ADA2 - adenosine deaminase 2 Gene

Homo sapiens

Also known as PAN; ADGF; CECR1; IDGFL; SNEDS; VAIHS

Gene ID: 51816 | Gene type: protein coding

About ADA2

Cytogenetic location: 22q11.1 Genomic coordinates (GRCh38): 22:17,178,790-17,221,848 (from NCBI)

This gene has 30 transcripts (splice variants), 239 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in spleen (RPKM 38.0), lymph node (RPKM 17.5) and 23 other tissues.

Summary

This gene encodes a member of a subfamily of the Adenosine Deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ADA2 Products(6)

mRNA	Protein	Name
NM_001282225.2	NP_001269154.1	adenosine deaminase 2 isoform a precursor
NM_001282226.2	NP_001269155.1	adenosine deaminase 2 isoform a precursor
NM_001282227.2	NP_001269156.1	adenosine deaminase 2 isoform c
NM_001282228.2	NP_001269157.1	adenosine deaminase 2 isoform c
NM_001282229.2	NP_001269158.1	adenosine deaminase 2 isoform d
NM_177405.3	NP_803124.1	adenosine deaminase 2 isoform b

ADA2 Protein Structure

A_deaminase_N

A_deaminase

0
100
200
300
400
511 a.a.

Protein Preferred Names

Protein Names

adenosine deaminase 2

adenosine deaminase CECR1

Recombinant ADA2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76250	CECR1 Protein, Human (sf9, His)	Q9NZK5-1 (I30-K511)	≥95%

Related Diseases

Diseases

Alias

Sneddon Syndrome

Livedo Reticularis And Cerebrovascular Accidents	SNDNS
Ehrmann-Sneddon Syndrome	Livedo Racemosa-Cerebrovascular Accident Syndrome
Livedo Reticularis-Cerebrovascular Accident Syndrome	Sneddon'S Syndrome
Idiopathic Livedo Reticularis With Systemic Involvement	Cerebro-Vascular Lesions And Livedo Reticularis
Livedo Racemosa And Cerebrovascular Accidents

Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome

Adenosine Deaminase 2 Deficiency	Dada2
Ada2 Deficiency	Vasculitis Due To Ada2 Deficiency
Polyarteritis Nodosa, Childhood-Onset	Pan
VAIHS	Childhood-Onset Polyarteritis Nodosa
Vasculitis Due To Dada2	Deficiency Of Ada2
Sneddon Syndrome	Polyarteritis Nodosa
Deficiency Of Adenosine Deaminase 2	Periarteritis Nodosa

Autoinflammatory Syndrome

Splenomegaly

Behcet Syndrome

Behcet Disease	Behcet'S Syndrome
Behcet'S Disease	Behçet Disease
Bd	Adamantiades-Behcet Disease
Triple Symptom Complex	Behçet'S Disease
Behet'S Syndrome	Bd Syndrome
Behçet Syndrome	Behçet'S Syndrome
Behcet Triple Symptom Complex	Malignant Aphthosis
Old Silk Route Disease	Adamantiades-Behçet Disease

Kaposi Sarcoma

Kaposi'S Sarcoma	Kaposi Sarcoma, Susceptibility To
Kaposi'S Sarcoma Of Lung	Kaposi'S Sarcoma Of Palate
Kaposi'S Sarcoma Of Soft Tissue	Kaposi'S Sarcoma-Associated Herpesvirus
Multiple Idiopathic Pigmented Hemangiosarcoma	Multiple Idiopathic Pigmented Hemangiosarcoma, Susceptibility To
African Lymphadenopathic Kaposi'S Sarcoma	Anal Kaposi'S Sarcoma
Cardiac Kaposi'S Sarcoma	Central Nervous System Kaposi'S Sarcoma
Conjunctival Kaposi'S Sarcoma	Corneal Kaposi'S Sarcoma
Cutaneous Kaposi'S Sarcoma	Esophageal Kaposi'S Sarcoma
Gallbladder Kaposi'S Sarcoma	Gastric Kaposi'S Sarcoma
Intestinal Kaposi'S Sarcoma	Kaposi'S Sarcoma Of Anus
Kaposi'S Sarcoma Of Central Nervous System	Kaposi'S Sarcoma Of Conjunctiva
Kaposi'S Sarcoma Of Cornea	Kaposi'S Sarcoma Of Esophagus
Kaposi'S Sarcoma Of Gastrointestinal Sites	Kaposi'S Sarcoma Of Heart
Kaposi'S Sarcoma Of Lymph Nodes	Kaposi'S Sarcoma Of Penis
Kaposi'S Sarcoma Of Skin	Kaposi'S Sarcoma Of Soft Tissues
Kaposi'S Sarcoma Of The Cns	Kaposi'S Sarcoma Of The Gallbladder
Kaposi'S Sarcoma Of The Prostate	Kaposi'S Sarcoma, Lung
Kaposi'S Sarcoma, Skin	Lymph Node Kaposi'S Sarcoma
Lymphadenopathic Kaposi'S Sarcoma	Palate Kaposi'S Sarcoma
Penis Kaposi'S Sarcoma	Prostate Kaposi'S Sarcoma
Pulmonary Kaposi'S Sarcoma	Soft Tissue Kaposi'S Sarcoma
Hhv8	Human Herpesvirus 8
Kshv	Kaposi Sarcoma Herpesvirus
Mediterranean Kaposi Sarcoma	Non Aids Related Kaposi Sarcoma
Sarcoma, Kaposi	Sarcoma, Kaposi, Susceptibility To
Non-Aids-Related Kaposi Sarcoma	Angiolymphoid Hyperplasia
Angiofollicular Ganglionic Hyperplasia	Multi-Centric Castleman'S Disease

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

Polyarteritis Nodosa

Polyarteritis	Periarteritis Nodosa
Pan	Periarteritis
Kussmaul-Maier Disease	Panarteritis Nodosa
Kussmaul Disease	Pan - [Polyarteritis Nodosa]
Polyangiitis	Panangiitis
Arteritis Nodosa

Cat Eye Syndrome

CES	Schmid-Fraccaro Syndrome
Chromosome 22 Partial Tetrasomy	Inv Dup(22)(Q11)
Cat-Eye Syndrome	Cess
Opitz Trigonocephaly Syndrome

Vasculitis

Angiitis	Autoimmune Vasculitis
Systemic Vasculitis	Vasculitis, Autoimmune

Microscopic Polyangiitis

Microscopic Polyarteritis	Mpa
Micropolyangiitis

Familial Cold Autoinflammatory Syndrome 4

FCAS4	Nlrc4-Related Familial Cold Autoinflammatory Syndrome
Nlrc4-Related Familial Cold Urticaria	Autoinflammatory, Cold, Familial, Syndrome, Type 4

Autoimmune Lymphoproliferative Syndrome

ALPS	Canale-Smith Syndrome
Autoimmune Lymphoproliferative Syndrome, Type Ia	Autoimmune Lymphoproliferative Syndrome, Type Ib
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant	Css
Autoimmune Lymphoproliferative Syndrome, Type 1b	Autoimmune Lymphoproliferative Syndrome, Type 1a
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant	Fas Deficiency
Autoimmune Lymphoproliferative Syndrome 1a	ALPS1A
Autoimmune Lymphoproliferative Syndrome Type Ia	Autoimmune Lymphoproliferative Syndrome 1b
ALPS1B	Autoimmune Lymphoproliferative Syndrome Type Ib

Granulomatosis With Polyangiitis

GPA	Wegener Granulomatosis
Wegener Granulomatosis, Formerly	Midline Granulomatosis
Wg, Formerly	Necrotizing Respiratory Granulomatosis
Wg	Wegeners Granulomatosis
Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Pure Red-Cell Aplasia

Pure Red Cell Aplasia	Primary Red Cell Aplasia
Red Cell Hypoplasia	Prca
Red-Cell Aplasia Pure	Red-Cell Aplasia, Pure

Livedoid Vasculitis

Livedoid Vasculopathy	Livedo Reticularis With Summer Ulcerations
Livedo Vasculitis	Livedo Reticularis With Winter Ulcerations
Segmental Hyalinizing Vasculopathy	Milian Atrophie Blanche
Segmental Hyalinizing Vasculitis	Livedo Reticularis With Summer Ulceration

Cerebrovascular Disease

Cerebrovascular Disorder	Cerebrovascular Accident
Cerebrovascular Disorders	Cva
Stroke

Lymphoproliferative Syndrome

Lymphoproliferative Disorder	Lymphoproliferative Disorders
Lymphoproliferative Disorders, Susceptibility To

Testicular Infarct

Infarction Of Testis

Testicular Infarction

Immunodeficiency 31a

Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency	IMD31A
Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant	Stat1 Deficiency, Autosomal Dominant
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency	Msmd Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency
Msmd Due To Partial Stat1 Deficiency	Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis
Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant

Mononeuritis Multiplex

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD	Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Sifd Syndrome

Mononeuritis Of Upper Limb And Mononeuritis Multiplex

Erythema Elevatum Diutinum

Noonan Syndrome-Like Disorder With Loose Anagen Hair

Noonan-Like Syndrome With Loose Anagen Hair	Mazzanti Syndrome
Ns/Lah

Central Retinal Artery Occlusion

Immunodeficiency 31c

IMD31C	Candidiasis, Familial, 7
Candf7	Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome
Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant	Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis
Autosomal Dominant Immunodeficiency 31c	Familial Candidiasis 7
Chronic Mucocutaneous Candidiasis 7	Immunodeficiency 31c, Autosomal Dominant
Immunodeficiency, Type 31c, Autosomal Dominant

Diamond-Blackfan Anemia 1

Aase Syndrome	DBA1
Erythrogenesis Imperfecta	Aase-Smith Syndrome Ii
Dba	Blackfan-Diamond Syndrome
Bds	Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
Anemia, Congenital Erythroid Hypoplastic	Red Cell Aplasia, Pure, Hereditary
Aregenerative Anemia, Chronic Congenital	Rps19-Related Diamond-Blackfan Anemia
Chronic Congenital Aregenerative Anemia	Congenital Erythroid Hypoplastic Anemia
Congenital Hypoplastic Anemia Of Blackfan And Diamond	Pure Hereditary Red Cell Aplasia
Anemia, Diamond-Blackfan, Type 1	Anemia, Diamond-Blackfan
Aase Smith Syndrome 2	Familial Hypoplastic Anaemia With Malformations
Constitutional Pure Red Cell Aplasia

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

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-RS00261	ADA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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