ADAR - adenosine deaminase RNA specific Gene

Homo sapiens

Also known as DSH; AGS6; G1P1; IFI4; P136; ADAR1; DRADA; DSRAD; IFI-4; K88DSRBP

Gene ID: 103 | Gene type: protein coding

About ADAR

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,582,057-154,627,997 (from NCBI)

This gene has 33 transcripts (splice variants), 213 orthologues, 14 paralogues and is associated with 8 phenotypes. Ubiquitous expression in spleen (RPKM 49.6), appendix (RPKM 40.8) and 25 other tissues.

Summary

This gene encodes the Enzyme responsible for RNA editing by site-specific deamination of adenosines. This Enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

ADAR Products(10)

mRNA	Protein	Name
NM_001025107.3	NP_001020278.1	double-stranded RNA-specific adenosine deaminase isoform d
NM_001111.5	NP_001102.3	double-stranded RNA-specific adenosine deaminase isoform a
NM_001193495.2	NP_001180424.1	double-stranded RNA-specific adenosine deaminase isoform d
NM_001365045.1	NP_001351974.1	double-stranded RNA-specific adenosine deaminase isoform e
NM_001365046.1	NP_001351975.1	double-stranded RNA-specific adenosine deaminase isoform d
NM_001365047.1	NP_001351976.1	double-stranded RNA-specific adenosine deaminase isoform d
NM_001365048.1	NP_001351977.1	double-stranded RNA-specific adenosine deaminase isoform d
NM_001365049.1	NP_001351978.1	double-stranded RNA-specific adenosine deaminase isoform f
NM_015840.4	NP_056655.3	double-stranded RNA-specific adenosine deaminase isoform b
NM_015841.4	NP_056656.3	double-stranded RNA-specific adenosine deaminase isoform c

ADAR Protein Structure

z-alpha

dsrm

A_deamin

0
200
400
600
800
1000
1226 a.a.

Protein Preferred Names

Protein Names

double-stranded RNA-specific adenosine deaminase

136 kDa double-stranded RNA-binding protein

Related Diseases

Diseases

Alias

Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1	Reticulate Acropigmentation Of Dohi
DSH	Dsh1
Symmetric Dyschromatosis Of The Extremities	Rad
Familial Reticulate Acropigmentation Of Dohi	Acropigmentation Of Dohi
Symmetrical Dyschromatosis Of Extremities

Aicardi-Goutieres Syndrome 6

AGS6	Pseudo-Torch Syndrome
Cree Encephalitis	Aicardi-Goutieres Syndrome, Type 6
Aicardi-Goutieres Syndrome 1

Familial Infantile Bilateral Striatal Necrosis

Familial Ibsn	Familial Infantile Striatonigral Degeneration
Familial Infantile Striatonigral Necrosis

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome	Cree Encephalitis
Aicardi-Goutières Syndrome	Encephalopathy With Basal Ganglia Calcification
Ags	Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
Pseudotoxoplasmosis Syndrome	Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome 1

Measles

Rubeola	Morbilli
Measles Nos	Koplik Spots

Stomatitis

Cervical Non-Keratinizing Squamous Cell Carcinoma

Hepatitis D

Delta Hepatitis	Hepatitis Delta
Hdv	Hepatitis D Virus
Hepatitis D Infection

Cervical Keratinizing Squamous Cell Carcinoma

Adenosine Deaminase Deficiency

Ada Deficiency	Ada-Scid
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Scid Due To Ada Deficiency	Severe Combined Immunodeficiency Due To Ada Deficiency
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Ada
Scid Due To Adenosine Deaminase Deficiency

Adult Liposarcoma

Dyschromatosis Universalis Hereditaria

Duh

Lymphocytic Choriomeningitis

Lcm	Lymphocytic Meningitis
Lymphocytic Choriomeningitis Virus Encephalomyelitis	Lymphocytic Meningoencephalitis
Non-Arthropod Borne Lymphocytic Choriomeningitis	Lcm - [Lymphocytic Choriomeningitis]
Benign Lymphocytic Meningitis	Meningitis Due To Lymphocytic Choriomeningitis Virus

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Human Immunodeficiency Virus Type 1

Aids	Hiv/Aids
Aids, Delayed/Rapid Progression To	Hiv-1, Susceptibility To
Hiv-1 Viremia, Susceptibility To	Human Immunodeficiency Virus Type 1, Susceptibility To
Hiv-1	Aids, Slow Progression To
Rapid Progression To Aids From Hiv1 Infection	Hiv1 Infection, Resistance To
Hiv1 Infection	Hiv-1 Viremia
Aids, Resistance To	Aids, Rapid Progression To
Hiv/Aids, Susceptibility To	Hiv-1, Resistance To
Hiv1, Resistance To	Hiv1
Hiv-1 Disease, Delayed Progression Of	Hiv-1 Disease, Rapid Progression Of
Hiv Infection, Resistance To	Hiv Type 1, Susceptibility To
Hiv Type 1	Hiv-1 Infection
Human Immunodeficiency Virus I Infection	Acquired Immunodeficiency Syndrome
Hiv-Infection/Aids

Reticulate Acropigmentation Of Kitamura

RAK	Acropigmentatio Reticularis
Reticulate Pigmentation Of Kitamura	Rpk
Kitamura Reticulate Acropigmentation	Rapk

Childhood Astrocytic Tumor

Juvenile Astrocytoma

Pediatric Astrocytoma

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Chilblain Lupus 1

Chilblain Lupus	CHBL1
Chilblain Lupus Erythematosus	Chle
Hutchinson Lupus	Chilblain Lupus, Type 1

Sting-Associated Vasculopathy With Onset In Infancy

Savi	Sting-Associated Vasculopathy, Infantile Onset
Sting-Associated Vasculopathy, Infantile-Onset

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Crv
Rvcl	Rvcl-S
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Retinal Vasculopathy With Cerebral Leukodystrophy	Retinal Vasculopathy And Cerebral Leukoencephalopathy
Hereditary Vascular Retinopathy	Hvr
RVCLS	Cerebroretinal Vasculopathy, Hereditary
Cerebroretinal Vasculopathy	Herns
Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly	Hereditary Cerebroretinal Vasculopathy
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke	Hereditary Systemic Angiopathy
Hsa	Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations
Adrvcl	Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy
Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke	Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Basal Ganglia Disease

Basal Ganglia Diseases	Basal Ganglia Disorders
Abnormality Of The Basal Ganglia

Basal Ganglia Calcification

Fahr'S Syndrome	Fahr'S Disease
Fahr Disease

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Torch Syndrome

Glioblastoma

Glioblastoma Multiforme	Gbm
Adult Glioblastoma Multiforme	Grade Iv Adult Astrocytic Tumor
Primary Glioblastoma Multiforme	Spongioblastoma Multiforme
Adult Glioblastoma	Primary Glioblastoma

Microphthalmia With Limb Anomalies

Waardenburg Anophthalmia Syndrome	Ophthalmoacromelic Syndrome
OAS	MLA
Anophthalmia-Syndactyly	Anophthalmia-Syndactyly Syndrome
Anophthalmos With Limb Anomalies	Anophthalmia Waardenburg Syndrome
Anophthalmos-Syndactyly	Ophthalmo-Acromelic Syndrome
Anophthalmia-Waardenburg Syndrome	Anophthalmos-Limb Anomalies Syndrome
Syndactyly-Anophthalmos Syndrome	Microphthalmia, With Limb Anomalies

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3	Methylmalonic Acidemia With Homocystinuria, Type Cblx
MAHCX	Intellectual Developmental Disorder, X-Linked 3
Xlid3	Mrx3
Methylmalonic Acidemia And Homocysteinemia Cblx Type	Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
Methylmalonic Aciduria With Homocystinuria, Type Cblx	Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Methylmalonic Aciduria And Homocysteinemia, Cblx Type	Methylmalonic Aciduria And Homocysteinemia , Cblx Type
Mental Retardation, X-Linked, Type 3

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115686	8-Azaadenosine	Inhibitor	99.97%	Unkown
HY-145443	Fludarabine-Cl		99.61%	Unkown
HY-145442	8-Azanebularine	Inhibitor	≥98.0%	Unkown
HY-RS00317	ADAR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ADAR	VGNC	VGNC:37612
Macaca mulatta	ADAR	VGNC	VGNC:69502
Bos taurus	ADAR	VGNC	VGNC:25635
Mus musculus	ADAR	MGD	MGI:1889575
Rattus norvegicus	ADAR	RGD	RGD:71099
Felis catus	ADAR	VGNC	VGNC:59606