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Set Analyses:

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DHH Gene

protein-coding GIFtS: 63
GCID: GC12M049483

Desert Hedgehog

(Previous name: desert hedgehog (Drosophila) homolog)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Desert Hedgehog¹ ²		Desert Hedgehog (Drosophila) Homolog¹
HHG-3² ³		Desert Hedgehog Homolog²
GDXYM² ⁵		Desert Hedgehog Protein²
SRXY7² ⁵		Mutant Desert Hedgehog²

External Ids:	HGNC: 2865¹	Entrez Gene: 50846²	Ensembl: ENSG00000139549⁷	OMIM: 605423⁵	UniProtKB: O43323³

Export aliases for DHH gene to outside databases

Previous GC identifers: GC12P049326 GC12M049199 GC12M047769 GC12M046514

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DHH Gene:

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-terminal portion is soluble and contains the signalling activity while the

C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently

attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface

and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated

with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved

in both male gonadal differentiation and perineurial development. (provided by RefSeq, May 2010)

GeneCards Summary for DHH Gene:

DHH (desert hedgehog) is a protein-coding gene. Diseases associated with DHH include dhh-related 46,xy dsd and 46,xy cgd, and 46xy partial gonadal dysgenesis, with minifascicular neuropathy. GO annotations related to this gene include patched binding and calcium ion binding. An important paralog of this gene is SHH.

UniProtKB/Swiss-Prot: DHH_HUMAN, O43323

Function: Intercellular signal essential for a variety of patterning events during development. May function as a

spermatocyte survival factor in the testes. Essential for testes development

Gene Wiki entry for DHH (Desert hedgehog protein) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000012.12 NC_018923.2 NT_029419.13

Regulatory elements:

Regulatory transcription factor binding sites in the DHH gene promoter:
C/EBPbeta Pax-5 FOXD1 Egr-4 FOXL1 Roaz Max Zic1 Pax-4a c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DHH promoter sequence

Search Chromatin IP Primers for DHH

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.1 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q13.1

DHH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHH gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M049483: view genomic region (about GC identifiers)

Start:	49,483,204 bp from pter	End:	49,488,602 bp from pter
Size:	5,399 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DHH_HUMAN, O43323 (See protein sequence)

Recommended Name: Desert hedgehog protein precursor

Size: 396 amino acids; 43577 Da

Subunit: Interacts with BOC and CDON. Interacts with HHIP

5 PDB 3D structures from and Proteopedia for DHH:

2WFQ (3D)

2WFR (3D)

2WG3 (3D)

3N1G (3D)

3N1Q (3D)

Secondary accessions: Q15794

Explore the universe of human proteins at neXtProt for DHH: NX_O43323

Explore proteomics data for DHH at MOPED

Post-translational modifications:

The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities

result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the

C-terminal of the newly generated N-terminal fragment (N-product). This covalent modification appears to play an

essential role in restricting the spatial distribution of the protein activity to the cell surface. The N-product

is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By

similarity)¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See DHH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_066382.1

ENSEMBL proteins:

ENSP00000266991

Reactome Protein details: O43323

DHH Human Recombinant Protein Products:

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	R&D Systems Recombinant & Natural Proteins for DHH (Desert Hedgehog/Dhh)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom MassSpec OriGene Custom Protein Services for DHH
	GenScript Custom Purified and Recombinant Proteins Services for DHH
	Novus Biologicals DHH Proteins Novus Biologicals DHH Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for DHH
	Cloud-Clone Corp. Proteins for DHH

DHH Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DHH
	R&D Systems Antibodies for DHH (Desert Hedgehog/Dhh)
	OriGene Antibodies for DHH OriGene Custom Antibody Services for DHH
	Novus Biologicals DHH Antibodies
	Search for Antibodies for DHH at Abcam
	Cloud-Clone Corp. Antibodies for DHH
	ThermoFisher Antibodies for DHH
	LSBio Antibodies in human, mouse, rat for DHH

DHH Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for DHH
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DHH
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for DHH Cloud-Clone Corp. CLIAs for DHH

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 6):

IPR001657 Hedgehog

IPR003586 Hint_dom_C

IPR009045 Hedgehog_sig/DD-Pept_Zn-bd_dom

IPR000320 Hedgehog_signalling_dom

IPR001767 Hint_dom

Graphical View of Domain Structure for InterPro Entry O43323

ProtoNet protein and cluster: O43323

5 Blocks protein domains:

IPB000320 Hedgehog amino-terminal signaling domain

IPB001657 Sonic hedgehog protein signature

IPB001767 Hedgehog protein

IPB003586 Hedgehog/Intein hint domain

IPB009045 Hedgehog/DD-peptidase

UniProtKB/Swiss-Prot: DHH_HUMAN, O43323

Domain: The desert hedgehog protein N-product binds calcium and zinc ions; this stabilizes the protein fold and is

essential for protein-protein interactions mediated by this domain

Similarity: Belongs to the hedgehog family

DHH for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: DHH_HUMAN, O43323

Function: Intercellular signal essential for a variety of patterning events during development. May function as a

spermatocyte survival factor in the testes. Essential for testes development

Genatlas biochemistry entry for DHH:

desert hedgehog,murine homolog,expressed in developing heart,putatively involved in regulating the cardiac

development

Summary:

During embryonic development, DHH as signaling molecule is secreted from the following cells:

Testis: Sertoli cells (Seminiferous Tubules)

It affects the following cells: fully expand

Testis: Peritubular Myoid Cells (Testis Interstitium), Testicular Interstitial Cells (Testis Cord) fully expand to see all 3 cells

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005113	patched binding	IEA	--
GO:0005509	calcium ion binding	IDA	19561611
GO:0005515	protein binding	IPI	19561611
GO:0008233	peptidase activity	IEA	--
GO:0008270	zinc ion binding	IDA	19561611

DHH for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for DHH:

Elongated cells

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dhh):

digestive/alimentary	endocrine/exocrine gland	homeostasis/metabolism	nervous system	other
reproductive system

DHH for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Dhh^tm1Amc for DHH

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DHH

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DHH

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DHH

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DHH

miRNA Products:		miRTarBase miRNAs that target DHH: hsa-mir-335-5p (MIRT017109)

		Block miRNA regulation of human, mouse, rat DHH using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate DHH (see all 12):
		hsa-miR-623 hsa-miR-3163 hsa-miR-185* hsa-miR-3614-3p hsa-miR-4297 hsa-miR-1324 hsa-miR-340 hsa-miR-4282

		SwitchGear 3'UTR luciferase reporter plasmid: DHH 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DHH
		Predesigned siRNA for gene silencing in human, mouse, rat DHH

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DHH

Clone Products:		OriGene clones in human, mouse for DHH (see all 5) OriGene ORF clones in mouse, rat for DHH OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DHH (NM_015336)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHH

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DHH
		Browse ESI BIO Cell Lines and PureStem Progenitors for DHH

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHH

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

DHH_HUMAN, O43323: Desert hedgehog protein N-product: Cell membrane; Lipid-anchor; Extracellular side (By

similarity). Note=The N-terminal peptide remains associated with the cell surface (By similarity)

DHH_HUMAN, O43323: Desert hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The

C-terminal peptide diffuses from the cell (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	5
extracellular	2
nucleus	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IEA	--
GO:0005886	plasma membrane	IEA	--

DHH for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for DHH About (see all 9)

See pathways by source

SuperPath

Contained pathways About

Hedgehog Signaling Pathway

Hedgehog Pathway

0.32

Hedgehog Signaling Pathway

0.32

Signaling by GPCR

Signaling by GPCR

0.90

Signal Transduction

0.58

Activation of cAMP-Dependent PKA

Activation of PKA through GPCR

0.71

PKA Signaling

0.56

Peptide ligand-binding receptors

GPCR ligand binding

0.71

ERK Signaling

Molecular Mechanisms of Cancer

0.51

Pathways by source See SuperPaths
Show all pathways

4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DHH

	Activation of PKA through GPCR
	PKA Signaling
	Molecular Mechanisms of Cancer
	Hedgehog Signaling in Mammals

1 Tocris Bioscience Pathway for DHH

Hedgehog Pathway

2 BioSystems Pathways for DHH

	Hedgehog Signaling Pathway
	Signaling events mediated by the Hedgehog family

1 Reactome Pathway for DHH

Class B/2 (Secretin family receptors)

1 Kegg Pathway (Kegg details for DHH):

Hedgehog signaling pathway

DHH for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including DHH:

Hedgehog Signaling Pathway in human mouse rat

Polycomb & Trithorax Target Genes in human mouse rat

Stem Cells in human mouse rat

Interactions:

GeneGlobe Interaction Network for DHH

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for DHH (O43323³ ENSP00000266991⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 109)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTCH1	Q13635³, ENSP00000332353⁴	I2D: score=3 STRING: ENSP00000332353
HHIP	Q96QV1³, ENSP00000296575⁴	I2D: score=2 STRING: ENSP00000296575
BMP4	P12644³, ENSP00000245451⁴	I2D: score=1 STRING: ENSP00000245451
EBF3	Q9H4W6³, ENSP00000357637⁴	I2D: score=1 STRING: ENSP00000357637
GPC5	P78333³, ENSP00000366267⁴	I2D: score=1 STRING: ENSP00000366267

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Gene Ontology (GO): Selected biological process terms (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	--	--
GO:0007154	cell communication	--	--
GO:0007267	cell-cell signaling	IEA	--
GO:0007275	multicellular organismal development	--	--
GO:0007286	spermatid development	IEA	--

DHH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Selected ApexBio Compounds for DHH (see all 14)

About this table

Compound	Action	CAS #
AY 9944 dihydrochloride	Inhibitor of hedgehog (Hh) signaling	[366-93-8]
AZ 12080282 dihydrochloride	Inhibitor of Hedgehog (Hh) signaling	--
Ciliobrevin A	Hedgehog (Hh) pathway antagonist	[302803-72-1]
Cyclopamine	Smoothened inhibitor, directly binds to Smoothened and blocks Hedgehog pathway	[4449-51-8]
GANT 58	novel and potent Gli antagonist	[64048-12-0]
GANT61	GLI antagonist,inhibits GLI1 and GLI2-induced transcription	[500579-04-4]
GDC-0449 (Vismodegib)	Hedgehog antagonist	[879085-55-9]
HPI 1	Hedgehog (Hh) signaling inhibitor.	[599150-20-6]
Jervine	Inhibitor of Hedgehog signaling	[469-59-0]
JK 184	Potent downstream hedgehog (Hh) signaling inhibitor	[315703-52-7]

Browse Tocris compounds for DHH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DHH gene:

NM_021044.2

Unigene Cluster for DHH:

Desert hedgehog

Hs.524382 [show with all ESTs]

Unigene Representative Sequence: HQ607678

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000266991(uc001rtf.3)

miRNA Products:		Block miRNA regulation of human, mouse, rat DHH using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate DHH (see all 12):
		hsa-miR-623 hsa-miR-3163 hsa-miR-185* hsa-miR-3614-3p hsa-miR-4297 hsa-miR-1324 hsa-miR-340 hsa-miR-4282

		SwitchGear 3'UTR luciferase reporter plasmid: DHH 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DHH
		Predesigned siRNA for gene silencing in human, mouse, rat DHH

Clone Products:		OriGene clones in human, mouse for DHH (see all 5) OriGene ORF clones in mouse, rat for DHH OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DHH (NM_015336)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHH

Primer Products:		OriGene qPCR primer pairs and template standards for DHH OriGene qSTAR qPCR primer pairs in human, mouse for DHH
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DHH
		QuantiTect SYBR Green Assays in human, mouse, rat DHH
		QuantiFast Probe-based Assays in human, mouse, rat DHH

Additional mRNA sequence:

AK313360.1 BC033507.1 HQ607677.1 HQ607678.1 U59748.1

2 DOTS entries:

DT.423467 DT.91788446

3 AceView cDNA sequences:

BC033507 NM_021044 U59748

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DHH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCATTAACAC

About this image

DHH expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


Testis (Reproductive System) fully expand to see all 3 entries
Sertoli cells Seminiferous Tubules
Seminiferous Tubules

Peripheral Nervous System (Nervous System) fully expand to see all 2 entries
Immature Schwann Cells Peripheral Nerve Domain

Heart (Cardiovascular System) fully expand to see all 2 entries
Atrioventricular Canal Cells Atrioventricular Canal

Bone (Muscoskeletal System)
Chondrocytes Zeugopod Epiphyseal End

Cartilage (Muscoskeletal System)
Chondrocytes Zeugopod Epiphyseal End

DHH Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DHH Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.524382

Pathway & Disease-focused RT² Profiler PCR Arrays including DHH:

Hedgehog Signaling Pathway in human mouse rat

Polycomb & Trithorax Target Genes in human mouse rat

Stem Cells in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for DHH OriGene qSTAR qPCR primer pairs in human, mouse for DHH
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DHH
		QuantiTect SYBR Green Assays in human, mouse, rat DHH
		QuantiFast Probe-based Assays in human, mouse, rat DHH

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for DHH gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dhh^{1 , 5}	desert hedgehog^{1, 5}	88.83(n)¹ 97.34(a)¹		15 (55.05 cM)⁵ 13363¹ NM_007857.4¹ NP_031883.1¹ 98893031⁵
lizard (Anolis carolinensis)	Reptilia	DHH⁶	desert hedgehog	68(a)	1 ↔ 1	GL343198.1(2694519-2733148)
African clawed frog (Xenopus laevis)	Amphibia	dhh-A²	desert hedgehog homolog (Drosophila), hedgehog protein more	77.61(n)		U26350.1
zebrafish (Danio rerio)	Actinopterygii	dhh⁶	desert hedgehog	46(a)	1 ↔ 1	23(27981229-27989699) ENSDARG00000037062
fruit fly (Drosophila melanogaster)	Insecta	hh³	progression of morphogenetic furrow (sensu Drosophila) more	49(a)		3 94E1 --

ENSEMBL Gene Tree for DHH (if available)
TreeFam Gene Tree for DHH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DHH gene

SHH² IHH²

2 SIMAP similar genes for DHH using alignment to 3 protein entries: DHH_HUMAN (see all proteins):

IHH SHH

DHH for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_054873⁴		Complete pure gonadal dysgenesis 46,XY type (GDXYM)⁴	--	see VAR_054873	2	L P	mis⁴		0	--	--	--	--
rs111033589^1,2	C	pathogenic¹	49317669(-)	`GTTGCC/TGGCGC`	2	P L	mis¹		0	--	--	--	--
rs104894346^1,2	C	pathogenic¹	49320972(-)	`ATCCAC/TGGCTC`	2	T M	mis¹		0	--	--	--	--
rs147399157^1,2		--	49315422(+)	`CAGGTG/TTCCCA`	1	--	ds500¹		0	--	--	--	--
rs139635592^1,2		--	49315598(+)	`ACAGAA/GAAGAG`	1	--	ds500¹		0	--	--	--	--
rs183268973^1,2	C	--	49315682(+)	`GATGGA/GAGACG`	1	--	ds500¹		0	--	--	--	--
rs186396050^1,2		--	49315725(+)	`GTGGGC/TTCTGT`	1	--	ds500¹		0	--	--	--	--
rs145466782^1,2	C	--	49316101(+)	`ATAGTC/TCTCTT`	1	--	ut3¹		0	--	--	--	--
rs147261688^1,2	C	--	49316128(+)	`TCAGCC/GCTACC`	1	--	ut3¹		0	--	--	--	--
rs189970312^1,2		--	49316210(+)	`CTCCCC/GCTCCC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DHH (49483204 - 49488602 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for DHH: --
Human Gene Mutation Database (HGMD): DHH

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing DHH

DNA2.0 Custom Variant and Variant Library Synthesis for DHH

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 605423
OMIM disorders: 607080 233420
UniProtKB/Swiss-Prot: DHH_HUMAN, O43323

Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD) [MIM:607080]: Characterized by the

presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct

structures, and a variable degree of genital ambiguity. Note=The disease may be caused by mutations affecting the

gene represented in this entry

Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]: Type of hypogonadism in which no

functional gonads are present to induce puberty in an externally female person whose karyotype is then found to

be XY. The gonads are found to be non-functional streaks. Note=The disease may be caused by mutations affecting

the gene represented in this entry

20 diseases for DHH:
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gonadal dysgenesis mixed gonadal dysgenesis 46xy sex reversal 6 polyneuropathy

b-cell chronic lymphocytic leukemia pseudohermaphroditism chronic lymphocytic leukemia neurofibromatosis

hypogonadism basal cell carcinoma neuropathy endotheliitis

multiple myeloma myeloma leukemia breast cancer

1 disease from the University of Copenhagen DISEASES database for DHH:

Gonadal dysgenesis

DHH for disorders About GeneDecksing

GeneTests: DHH
GeneReviews: DHH

Export disorders for DHH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DHH gene, integrated from 10 sources (see all 26):
(articles sorted by number of sources associating them with DHH)

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A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. (PubMed id 11017805)^{1, 2, 9} Umehara F....Osame M. (Am. J. Hum. Genet. 2000)
Structural insights into hedgehog ligand sequestration by the human hedgehog-interacting protein HHIP. (PubMed id 19561611)^{1, 2} Bishop B....Siebold C. (Nat. Struct. Mol. Biol. 2009)
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. (PubMed id 15356051)^{1, 2} Canto P.... Mendez J.P. (J. Clin. Endocrinol. Metab. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Assignment of desert hedgehog (DHH) to human chromosome bands 12q12-->q13.1 by in situ hybridization. (PubMed id 10773676)^{1, 3} Tate G....Mitsuya T. (Cytogenet. Cell Genet. 2000)
Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization. (PubMed id 10640830)^{1, 3} Kamisago M....Matsuoka R. (Cytogenet. Cell Genet. 1999)
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. (PubMed id 23786321)¹ Castro J.J....Canto P. (DNA Cell Biol. 2013)
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)¹ Estrada K....Rivadeneira F. (Nat. Genet. 2012)
Desert hedgehog links transcription factor Sox10 to perineurial development. (PubMed id 22514309)¹ KA1spert M....Wegner M. (J. Neurosci. 2012)
Developmental pathways in breast cancer and breast tumor-initiating cells: therapeutic implications. (PubMed id 22123293)¹ Izrailit J. and Reedijk M. (Cancer Lett. 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 50846	HGNC: 2865	AceView: DHH	Ensembl:ENSG00000139549	euGenes: HUgn50846
ECgene: DHH	Kegg: 50846	H-InvDB: DHH

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DHH	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DHH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DHH gene:
Search GeneIP for patents involving DHH

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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