1. Gene
  2. ADA2 - adenosine deaminase 2 Gene

ADA2 - adenosine deaminase 2 Gene

中文名称:腺苷脱氨酶 2

种属: Homo sapiens

同用名: PAN; ADGF; CECR1; IDGFL; SNEDS; VAIHS

基因 ID: 51816 | 基因类型: protein coding

关于 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.

功能概要

该基因编码腺苷脱氨酶蛋白家族的一个亚家族成员。编码的蛋白质是人体中发现的两种腺苷脱氨酶之一,可调节信号分子腺苷的水平。所编码的蛋白质从经历分化的单核细胞中分泌出来,可以调节细胞增殖和分化。该基因可能与猫眼综合征相关的某些表型特征有关。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables adenosine deaminase activity IDA
IDA: 通过直接分析推断
20147294 GOA
enables adenosine receptor binding IDA
IDA: 通过直接分析推断
20147294 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
20147294 GOA
enables proteoglycan binding IDA
IDA: 通过直接分析推断
20147294 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
20147294 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adenosine catabolic process IDA
IDA: 通过直接分析推断
20147294 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
20147294 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ADA2 蛋白结构

A_deaminase_N

A_deaminase_N: Adenosine/AMP deaminase N-terminal (25 - 102)

A_deaminase

A_deaminase: Adenosine/AMP deaminase (105 - 493)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 511 a.a.
蛋白主名 其他名称

adenosine deaminase 2

adenosine deaminase CECR1

重组 ADA2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76250 CECR1 Protein, Human (sf9, His) Q9NZK5-1 (I30-K511) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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