ADA2 - adenosine deaminase 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51816

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables adenosine deaminase activity	IDA IDA: Inferred from direct assay	20147294	GOA
enables adenosine receptor binding	IDA IDA: Inferred from direct assay	20147294	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	20147294	GOA
enables proteoglycan binding	IDA IDA: Inferred from direct assay	20147294	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	20147294	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in adenosine catabolic process	IDA IDA: Inferred from direct assay	20147294	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	20147294	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

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)	≥ 90%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P11846	ADA2	Ligand	/	Unkown
HY-RS00261	ADA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14154	TADA2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown