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  2. ALDH1A2 - aldehyde dehydrogenase 1 family member A2 Gene

ALDH1A2 - aldehyde dehydrogenase 1 family member A2 Gene

中文名称:醛脱氢酶 1 家族成员 A2

种属: Homo sapiens

同用名: DIH4; RALDH2; RALDH2-T; RALDH(II)

基因 ID: 8854 | 基因类型: protein coding

关于 ALDH1A2

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:57,953,429-58,065,711 (from NCBI)

This gene has 25 transcripts (splice variants), 219 orthologues, 17 paralogues and is associated with 1 phenotype. Biased expression in endometrium (RPKM 50.6), testis (RPKM 38.7) and 8 other tissues.

功能概要

这种蛋白质属于蛋白质的醛脱氢酶家族。该基因的产物是一种酶,可催化视黄醛合成视黄酸 (RA) 。视黄酸是维生素 A (视黄醇) 的活性衍生物,是一种激素信号分子,在发育和成人组织中发挥作用。对类似小鼠基因的研究表明,这种酶和细胞色素 CYP26A1 同时建立局部胚胎视黄酸水平,促进后部器官发育并预防脊柱裂。已经为该基因鉴定了编码不同亚型的四种转录物变体。[RefSeq 提供,2011 年 5 月]

This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an Enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this Enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]

ALDH1A2 基因产物(4)

mRNA Protein Name
NM_001206897.2 NP_001193826.1 retinal dehydrogenase 2 isoform 4
NM_003888.4 NP_003879.2 retinal dehydrogenase 2 isoform 1
NM_170696.3 NP_733797.1 retinal dehydrogenase 2 isoform 2
NM_170697.3 NP_733798.1 retinal dehydrogenase 2 isoform 3
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 retinal dehydrogenase activity IDA
IDA: 通过直接分析推断
29240402 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
16166285 GOA
involved in neural tube development IMP
IMP: 通过突变表型推断
16237707 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
29240402 GOA
involved in response to cytokine IDA
IDA: 通过直接分析推断
18495959 GOA
involved in response to retinoic acid IMP
IMP: 通过突变表型推断
33565183 GOA
involved in retinoic acid biosynthetic process IDA
IDA: 通过直接分析推断
29240402 GOA
involved in retinoic acid biosynthetic process IMP
IMP: 通过突变表型推断
33565183 GOA
involved in retinoic acid metabolic process IMP
IMP: 通过突变表型推断
33565183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
18495959 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

ALDH1A2 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (46 - 509)

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

retinal dehydrogenase 2

RALDH 2

重组 ALDH1A2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7475 ALDH1A2 Protein, Human (His) O94788 (M1-S518) ≥95%
HY-P700646 ALDH1A2 Protein, Human (P.pastoris, His) O94788 (M1-S518) ≥95%

关联疾病

疾病名称 别名
Diaphragmatic Hernia 4, With Cardiovascular Defects

DIH4

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Microphthalmia, Syndromic 9

Matthew-Wood Syndrome

Spear Syndrome

Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

Microphthalmia, Isolated, With Coloboma 8

MCOPS9

Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

Pdac

Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

Pmd

Syndromic Microphthalmia 9

Anophthalmia-Pulmonary Hypoplasia Syndrome

Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

Microphthalmia Syndromic 9

Matthew Wood Syndrome

Pdac Syndrome

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

Microphthalmia, Isolated, With Coloboma, 8

MCOPCB8

Isolated Colobomatous Microphthalmia 8

Microphthalmia, Syndromic, 9

Anophthalmia With Pulmonary Hypoplasia

Microphthalmia Syndromic, Type 9

Anophthalmia And Pulmonary Hypoplasia

Diaphragm Disease

Abnormality Of The Diaphragm

Disease Of Diaphragm

Diaphragmatic Disorder

Disorder Of Diaphragm

Holoprosencephaly 7

HPE7

Holoprosencephaly-7

Holoprosencephaly, Type 7

Syndactyly, Type V

Syndactyly Type 5

SDTY5

Syndactyly With Metacarpal And Metatarsal Fusion

Syndactyly With Associated Metacarpal And Metatarsal Fusion

Postaxial Syndactyly With Metacarpal Synostosis

Sd5

Syndactyly 5

Syndactyly Type V

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria

Ssadh Deficiency

Gamma-Hydroxybutyric Aciduria

Gaba Metabolic Defect

SSADHD

Ssadh

Succinate-Semialdehyde Dehydrogenase Deficiency

Gamma-Hydroxybutyricaciduria

4-Hydroxybutyricaciduria

Gamma-Hydroxybutyric Acidemia

Succinate Semialdehyde Dehydrogenase Deficiency

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorders

Fetal Alcohol Syndrome

Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

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

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]

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ALDH1A2 RGD RGD:620250
Canis familiaris ALDH1A2 VGNC VGNC:37783
Mus musculus ALDH1A2 MGD MGI:107928
Macaca mulatta ALDH1A2 VGNC VGNC:81352
Bos taurus ALDH1A2 VGNC VGNC:25809
Others ALDH1A2 NCBI