• Gene id: 50846

Gene Summary

• Gene Symbol: DHH   Gene   UCSC   Ensembl
• Aliases: GDXYM, HHG-3, SRXY7
• Gene name: desert hedgehog signaling molecule
• Alternate names: desert hedgehog protein,
• Gene location: 12q13.12 (49094800: 49086655)     Exons: 5     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-t
• OMIM: 300841

Protein Summary

• Protein general information: O43323  
  • Name: Desert hedgehog protein (DHH) (HHG 3) [Cleaved into: Desert hedgehog protein N product; Desert hedgehog protein C product]
  • Length: 396  
  • Mass: 43577
• Sequence:

  MALLTNLLPLCCLALLALPAQSCGPGRGPVGRRRYARKQLVPLLYKQFVPGVPERTLGASGPAEGRVARGSERFR
  DLVPNYNPDIIFKDEENSGADRLMTERCKERVNALAIAVMNMWPGVRLRVTEGWDEDGHHAQDSLHYEGRALDIT
  TSDRDRNKYGLLARLAVEAGFDWVYYESRNHVHVSVKADNSLAVRAGGCFPGNATVRLWSGERKGLRELHRGDWV
  LAADASGRVVPTPVLLFLDRDLQRRASFVAVETEWPPRKLLLTPWHLVFAARGPAPAPGDFAPVFARRLRAGDSV
  LAPGGDALRPARVARVAREEAVGVFAPLTAHGTLLVNDVLASCYAVLESHQWAHRAFAPLRLLHALGALLPGGAV
  QPTGMHWYSRLLYRLAEELLG

• Structural information:
  • Interpro: IPR001657  IPR001767  IPR009045  IPR000320  IPR003586   IPR003587  IPR036844  
  • PDB: 2WFQ 2WFR 2WG3 3N1G 3N1Q
  • PDBsum: 2WFQ 2WFR 2WG3 3N1G 3N1Q
  • DIP: 48538
  • STRING: ENSP00000266991
• Other Databases: GeneCards:  DHH  Malacards:  DHH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010468	regulation of gene expression	IBA	biological process
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0001708	cell fate specification	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005113	patched binding	IBA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0007267	cell-cell signaling	IEA	biological process
GO:0016540	protein autoprocessing	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0050810	regulation of steroid biosynthetic process	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0005113	patched binding	IEA	molecular function
GO:0007286	spermatid development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0001708	cell fate specification	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005113	patched binding	IBA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0007267	cell-cell signaling	IEA	biological process
GO:0016540	protein autoprocessing	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0050810	regulation of steroid biosynthetic process	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0005113	patched binding	IEA	molecular function
GO:0007286	spermatid development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
46,XY gonadal dysgenesis	KEGG:H00607
46,XY gonadal dysgenesis	KEGG:H00607
46 XY gonadal dysgenesis	PMID:11017805
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	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