ALDH1A2 | ENSG00000128918 | NCBI 8854

Details for: ALDH1A2

Gene ID: 8854

Symbol: ALDH1A2

Ensembl ID: ENSG00000128918

Description: aldehyde dehydrogenase 1 family member A2

Associated with

Ra biosynthesis pathway
(R-HSA-5365859)
Signaling by nuclear receptors
(R-HSA-9006931)
Signaling by retinoic acid
(R-HSA-5362517)
Signal transduction
(R-HSA-162582)
3-chloroallyl aldehyde dehydrogenase activity
(GO:0004028)
9-cis-retinoic acid biosynthetic process
(GO:0042904)
Aldehyde dehydrogenase (nad+) activity
(GO:0004029)
Blood vessel development
(GO:0001568)
Cardiac muscle tissue development
(GO:0048738)
Cell population proliferation
(GO:0008283)
Cellular response to retinoic acid
(GO:0071300)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Determination of bilateral symmetry
(GO:0009855)
Embryonic camera-type eye development
(GO:0031076)
Embryonic digestive tract development
(GO:0048566)
Embryonic forelimb morphogenesis
(GO:0035115)
Face development
(GO:0060324)
Heart morphogenesis
(GO:0003007)
Hindbrain development
(GO:0030902)
Kidney development
(GO:0001822)
Liver development
(GO:0001889)
Lung development
(GO:0030324)
Midgut development
(GO:0007494)
Morphogenesis of embryonic epithelium
(GO:0016331)
Negative regulation of cell population proliferation
(GO:0008285)
Neural crest cell development
(GO:0014032)
Neural tube development
(GO:0021915)
Neuron differentiation
(GO:0030182)
Pancreas development
(GO:0031016)
Perinuclear region of cytoplasm
(GO:0048471)
Pituitary gland development
(GO:0021983)
Positive regulation of apoptotic process
(GO:0043065)
Positive regulation of cell population proliferation
(GO:0008284)
Positive regulation of gene expression
(GO:0010628)
Protein homotetramerization
(GO:0051289)
Proximal/distal pattern formation
(GO:0009954)
Regulation of vascular endothelial cell proliferation
(GO:1905562)
Response to cytokine
(GO:0034097)
Response to estradiol
(GO:0032355)
Response to retinoic acid
(GO:0032526)
Response to vitamin a
(GO:0033189)
Retinal binding
(GO:0016918)
Retinal dehydrogenase activity
(GO:0001758)
Retinal metabolic process
(GO:0042574)
Retinoic acid biosynthetic process
(GO:0002138)
Retinoic acid metabolic process
(GO:0042573)
Retinoic acid receptor signaling pathway involved in somitogenesis
(GO:0090242)
Retinol metabolic process
(GO:0042572)
Ureter maturation
(GO:0035799)
Vitamin a metabolic process
(GO:0006776)

Other Information

Proteins

Retinal dehydrogenase 2

Genular Protein ID: 1459350135

Symbol: AL1A2_HUMAN

Name: Retinal dehydrogenase 2

UniProtKB Accession Codes:

O94788 B3KY52 B4DZR2 F5H2Y9 H0YM00 Q2PJS6 Q8NHQ4 Q9UBR8 Q9UFY0

Database IDs:

Citations:

PubMed ID: 9819382

Title: TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3.

PubMed ID: 9819382

DOI: 10.1128/mcb.18.12.6939

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 22075477

Title: Initiating meiosis: the case for retinoic acid.

PubMed ID: 22075477

DOI: 10.1095/biolreprod.111.096610

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 33565183

Title: Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.

PubMed ID: 33565183

DOI: 10.1002/humu.24179

PubMed ID: 29240402

Title: Structural Basis of ALDH1A2 Inhibition by Irreversible and Reversible Small Molecule Inhibitors.

PubMed ID: 29240402

DOI: 10.1021/acschembio.7b00685

PubMed ID: 36263470

Title: ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.

PubMed ID: 36263470

DOI: 10.1002/ajmg.a.62991

Sequence Information:

Length: 518
Mass: 56724
Checksum: AAEE7A886951373F
Sequence:

MTSSKIEMPG EVKADPAALM ASLHLLPSPT PNLEIKYTKI FINNEWQNSE SGRVFPVYNP 
ATGEQVCEVQ EADKADIDKA VQAARLAFSL GSVWRRMDAS ERGRLLDKLA DLVERDRAVL 
ATMESLNGGK PFLQAFYVDL QGVIKTFRYY AGWADKIHGM TIPVDGDYFT FTRHEPIGVC 
GQIIPWNFPL LMFAWKIAPA LCCGNTVVIK PAEQTPLSAL YMGALIKEAG FPPGVINILP 
GYGPTAGAAI ASHIGIDKIA FTGSTEVGKL IQEAAGRSNL KRVTLELGGK SPNIIFADAD 
LDYAVEQAHQ GVFFNQGQCC TAGSRIFVEE SIYEEFVRRS VERAKRRVVG SPFDPTTEQG 
PQIDKKQYNK ILELIQSGVA EGAKLECGGK GLGRKGFFIE PTVFSNVTDD MRIAKEEIFG 
PVQEILRFKT MDEVIERANN SDFGLVAAVF TNDINKALTV SSAMQAGTVW INCYNALNAQ 
SPFGGFKMSG NGREMGEFGL REYSEVKTVT VKIPQKNS

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ALDH1A2

Associated with

Other Information

TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3. PubMed ID: 9819382

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Analysis of the DNA sequence and duplication history of human chromosome 15. PubMed ID: 16572171

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

Initiating meiosis: the case for retinoic acid. PubMed ID: 22075477

Initial characterization of the human central proteome. PubMed ID: 21269460

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. PubMed ID: 33565183

Structural Basis of ALDH1A2 Inhibition by Irreversible and Reversible Small Molecule Inhibitors. PubMed ID: 29240402

ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway. PubMed ID: 36263470