DHH - desert hedgehog signaling molecule Gene

Also Known as GDMN; GDXYM; HHG-3; SRXY7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50846

About DHH

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,086,656-49,094,801 (from NCBI)

This gene has 1 transcript (splice variant), 291 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 5.9) and appendix (RPKM 0.3).

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-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]

DHH Products (1)

mRNA	Protein	Name
NM_021044.4	NP_066382.1	desert hedgehog protein preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	19561611	GOA
enables patched binding	IDA IDA: Inferred from direct assay	11472839	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19561611	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	19561611	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of smoothened signaling pathway	IDA IDA: Inferred from direct assay	24342078	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	24342078	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHH Protein Structure

HH_signal

Hint

0
100
200
300
396 a.a.

Protein Preferred Names	Protein Names
desert hedgehog protein

DHH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DHH	O43323	CDON	Homo sapiens	Q4KMG0	ITC	20519495
Intra	DHH	O43323	CDON	Homo sapiens	Q4KMG0	X-Ray Diffraction	20519495
Intra	DHH	O43323	BOC	Homo sapiens	Q9BWV1	ITC	20519495
Intra	DHH	O43323	BOC	Homo sapiens	Q9BWV1	X-Ray Diffraction	20519495

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DHH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7338	DHH Protein, Human (C23II)	O43323 (G24-G198, C23II)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700253	DHH Protein, Human (His-GST, Myc)	O43323 (G51-K158)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome GDMN 46xy Gonadal Dysgenesis With Minifascicular Neuropathy
46,Xy Sex Reversal 7	SRXY7 46,Xy Sex Reversal, Partial Or Complete, Dhh-Related 46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related Gdxym Gonadal Dysgenesis, Xy, Male-Limited 46xy Sex Reversal 7 Gonadal Dysgenesis, Xy, Male Limited Complete Pure Gonadal Dysgenesis 46,Xy Type Male-Limited Gonadal Dysgenesis 46,Xy 46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Polyneuropathy	Polyneuropathies
Acrocapitofemoral Dysplasia	ACFD Dysplasia, Acrocapitofemoral
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Plexiform Neurofibroma	Neurofibroma Plexiform Neurofibroma, Plexiform
Brachydactyly, Type A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Petrous Apex Meningioma	Meningioma Of The Petrous Ridge
46,Xx Sex Reversal	46,Xx Testicular Disorder Of Sex Development 46,Xx Testicular Dsd De La Chapelle Syndrome Srxx Xx, Male Syndrome 46, Xx Testicular Disorders Of Sex Development
Greig Cephalopolysyndactyly Syndrome	GCPS Polysyndactyly With Peculiar Skull Shape Polysyndactyly With Peculiars Skull Shape Greig Syndrome Cephalopolysyndactyly Syndrome Greig Cephalo-Poly-Syndactyly Syndrome Cephalopolysyndactyly, Greig Syndrome Aarskog Syndrome
45,X/46,Xy Mixed Gonadal Dysgenesis	45,X/46,Xy Mgd 45,X0/46,Xy Mgd 45,X0/46,Xy Mixed Gonadal Dysgenesis
Holoprosencephaly 7	HPE7 Holoprosencephaly-7 Holoprosencephaly, Type 7
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Joubert Syndrome 32	JBTS32
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-181525	Mito-DHH chloride		/	Unkown
HY-RS03733	DHH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17357	Dhh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23811	Dhh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DHH	VGNC	VGNC:28037
Canis familiaris	DHH	VGNC	VGNC:39930
Mus musculus	DHH	MGD	MGI:94891
Rattus norvegicus	DHH	RGD	RGD:620711
Macaca mulatta	DHH	VGNC	VGNC:71794
Others	DHH	NCBI