DUSP6 - dual specificity phosphatase 6 Gene

Homo sapiens

Also known as HH19; MKP3; PYST1

Gene ID: 1848 | Gene type: protein coding

About DUSP6

Cytogenetic location: 12q21.33 Genomic coordinates (GRCh38): 12:89,347,235-89,352,501 (from NCBI)

This gene has 5 transcripts (splice variants), 209 orthologues, 30 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 46.5), fat (RPKM 44.7) and 24 other tissues.

Summary

The protein encoded by this gene is a member of the dual specificity protein Phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

DUSP6 Products(2)

mRNA	Protein	Name
NM_001946.4	NP_001937.2	dual specificity protein phosphatase 6 isoform a
NM_022652.4	NP_073143.2	dual specificity protein phosphatase 6 isoform b

DUSP6 Protein Structure

Rhodanese

DSPc

0
100
200
300
381 a.a.

Protein Preferred Names

Protein Names

dual specificity protein phosphatase 6

MAP kinase phosphatase 3

Related Diseases

Diseases

Alias

Hypogonadotropic Hypogonadism 19 With Or Without Anosmia

HH19	Hypogonadism, Hypogonadotropic, Type 19 With/Without Anosmia

Normosmic Congenital Hypogonadotropic Hypogonadism

Normosmic Idiopathic Hypogonadotropic Hypogonadism

Nihh

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Idiopathic Hypogonadotropic Hypogonadism	HH7
Hypogonadism, Isolated Hypogonadotropic	Ihh
Hypogonadism, Isolated, Hypogonadotropic	Hypogonadotropic Hypogonadism
Isolated Hypogonadotropic Hypogonadism	Hypogonadotropic Hypogonadism 7 Without Anosmia
Congenital Hypogonadotropic Hypogonadism Normosmic	Hh
Klinefelter Syndrome	Isolated Gonadotropin Deficiency

Congenital Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism

Klinefelter Syndrome	Klinefelter'S Syndrome
Xxy Syndrome	Xxy Trisomy
Hypogonadotropism	47, Xxy
Congenital Idiopathic Hypogonadotropic Hypogonadism	Isolated Congenital Gonadotropin Deficiency
47,Xxy Syndrome	47, Xxy Syndrome
Klinefelters Syndrome	Hypogonadism
Klinefelter Syndrome In Males	Klinefelter Syndrome, Unspecified
Klinefelter Syndrome Karyotype 47, Xxy

Hypogonadism

Endometrial Cancer

Endometrial Carcinoma	Endometrial Neoplasm
Malignant Neoplasm Of Endometrium	Endometrioid Carcinoma
Endometrial Neoplasms	Carcinoma, Endometrioid
Endometrial Cancer, Familial	Endometrial Carcinoma, Somatic
Endometrial Cancer, Susceptibility To	Endometrial Ca
Malignant Endometrial Neoplasm	Neoplasm Of Endometrium
Primary Malignant Neoplasm Of Endometrium	Tumor Of Endometrium
Carcinoma Of The Endometrium	Endometrioid Carcinoma Of Female Reproductive System
ENDMC	Carcinoma Endometrioid
Endometrial Cancers	Cancer, Endometrial
Uterine Corpus Cancer

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

Diffuse Large B-Cell Lymphoma

Dlbcl	Diffuse Large B-Cell Lymphoma, Not Otherwise Specified
Large B-Cell Diffuse Lymphoma	Lymphoma, Large B-Cell, Diffuse
Dlbcl - [Diffuse Large B-Cell Lymphoma]	Diffuse Large Beta Cell Lymphoma

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Scoliosis

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115502	BCI	Inhibitor	99.83%	Unkown
HY-115502A	BCI hydrochloride	Inhibitor	99.89%	Unkown
HY-126390	(E/Z)-BCI		/	Unkown
HY-RS04067	DUSP6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DUSP6	RGD	RGD:70978
Macaca mulatta	DUSP6	VGNC	VGNC:72013
Canis familiaris	DUSP6	VGNC	VGNC:40135
Bos taurus	DUSP6	VGNC	VGNC:28262
Mus musculus	DUSP6	MGD	MGI:1914853
Felis catus	DUSP6	VGNC	VGNC:61669

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