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Aliases for DHH Gene

Aliases for DHH Gene

  • Desert Hedgehog 2 3
  • HHG-3 3 4
  • Desert Hedgehog (Drosophila) Homolog 2
  • Desert Hedgehog Homolog 3
  • Mutant Desert Hedgehog 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 - motor and sensory neuropathy and dhh-related 46,xy dsd and 46,xy cgd. Among its related pathways are Signaling by GPCR and Activation of cAMP-Dependent PKA. 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

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

Genomics for DHH Gene

Regulatory Elements for DHH Gene

Genomic Location for DHH Gene

Chromosome:
12
Start:
49,089,421 bp from pter
End:
49,094,819 bp from pter
Size:
5,399 bases
Orientation:
Minus strand

Genomic View for DHH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DHH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHH Gene

Proteins for DHH Gene

  • 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

Proteomics data for DHH Gene at MOPED

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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DHH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for DHH (Desert Hedgehog/Dhh)

No data available for DME Specific Peptides for DHH Gene

Domains & Families for DHH Gene

Suggested Antigen Peptide Sequences for DHH Gene

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

No data available for Gene Families for DHH Gene

Function for DHH Gene

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

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

Animal Models for DHH Gene

MGI Knock Outs for DHH:

Animal Model Products

miRNA for DHH Gene

miRTarBase miRNAs that target DHH

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
Jensen Localization Image for DHH Gene COMPARTMENTS Subcellular localization image for DHH gene
Compartment Confidence
extracellular 3
plasma membrane 3
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DHH Gene

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

Pathways & Interactions for DHH Gene

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

PCR Array Products

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:0006508 proteolysis IEA --
GO:0007154 cell communication --
GO:0007267 cell-cell signaling IEA --
GO:0007275 multicellular organismal development --
GO:0007286 spermatid development IEA --
genes like me logo Genes that share ontologies with DHH: view

Drugs & Compounds for DHH Gene

(6) 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, GLI antagonist; inhibits Hedgehog (Hh) signaling 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
genes like me logo Genes that share compounds with DHH: view

Transcripts for DHH Gene

mRNA/cDNA for DHH Gene

(1) 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:

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

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for DHH Gene Hs.524382

genes like me logo Genes that share expression patterns with DHH: view

Protein tissue co-expression partners for DHH Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia DHH 35
  • 91.22 (n)
  • 97.22 (a)
DHH 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHH 35
  • 88.06 (n)
  • 92.84 (a)
DHH 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhh 35
  • 88.83 (n)
  • 97.34 (a)
Dhh 16
Dhh 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhh 35
  • 88.39 (n)
  • 97.61 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia DHH 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHH 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhh 35
  • 63.41 (n)
  • 66.94 (a)
African clawed frog
(Xenopus laevis)
Amphibia dhh-A 35
zebrafish
(Danio rerio)
Actinopterygii dhh 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hh 37
  • 49 (a)
hh 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
Species with no ortholog for DHH:
  • 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 Sequence Context AA Info Type MAF
rs74404179 -- 49,088,974(+) GATCA(G/T)CAGTT downstream-variant-500B
rs139635592 -- 49,089,137(+) ACAGA(A/G)AAGAG downstream-variant-500B
rs147399157 -- 49,088,961(+) CAGGT(G/T)TCCCA downstream-variant-500B
rs183268973 -- 49,089,221(+) GATGG(A/G)AGACG downstream-variant-500B
rs186396050 -- 49,089,264(+) GTGGG(C/T)TCTGT downstream-variant-500B

Variation tolerance for DHH Gene

Residual Variation Intolerance Score: 34.84% 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)

Relevant External Links for DHH Gene

HapMap Linkage Disequilibrium report
DHH
Human Gene Mutation Database (HGMD)
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

(12) MalaCards diseases for DHH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
46,xy gonadal dysgenesis - motor and sensory neuropathy
dhh-related 46,xy dsd and 46,xy cgd
46xy partial gonadal dysgenesis, with minifascicular neuropathy
  • 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy
46xy sex reversal 7
  • 46,xy sex reversal, type 7
gonadal dysgenesis
  • gonadal dysgenesis syndrome
- elite association
Search DHH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHH_HUMAN
  • 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. {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.

Relevant External Links for DHH

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

No data available for Genatlas for DHH Gene

Publications for DHH Gene

  1. Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. (PMID: 18000096) Dumic M. … New M.I. (J. Clin. Endocrinol. Metab. 2008) 23 67
  2. Assignment of desert hedgehog (DHH) to human chromosome bands 12q12-->q13.1 by in situ hybridization. (PMID: 10773676) Tate G. … Mitsuya T. (Cytogenet. Cell Genet. 2000) 2 67
  3. 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. (Am. J. Hum. Genet. 2000) 23 67
  4. Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization. (PMID: 10640830) Kamisago M. … Matsuoka R. (Cytogenet. Cell Genet. 1999) 2 67
  5. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. (PMID: 25927242) Werner R. … Hiort O. (J. Clin. Endocrinol. Metab. 2015) 67

Products for DHH Gene

Sources for DHH Gene

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