Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50846
Gene name	Desert hedgehog signaling molecule
Gene symbol	DHH
Synonyms (NCBI Gene)	GDMNGDXYMHHG-3SRXY7
Chromosome	12
Chromosome location	12q13.12
Summary	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

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017109	hsa-miR-335-5p	Microarray	18185580
MIRT934879	hsa-miR-1324	CLIP-seq
MIRT934880	hsa-miR-155	CLIP-seq
MIRT934881	hsa-miR-2053	CLIP-seq
MIRT934882	hsa-miR-3064-5p	CLIP-seq
MIRT934883	hsa-miR-3163	CLIP-seq
MIRT934884	hsa-miR-340	CLIP-seq
MIRT934885	hsa-miR-365	CLIP-seq
MIRT934886	hsa-miR-4687-3p	CLIP-seq
MIRT934887	hsa-miR-569	CLIP-seq
MIRT934888	hsa-miR-592	CLIP-seq
MIRT934889	hsa-miR-597	CLIP-seq
MIRT1547958	hsa-miR-145	CLIP-seq
MIRT1547959	hsa-miR-4287	CLIP-seq
MIRT1547960	hsa-miR-4304	CLIP-seq
MIRT1547961	hsa-miR-4685-3p	CLIP-seq
MIRT1547958	hsa-miR-145	CLIP-seq
MIRT1547959	hsa-miR-4287	CLIP-seq
MIRT1547960	hsa-miR-4304	CLIP-seq
MIRT1547961	hsa-miR-4685-3p	CLIP-seq
MIRT934879	hsa-miR-1324	CLIP-seq
MIRT934880	hsa-miR-155	CLIP-seq
MIRT934881	hsa-miR-2053	CLIP-seq
MIRT934885	hsa-miR-365	CLIP-seq
MIRT934886	hsa-miR-4687-3p	CLIP-seq
MIRT934887	hsa-miR-569	CLIP-seq
MIRT934888	hsa-miR-592	CLIP-seq
MIRT934889	hsa-miR-597	CLIP-seq
MIRT934879	hsa-miR-1324	CLIP-seq
MIRT934880	hsa-miR-155	CLIP-seq
MIRT934881	hsa-miR-2053	CLIP-seq
MIRT934885	hsa-miR-365	CLIP-seq
MIRT934886	hsa-miR-4687-3p	CLIP-seq
MIRT934887	hsa-miR-569	CLIP-seq
MIRT934888	hsa-miR-592	CLIP-seq
MIRT934889	hsa-miR-597	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0005113	Function	Patched binding	IBA
GO:0005113	Function	Patched binding	IDA	11472839, 33063110
GO:0005113	Function	Patched binding	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	19561611
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19561611, 20519495
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	24342078
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	ISS
GO:0008270	Function	Zinc ion binding	IDA	19561611
GO:0010468	Process	Regulation of gene expression	IBA
GO:0016020	Component	Membrane	IEA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030238	Process	Male sex determination	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0033327	Process	Leydig cell differentiation	IEA
GO:0042552	Process	Myelination	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IDA	24342078, 33063110
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050810	Process	Regulation of steroid biosynthetic process	IEA
GO:0097264	Process	Self proteolysis	ISS
GO:0140853	Function	Cholesterol-protein transferase activity	ISS

MIM	HGNC	e!Ensembl
605423	2865	ENSG00000139549

O43323

Protein name

Desert hedgehog protein (DHH) (EC 3.1.-.-) (HHG-3) [Cleaved into: Desert hedgehog protein N-product (DHH-N)]

Protein function

[Desert hedgehog protein]: The C-terminal part of the desert hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into tw

PDB

2WFQ , 2WFR , 2WG3 , 3N1G , 3N1Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01085	HH_signal	23 → 185	Hedgehog amino-terminal signalling domain	Domain
PF01079	Hint	188 → 396	Hint module	Family

Sequence

MALLTNLLPLCCLALLALPAQSCGPGRGPVGRRRYARKQLVPLLYKQFVPGVPERTLGAS
GPAEGRVARGSERFRDLVPNYNPDIIFKDEENSGADRLMTERCKERVNALAIAVMNMWPG
VRLRVTEGWDEDGHHAQDSLHYEGRALDITTSDRDRNKYGLLARLAVEAGFDWVYYESRN
HVHVSVKADNSLAVRAGGCFPGNATVRLWSGERKGLRELHRGDWVLAADASGRVVPTPVL
LFLDRDLQRRASFVAVETEWPPRKLLLTPWHLVFAARGPAPAPGDFAPVFARRLRAGDSV
LAPGGDALRPARVARVAREEAVGVFAPLTAHGTLLVNDVLASCYAVLESHQWAHRAFAPL
RLLHALGALLPGGAVQPTGMHWYSRLLYRLAEELLG

Sequence length

396

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway		Hedgehog ligand biogenesis Release of Hh-Np from the secreting cell Ligand-receptor interactions Activation of SMO HHAT G278V abrogates palmitoylation of Hh-Np

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	Pathogenic	rs104894346, rs1565573892, rs1939296210, rs1939295073	RCV000005313 RCV000678493 RCV001260584 RCV001260585
46,XY sex reversal 7	Pathogenic; Likely pathogenic	rs2120821285, rs111033589, rs1592184934, rs867798393, rs1565573786, rs1565572949, rs1480612338	RCV002249862 RCV000005314 RCV000005315 RCV000256189 RCV000714234 RCV000714235 RCV000714236 RCV000714237
DHH-related disorder	Likely pathogenic	rs1178487029	RCV003893731

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
46,XY DSD/46,XY CGD	Uncertain significance	rs886049492	RCV000307725
Disorder of sexual differentiation	Uncertain significance	rs1939270334	RCV001568330

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bipolar Disorder	Associate	23070075, 25517604
Chromosome 12 12p trisomy	Associate	22130798
Depressive Disorder	Associate	25517604
Neoplasm Metastasis	Associate	29329585
Neoplasms	Associate	29329585, 31588709
Ovarian Neoplasms	Associate	17083567
Tachycardia Atrioventricular Nodal Reentry	Associate	29329585

DHH (desert hedgehog signaling molecule)