The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehy... See more...

Aliases for AKR7A2 Gene

Aliases for AKR7A2 Gene

  • Aldo-Keto Reductase Family 7 Member A2 2 3 5
  • Aflatoxin B1 Aldehyde Reductase Member 2 3 4
  • Succinic Semialdehyde Reductase 3 4
  • Aflatoxin Aldehyde Reductase 2 3
  • AFB1 Aldehyde Reductase 1 3 4
  • Aldoketoreductase 7 3 4
  • SSA Reductase 3 4
  • AFB1-AR 1 3 4
  • AFAR1 3 4
  • AFAR 3 4
  • AKR7 3 4
  • Epididymis Secretory Sperm Binding Protein Li 166mP 3
  • Aflatoxin Beta1 Aldehyde Reductase 3
  • EC 1.1.1.n11 4
  • HEL-S-166mP 3
  • AFB1-AR1 3

External Ids for AKR7A2 Gene

Previous GeneCards Identifiers for AKR7A2 Gene

  • GC01M019169
  • GC01M018618
  • GC01M018755
  • GC01M019101
  • GC01M019102
  • GC01M019375
  • GC01M019503
  • GC01M019630
  • GC01M017876

Summaries for AKR7A2 Gene

Entrez Gene Summary for AKR7A2 Gene

  • The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for AKR7A2 Gene

AKR7A2 (Aldo-Keto Reductase Family 7 Member A2) is a Protein Coding gene. Diseases associated with AKR7A2 include Gamma-Amino Butyric Acid Metabolism Disorder and Succinic Semialdehyde Dehydrogenase Deficiency. Among its related pathways are Drug metabolism - cytochrome P450 and Naphthalene metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and phenanthrene-9,10-epoxide hydrolase activity. An important paralog of this gene is AKR7L.

UniProtKB/Swiss-Prot Summary for AKR7A2 Gene

  • Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen.

Gene Wiki entry for AKR7A2 Gene

Additional gene information for AKR7A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKR7A2 Gene

Genomics for AKR7A2 Gene

GeneHancer (GH) Regulatory Elements for AKR7A2 Gene

Promoters and enhancers for AKR7A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J019310 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 760.3 -1.3 -1269 6.8 SP1 ZBTB40 ZBTB6 SMARCE1 POLR2A USF2 HCFC1 ETV6 RELA RBM39 AKR7A2 SLC66A1 UBR4 EMC1 OTUD3 AKR7L RF00017-089 lnc-AKR7A2-1
GH01J019341 Enhancer 1.1 Ensembl ENCODE dbSUPER 22.5 -29.0 -28996 3.1 CTCF RAD21 ZNF121 ZIC2 REST TRIM22 ZNF143 POLR2A NRF1 ZXDB AKR7A2 SLC66A1 RNU6-1099P RNU4-28P CAPZB MRTO4 lnc-AKR7A2-2 lnc-PQLC2-1
GH01J019404 Enhancer 1 ENCODE dbSUPER 21.1 -94.3 -94291 3.9 SMARCE1 DACH1 TEAD4 CBFA2T2 SMARCA4 HNRNPUL1 TRIM24 IKZF1 DPF2 ZBTB33 CAPZB AKR7A2 UBR4 SLC66A1 RNU6-1099P NBL1 RNU4-28P EMC1 lnc-PQLC2-5 RF00017-090
GH01J019432 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -126.3 -126299 12.6 LCORL MLX RBPJ SMARCE1 NR2F6 CREB1 MIXL1 RAD21 ZNF121 TEAD4 CAPZB EMC1 NBL1 RNU4-28P HTR6 AKR7A2 OTUD3 AKR7A3 lnc-PQLC2-5 RN7SL277P
GH01J019336 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.8 -26.1 -26055 2.4 RBPJ MIXL1 NFYC HLF RAD21 CTCF ELF3 AHR SP1 CEBPG SLC66A1 AKR7A2 RNU6-1099P RNU4-28P CAPZB lnc-PQLC2-1 lnc-AKR7A2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKR7A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AKR7A2 gene promoter:
  • AML1a
  • ATF6
  • CP2
  • CUTL1
  • Egr-4
  • GATA-2
  • Ik-1
  • Lmo2
  • RP58
  • YY1

Genomic Locations for AKR7A2 Gene

Genomic Locations for AKR7A2 Gene
chr1:19,302,708-19,312,146
(GRCh38/hg38)
Size:
9,439 bases
Orientation:
Minus strand
chr1:19,630,459-19,638,640
(GRCh37/hg19)
Size:
8,182 bases
Orientation:
Minus strand

Genomic View for AKR7A2 Gene

Genes around AKR7A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR7A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKR7A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR7A2 Gene

Proteins for AKR7A2 Gene

  • Protein details for AKR7A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43488-ARK72_HUMAN
    Recommended name:
    Aflatoxin B1 aldehyde reductase member 2
    Protein Accession:
    O43488
    Secondary Accessions:
    • O75749
    • Q5TG63

    Protein attributes for AKR7A2 Gene

    Size:
    359 amino acids
    Molecular mass:
    39589 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAC52104.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH04111.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH10852.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH11586.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH12171.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH13996.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP36011.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA76347.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AKR7A2 Gene

neXtProt entry for AKR7A2 Gene

Post-translational modifications for AKR7A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR7A2 Gene

No data available for DME Specific Peptides for AKR7A2 Gene

Domains & Families for AKR7A2 Gene

Gene Families for AKR7A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AKR7A2 Gene

Suggested Antigen Peptide Sequences for AKR7A2 Gene

GenScript: Design optimal peptide antigens:
  • Succinic semialdehyde reductase (ARK72_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43488

UniProtKB/Swiss-Prot:

ARK72_HUMAN :
  • Belongs to the aldo/keto reductase family. Aldo/keto reductase 2 subfamily.
Family:
  • Belongs to the aldo/keto reductase family. Aldo/keto reductase 2 subfamily.
genes like me logo Genes that share domains with AKR7A2: view

Function for AKR7A2 Gene

Molecular function for AKR7A2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4-hydroxybutanoate + NADP(+) = H(+) + NADPH + succinate semialdehyde; Xref=Rhea:RHEA:26381, ChEBI:CHEBI:15378, ChEBI:CHEBI:16724, ChEBI:CHEBI:57706, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.n11; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=20 uM for succinic semialdehyde {ECO:0000269 PubMed:10510318}; KM=17 uM for 2-carboxybenzaldehyde {ECO:0000269 PubMed:10510318}; KM=8 uM for 9,10-phenanthrenequinone {ECO:0000269 PubMed:10510318}; KM=102 uM for 1,2-naphthoquinone {ECO:0000269 PubMed:10510318};
GENATLAS Biochemistry:
aldo-ketoreductase 7,homolog of rattus norvegicus gene,expressed in brain,heart,lung,prostate,skeletal,muscle,spleen,testis,stomach,pancreas,kidney,liver,also expressed in renal carcinoma cells,involved in endogenous detoxication pathway,catalyzing the recuction of 2-carboxybenzaldehyde (2-CBA) and related molecules

Enzyme Numbers (IUBMB) for AKR7A2 Gene

Phenotypes From GWAS Catalog for AKR7A2 Gene

Gene Ontology (GO) - Molecular Function for AKR7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity TAS 9576847
GO:0005515 protein binding IPI 16189514
GO:0009055 electron transfer activity TAS 9576847
GO:0016491 oxidoreductase activity IEA --
GO:0019119 phenanthrene-9,10-epoxide hydrolase activity IDA 20837989
genes like me logo Genes that share ontologies with AKR7A2: view
genes like me logo Genes that share phenotypes with AKR7A2: view

Animal Models for AKR7A2 Gene

MGI Knock Outs for AKR7A2:
  • Akr7a5 Akr7a5<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for AKR7A2 Gene

miRTarBase miRNAs that target AKR7A2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR7A2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKR7A2 Gene

Localization for AKR7A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR7A2 Gene

Golgi apparatus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKR7A2 gene
Compartment Confidence
cytosol 5
golgi apparatus 3
mitochondrion 2
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AKR7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS,IDA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with AKR7A2: view

Pathways & Interactions for AKR7A2 Gene

genes like me logo Genes that share pathways with AKR7A2: view

Pathways by source for AKR7A2 Gene

2 BioSystems pathways for AKR7A2 Gene
1 PharmGKB pathway for AKR7A2 Gene
1 KEGG pathway for AKR7A2 Gene
1 GeneGo (Thomson Reuters) pathway for AKR7A2 Gene

Gene Ontology (GO) - Biological Process for AKR7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 9576847
GO:0006081 cellular aldehyde metabolic process TAS 9576847
GO:0006805 xenobiotic metabolic process TAS --
GO:0022900 electron transport chain IEA --
GO:0044597 daunorubicin metabolic process IMP 20837989
genes like me logo Genes that share ontologies with AKR7A2: view

No data available for SIGNOR curated interactions for AKR7A2 Gene

Drugs & Compounds for AKR7A2 Gene

(1) Drugs for AKR7A2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Hydroxybutyric acid Approved, Illicit, Investigational Pharma Full agonist, Agonist 0

(11) Additional Compounds for AKR7A2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Aflatoxin B1
  • AFB1
  • AFBI
  • HSDB-3453
  • Aflatoxin b
  • Aflatoxin b1, (6ar-cis)-isomer, 14C-labeled
1162-65-8
Aflatoxin B1 dialcohol
  • AFB1 dialcohol
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Succinic acid semialdehyde
  • 3-Formylpropanoic acid
  • 3-Formylpropionic acid
  • 4-Oxobutanoate
  • beta-Formylpropionic acid
  • Semialdehyde succinique
692-29-5
genes like me logo Genes that share compounds with AKR7A2: view

Transcripts for AKR7A2 Gene

mRNA/cDNA for AKR7A2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR7A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKR7A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for AKR7A2 Gene

GeneLoc Exon Structure for
AKR7A2
ECgene alternative splicing isoforms for
AKR7A2

Expression for AKR7A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKR7A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKR7A2 Gene



Protein tissue co-expression partners for AKR7A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKR7A2 Gene:

AKR7A2

SOURCE GeneReport for Unigene cluster for AKR7A2 Gene:

Hs.571886

mRNA Expression by UniProt/SwissProt for AKR7A2 Gene:

O43488-ARK72_HUMAN
Tissue specificity: Detected in brain, liver, small intestine and testis, and at lower levels in heart, prostate, skeletal muscle and spleen. Detected in kidney proximal and distal tubules, endothelial cells lining the Bowman's capsules and some cysts. Detected at low levels in lung and pancreas (at protein level). Widely expressed.

Evidence on tissue expression from TISSUES for AKR7A2 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Skin(4.3)
  • Pancreas(4.2)
  • Gall bladder(2.2)
  • Kidney(2.2)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with AKR7A2: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKR7A2 Gene

Orthologs for AKR7A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AKR7A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKR7A2 33 32
  • 98.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKR7A2 32
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia Akr7a2 32
  • 86.81 (n)
cow
(Bos Taurus)
Mammalia AKR7A2 32
  • 86.41 (n)
-- 33
  • 81 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Akr7a5 17 32
  • 85.98 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves AKR7A2 32
  • 73.23 (n)
-- 33
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia akr7a2 32
  • 70.23 (n)
zebrafish
(Danio rerio)
Actinopterygii akr7a3 33 32
  • 68.67 (n)
OneToMany
wufb48h07 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11179 32
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 33
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 52 (a)
OneToMany
Species where no ortholog for AKR7A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKR7A2 Gene

ENSEMBL:
Gene Tree for AKR7A2 (if available)
TreeFam:
Gene Tree for AKR7A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKR7A2: view image

Paralogs for AKR7A2 Gene

(2) SIMAP similar genes for AKR7A2 Gene using alignment to 4 proteins:

  • ARK72_HUMAN
  • H3BLU7_HUMAN
  • H7C4Q7_HUMAN
  • H7C5H7_HUMAN

Pseudogenes.org Pseudogenes for AKR7A2 Gene

genes like me logo Genes that share paralogs with AKR7A2: view

Variants for AKR7A2 Gene

Sequence variations from dbSNP and Humsavar for AKR7A2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000083657 -- 19,310,817(-) T/G intron_variant
rs1000348737 -- 19,304,993(-) T/G intron_variant
rs1000444243 -- 19,310,455(-) T/C intron_variant
rs1000538528 -- 19,311,456(-) G/C intron_variant
rs1000665176 -- 19,306,125(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for AKR7A2 Gene

Variant ID Type Subtype PubMed ID
nsv945808 CNV duplication 23825009

Variation tolerance for AKR7A2 Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.01; 80.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKR7A2 Gene

Human Gene Mutation Database (HGMD)
AKR7A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR7A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR7A2 Gene

Disorders for AKR7A2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AKR7A2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
gamma-amino butyric acid metabolism disorder
  • disorder of gamma-aminobutyric acid metabolism
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
contagious pustular dermatitis
  • ecthyma contagiosum
urinary schistosomiasis
  • bladder schistosomiasis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AKR7A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AKR7A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKR7A2 Gene

Publications for AKR7A2 Gene

  1. Molecular cloning, expression and catalytic activity of a human AKR7 member of the aldo-keto reductase superfamily: evidence that the major 2-carboxybenzaldehyde reductase from human liver is a homologue of rat aflatoxin B1-aldehyde reductase. (PMID: 9576847) Ireland LS … Hayes JD (The Biochemical journal 1998) 2 3 4 23 56
  2. Genetic variation of Aflatoxin B1 aldehyde reductase genes (AFAR) in human tumour cells. (PMID: 18752886) Praml C … Henrich KO (Cancer letters 2008) 3 4 23 56
  3. Novel homodimeric and heterodimeric rat gamma-hydroxybutyrate synthases that associate with the Golgi apparatus define a distinct subclass of aldo-keto reductase 7 family proteins. (PMID: 12071861) Kelly VP … Hayes JD (The Biochemical journal 2002) 3 4 23 56
  4. Cloning of the human aflatoxin B1-aldehyde reductase gene at 1p35-1p36.1 in a region frequently altered in human tumor cells. (PMID: 9823300) Praml C … Schwab M (Cancer research 1998) 3 4 23 56
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56

Products for AKR7A2 Gene

Sources for AKR7A2 Gene