process
GO:0010621	negative regulation of transcription by transcription factor localization	IC	biological process
GO:0030154	cell differentiation	IC	biological process
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0016525	negative regulation of angiogenesis	ISS	biological process
GO:0016973	poly(A)+ mRNA export from nucleus	IMP	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0030948	negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006406	mRNA export from nucleus	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0071103	DNA conformation change	IDA	biological process
GO:0010944	negative regulation of transcription by competitive promoter binding	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030177	positive regulation of Wnt signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Type 2 diabetes mellitus	KEGG:H00409
Type 2 diabetes mellitus	KEGG:H00409
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881