• Gene id: 1749

Gene Summary

• Gene Symbol: DLX5   Gene   UCSC   Ensembl
• Aliases: SHFM1, SHFM1D
• Gene name: distal-less homeobox 5
• Alternate names: homeobox protein DLX-5, distal-less homeo box 5, split hand/foot malformation type 1 with sensorineural hearing loss,
• Gene location: 7q21.3 (97024830: 97020395)     Exons: 5     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail
• OMIM: 616091

Protein Summary

• Protein general information: P56178  
  • Name: Homeobox protein DLX 5
  • Length: 289  
  • Mass: 31540
• Sequence:

  MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQY
  QYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLA
  ALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWE
  PQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY

• Structural information:
  • Interpro: IPR022135  IPR009057  IPR017970  IPR001356  IPR020479   IPR000047  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 2DJN 4RDU
  • PDBsum: 2DJN 4RDU
  • STRING: ENSP00000222598
• Other Databases: GeneCards:  DLX5  Malacards:  DLX5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048646	anatomical structure formation involved in morphogenesis	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0008283	cell population proliferation	IDA	biological process
GO:0001649	osteoblast differentiation	ISS	biological process
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:0001503	ossification	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0097376	interneuron axon guidance	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060349	bone morphogenesis	IEA	biological process
GO:0060322	head development	IEA	biological process
GO:0060166	olfactory pit development	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043583	ear development	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	IEA	biological process
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0060325	face morphogenesis	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0021889	olfactory bulb interneuron differentiation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0071773	cellular response to BMP stimulus	ISS	biological process
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001958	endochondral ossification	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Split-hand/foot malformation	KEGG:H00471
Split-hand/foot malformation	KEGG:H00471
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