JARID2 - jumonji and AT-rich interaction domain containing 2 Gene

Homo sapiens

Also known as JMJ; DIDDF

Gene ID: 3720 | Gene type: protein coding

About JARID2

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:15,246,069-15,522,042 (from NCBI)

This gene has 3 transcripts (splice variants), 221 orthologues, 10 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 19.2), testis (RPKM 12.2) and 23 other tissues.

Summary

This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]

JARID2 Products(2)

mRNA	Protein	Name
NM_001267040.1	NP_001253969.1	protein Jumonji isoform 2
NM_004973.4	NP_004964.2	protein Jumonji isoform 1

JARID2 Protein Structure

JmjN

ARID

JmjC

zf-C5HC2

0
200
400
600
800
1000
1246 a.a.

Protein Preferred Names

Protein Names

protein Jumonji

jumonji homolog

Related Diseases

Diseases

Alias

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Autosomal Dominant Non-Syndromic Intellectual Disability

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Weaver Syndrome

Wss	Weaver-Smith Syndrome
WVS	Weaver-Like Syndrome
Weaver-Williams Syndrome	Camptodactyly-Overgrowth-Unusual Facies Syndrome
Camptodactyly - Overgrowth - Unusual Facies	Ezh2 Related Overgrowth
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly	Weaver Smith Syndrome
Weaver Like Syndrome	Weaver Williams Syndrome
Camptodactyly-Overgrowth-Unusual Facies	Weaver Syndrome 1
Weaver Syndrome 2	Wvs1
Wvs2

Rhabdomyosarcoma

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect	Taussig-Bing Syndrome
Dextrotransposition Of Aorta	Taussig-Bing Syndrome Or Defect
Dorv	Dorv With Subpulmonary Vsd
Dorv-Tga	Double Outlet Right Ventricle With Transposition Of The Great Arteries
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type	Taussig-Bing Heart
Taussig-Bing Malformation	Taussig-Bing Complex
Taussig-Bing Defect	Taussig-Bing
Double Outlet Right Ventricle With Remote Ventricular Septal Defect	Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
Double Outlet Right Ventricle With Non-Committed Interventricular Communication	Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07030	JARID2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	JARID2	VGNC	VGNC:30371
Canis familiaris	JARID2	VGNC	VGNC:42181
Rattus norvegicus	JARID2	RGD	RGD:1591663
Macaca mulatta	JARID2	VGNC	VGNC:73956
Felis catus	JARID2	VGNC	VGNC:67879
Mus musculus	JARID2	MGD	MGI:104813

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