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DHH Gene(Protein Coding)

Desert Hedgehog

GCID:
GC12M049094
GIFtS:
53
Genes Participants
UDN Logo

Aliases for DHH Gene

Aliases for DHH Gene

  • Desert Hedgehog 2 3 5
  • HHG-3 3 4
  • Desert Hedgehog (Drosophila) Homolog 2
  • Desert Hedgehog Protein 3
  • GDXYM 3
  • SRXY7 3

External Ids for DHH Gene

Previous GeneCards Identifiers for DHH Gene

  • GC12P049326
  • GC12M049199
  • GC12M047769
  • GC12M049483
  • GC12M046514

Summaries for DHH Gene

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 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy and 46,Xy Sex Reversal 7. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include calcium ion binding and patched binding. An important paralog of this gene is SHH.

UniProtKB/Swiss-Prot for DHH Gene

  • 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 Gene

Additional gene information for DHH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHH Gene

Genomics for DHH Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for DHH Gene

Promoters and enhancers for DHH Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12I049090 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +1.7 1716 4.3 HDGF SMAD1 ARNT ARID4B ZNF766 E2F8 ZNF143 REST ZNF592 MEF2D DHH LMBR1L OR5BK1P LOC105369759
GH12I050084 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.1 -990.5 -990545 2.2 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 SMARCD1 LMBR1L LOC100422296 CERS5 BCDIN3D ENSG00000257298 ENSG00000257964 DHH PRPH PRPF40B
GH12I048956 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 +138.0 138001 3 HDGF PKNOX1 CLOCK SMAD1 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ARF3 ENSG00000272822 CCNT1 KANSL2 LMBR1L LOC390314 DDX23 KMT2D SENP1 PRPF40B
GH12I048865 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 +228.6 228589 2.2 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 RND1 DDX23 KMT2D KANSL2 LOC390314 CCNT1 LMBR1L SENP1 BCDIN3D PRPF40B
GH12I048903 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 9.8 +191.0 190957 1.6 ZFP64 ARID4B SIN3A ZNF213 ZNF143 RUNX3 RXRA ZC3H11A REST ZNF623 CCDC65 RPL32P27 DDX23 KMT2D LMBR1L BCDIN3D SENP1 KANSL2 LOC390314 CCNT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DHH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DHH gene promoter:

Genomic Locations for DHH Gene

Genomic Locations for DHH Gene
chr12:49,089,421-49,094,819
(GRCh38/hg38)
Size:
5,399 bases
Orientation:
Minus strand
chr12:49,483,204-49,488,602
(GRCh37/hg19)

Genomic View for DHH Gene

Genes around DHH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DHH Gene

Proteins for DHH Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DHH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43323-DHH_HUMAN
    Recommended name:
    Desert hedgehog protein
    Protein Accession:
    O43323
    Secondary Accessions:
    • Q15794

    Protein attributes for DHH Gene

    Size:
    396 amino acids
    Molecular mass:
    43577 Da
    Quaternary structure:
    • Interacts with BOC and CDON. Interacts with HHIP.

    Three dimensional structures from OCA and Proteopedia for DHH Gene

neXtProt entry for DHH Gene

Protein Expression for DHH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DHH Gene

  • 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).

Other Protein References for DHH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DHH Gene

Domains & Families for DHH Gene

Gene Families for DHH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for DHH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DHH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43323

UniProtKB/Swiss-Prot:

DHH_HUMAN :
  • 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.
  • Belongs to the hedgehog family.
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.
Family:
  • Belongs to the hedgehog family.
genes like me logo Genes that share domains with DHH: view

Function for DHH Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DHH Gene

GENATLAS Biochemistry:
desert hedgehog,murine homolog,expressed in developing heart,putatively involved in regulating the cardiac development
UniProtKB/Swiss-Prot 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.

LifeMap Function Summary for DHH Gene

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

Phenotypes From GWAS Catalog for DHH Gene

Gene Ontology (GO) - Molecular Function for DHH Gene

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
genes like me logo Genes that share ontologies with DHH: view
genes like me logo Genes that share phenotypes with DHH: view

Human Phenotype Ontology for DHH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHH Gene

MGI Knock Outs for DHH:

Animal Model Products

miRNA for DHH Gene

miRTarBase miRNAs that target DHH

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DHH Gene

Localization for DHH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHH Gene

Desert hedgehog protein N-product: Cell membrane; Lipid-anchor; Extracellular side. Note=The N-terminal peptide remains associated with the cell surface. {ECO:0000250}.
Desert hedgehog protein C-product: Secreted, extracellular space. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHH gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DHH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DHH Gene

Pathways & Interactions for DHH Gene

genes like me logo Genes that share pathways with DHH: view

SIGNOR curated interactions for DHH Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0006508 proteolysis IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007267 cell-cell signaling IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with DHH: view

Drugs & Compounds for DHH Gene

Products:

  1. Drug

(7) Drugs for DHH Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclopamine Pharma Hedgehog (Hh) signaling Inhibitor, Inhibitor of Hedgehog (Hh) signaling 0
GANT61 Pharma GLI antagonist 0
GDC-0449 (Vismodegib) Pharma Hedgehog antagonist,potent and selective 0
LY2940680 Pharma Hedgehog/SMO antagonist,inhibits Hh signaling 0
PF-5274857 Pharma Smo antagonist,potent and selective 0

(7) ApexBio Compounds for DHH Gene

Compound Action Cas Number
Cyclopamine Hedgehog (Hh) signaling Inhibitor 4449-51-8
GANT61 GLI antagonist 500579-04-4
GDC-0449 (Vismodegib) Hedgehog antagonist,potent and selective 879085-55-9
LY2940680 Hedgehog/SMO antagonist,inhibits Hh signaling 1258861-20-9
PF-5274857 Smo antagonist,potent and selective 1373615-35-0
Purmorphamine Hedgehog agonist 483367-10-8
SANT-1 Shh inhibitor,potent and cell-permeable 304909-07-7
genes like me logo Genes that share compounds with DHH: view

Drug Products

Transcripts for DHH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DHH Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DHH Gene

Desert hedgehog:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHH Gene

No ASD Table

Relevant External Links for DHH Gene

GeneLoc Exon Structure for
DHH
ECgene alternative splicing isoforms for
DHH

Expression for DHH Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DHH Gene

mRNA expression in normal human tissues for DHH Gene
mRNA expression by BioGPS for DHH GenemRNA expression by GTEx for DHH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DHH Gene

This gene is overexpressed in Nerve - Tibial (x20.9) and Testis (x16.1).

Protein differential expression in normal tissues from HIPED for DHH Gene

This gene is overexpressed in Serum (42.9) and Cerebrospinal fluid (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DHH Gene



Protein tissue co-expression partners for DHH Gene

NURSA nuclear receptor signaling pathways regulating expression of DHH Gene:

DHH

SOURCE GeneReport for Unigene cluster for DHH Gene:

Hs.524382

Evidence on tissue expression from TISSUES for DHH Gene

  • Nervous system(4.3)
  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • pituitary gland
Thorax:
  • breast
  • clavicle
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DHH: view

No data available for mRNA Expression by UniProt/SwissProt for DHH Gene

Orthologs for DHH Gene

This gene was present in the common ancestor of animals.

Orthologs for DHH Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
 Mammalia DHH 34
  • 96 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia DHH 33 34
  • 91.22 (n)
mouse
(Mus musculus)
 Mammalia Dhh 33 16 34
  • 88.83 (n)
rat
(Rattus norvegicus)
 Mammalia Dhh 33
  • 88.39 (n)
dog
(Canis familiaris)
 Mammalia DHH 33 34
  • 88.06 (n)
lizard
(Anolis carolinensis)
 Reptilia DHH 34
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dhh 33
  • 63.41 (n)
African clawed frog
(Xenopus laevis)
 Amphibia dhh-A 33
zebrafish
(Danio rerio)
 Actinopterygii dhh 34
  • 46 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta hh 35 34
  • 49 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 43 (a)
 ManyToMany
-- 34
  • 31 (a)
 ManyToMany
Species where no ortholog for DHH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DHH Gene

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

Paralogs for DHH Gene

Paralogs for DHH Gene

(2) SIMAP similar genes for DHH Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DHH: view

Variants for DHH Gene

Sequence variations from dbSNP and Humsavar for DHH Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1033987082 uncertain-significance, 46,XY sex reversal, type 7 49,090,190(-) G/A/T coding_sequence_variant, missense_variant
rs104894346 pathogenic, 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy 49,094,511(-) A/G genic_upstream_transcript_variant, initiator_codon_variant, missense_variant, upstream_transcript_variant
rs111033589 pathogenic, 46,XY gonadal dysgenesis, complete, dhh-related, 46,XY sex reversal 7 (SRXY7) [MIM:233420] 49,091,208(-) A/G coding_sequence_variant, missense_variant
rs112818602 likely-benign, 46,XY DSD/46,XY CGD 49,094,530(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs117527954 uncertain-significance, 46,XY DSD/46,XY CGD 49,091,150(-) G/A/T coding_sequence_variant, missense_variant, synonymous_variant

Variation tolerance for DHH Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHH Gene

Human Gene Mutation Database (HGMD)
DHH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DHH Gene

Disorders for DHH Gene

MalaCards: The human disease database

(9) MalaCards diseases for DHH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
46,xy gonadal dysgenesis, partial, with minifascicular neuropathy
  • 46xy partial gonadal dysgenesis, with minifascicular neuropathy
46,xy sex reversal 7
  • srxy7
46 xy gonadal dysgenesis
  • 46,xy sex reversal
gonadal dysgenesis
  • gonadal dysgenesis syndrome
mixed gonadal dysgenesis
  • gonadal dysgenesis mixed
- elite association - COSMIC cancer census association via MalaCards
Search DHH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHH_HUMAN
  • 46,XY sex reversal 7 (SRXY7) [MIM:233420]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads. {ECO:0000269 PubMed:15356051}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11017805}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DHH

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DHH: view

No data available for Genatlas for DHH Gene

Publications for DHH Gene

  1. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. (PMID: 11017805) Umehara F … Osame M (American journal of human genetics 2000) 3 4 22 58
  2. Structural insights into hedgehog ligand sequestration by the human hedgehog-interacting protein HHIP. (PMID: 19561611) Bishop B … Siebold C (Nature structural & molecular biology 2009) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. (PMID: 15356051) Canto P … Méndez JP (The Journal of clinical endocrinology and metabolism 2004) 3 4 58
  5. Assignment of desert hedgehog (DHH) to human chromosome bands 12q12-->q13.1 by in situ hybridization. (PMID: 10773676) Tate G … Mitsuya T (Cytogenetics and cell genetics 2000) 2 3 58

Products for DHH Gene

Sources for DHH Gene

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