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AKR7A2 aldo-keto reductase family 7 member A2 [ Homo sapiens (human) ]

Gene ID: 8574, updated on 11-Apr-2024

Summary

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Official Symbol
AKR7A2provided by HGNC
Official Full Name
aldo-keto reductase family 7 member A2provided by HGNC
Primary source
HGNC:HGNC:389
See related
Ensembl:ENSG00000053371 MIM:603418; AllianceGenome:HGNC:389
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AFAR; AKR7; AFAR1; AFB1-AR1
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 26.6), duodenum (RPKM 20.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19302708..19312146, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19126242..19135681, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19629202..19638640, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19610121-19610996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19614497-19615319 Neighboring gene uncharacterized LOC124903867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19615320-19616141 Neighboring gene aldo-keto reductase family 7 member A3 Neighboring gene uncharacterized LOC100506730 Neighboring gene RNA, U6 small nuclear 1099, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19638229-19638728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19641943-19642442 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19644916-19645106 Neighboring gene solute carrier family 66 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19661163-19661664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19661665-19662164 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19663848-19664812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19665979-19666480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19667246-19668220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 299 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19679737-19680421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19682496-19682996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19682997-19683497 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19685462-19685962 Neighboring gene capping actin protein of muscle Z-line subunit beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19696541-19697233 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 301 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:19727675-19728354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19729033-19729710 Neighboring gene uncharacterized LOC124903868

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Insights into the transcriptional regulation of the anthracycline reductase AKR7A2 in human cardiomyocytes. Quiñones-Lombraña A, et al. Toxicol Lett, 2019 Jun 1. PMID 30817976, Free PMC Article
  2. Genetic variation of Aflatoxin B1 aldehyde reductase genes (AFAR) in human tumour cells. Praml C, et al. Cancer Lett, 2008 Dec 8. PMID 18752886
  3. Synthesis and catabolism of gamma-hydroxybutyrate in SH-SY5Y human neuroblastoma cells: role of the aldo-keto reductase AKR7A2. Lyon RC, et al. J Biol Chem, 2007 Sep 7. PMID 17591773
  4. Cloning of the human aflatoxin B1-aldehyde reductase gene at 1p35-1p36.1 in a region frequently altered in human tumor cells. Praml C, et al. Cancer Res, 1998 Nov 15. PMID 9823300
  5. Nrf2-mediated adaptive response to methyl glyoxal in HepG2 cells involves the induction of AKR7A2. Li D, et al. Chem Biol Interact, 2015 Jun 5. PMID 25451587

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. expression in cardiomyocytes is mediated by NF-kappaB through conserved response elements in the proximal gene promoter region
    Title: Insights into the transcriptional regulation of the anthracycline reductase AKR7A2 in human cardiomyocytes.
  2. AKR7A2 physically interacts with CYGB.
    Title: The identification of human aldo-keto reductase AKR7A2 as a novel cytoglobin-binding partner.
  3. induced expression in human monocytes following exposure to Aflatoxin B1
    Title: GST-M1 is transcribed moreso than AKR7A2 in AFB₁-exposed human monocytes and lymphocytes.
  4. AKR7A2 contributes to protection against MG-induced toxicity.
    Title: Nrf2-mediated adaptive response to methyl glyoxal in HepG2 cells involves the induction of AKR7A2.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
  6. The human AFAR gene family maps to a genomic region in 1p36 of frequent hemizygous deletions in various human cancers.
    Title: Genetic variation of Aflatoxin B1 aldehyde reductase genes (AFAR) in human tumour cells.
  7. Aflatoxin B(1) aldehyde reductase (AKR7A2) was confirmed to be only highly expressed in pancreatic cancer, not in normal adjacent pancreas and benign tumors.
    Title: Proteomic analysis of pancreatic ductal adenocarcinoma compared with normal adjacent pancreatic tissue and pancreatic benign cystadenoma.
  8. The human aldo-keto reductase AKR7A2 has been proposed previously to catalyze the NADPH-dependent reduction of succinic semialdehyde (SSA) to gamma-Hydroxybutyrate in human brain
    Title: Synthesis and catabolism of gamma-hydroxybutyrate in SH-SY5Y human neuroblastoma cells: role of the aldo-keto reductase AKR7A2.
  9. structure and tissue-related expression of AFAR genes on chromosome 1
    Title: Aflatoxin B1 aldehyde reductase (AFAR) genes cluster at 1p35-1p36.1 in a region frequently altered in human tumour cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aldo-keto reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldose reductase (NADPH) activity TAS
Traceable Author Statement
more info
 PubMed 
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables phenanthrene-9,10-epoxide hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular aldehyde metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
aflatoxin B1 aldehyde reductase member 2
Names
AFB1 aldehyde reductase 1
AFB1-AR 1
HEL-S-166mP
SSA reductase
aflatoxin aldehyde reductase
aflatoxin beta1 aldehyde reductase
aldoketoreductase 7
epididymis secretory sperm binding protein Li 166mP
succinic semialdehyde reductase
NP_001307908.1
NP_003680.2
XP_047289051.1
XP_054195323.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320979.1 → NP_001307908.1  aflatoxin B1 aldehyde reductase member 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK303131, AL035413, BG386786, BX401279
    UniProtKB/TrEMBL
    H3BLU7
    Related
    ENSP00000339084.4, ENST00000330072.9
    Conserved Domains (2) summary
    cd06660
    Location:26 → 311
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    COG0667
    Location:42 → 320
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

  2. NM_003689.4 → NP_003680.2  aflatoxin B1 aldehyde reductase member 2 isoform 1

    See identical proteins and their annotated locations for NP_003680.2

    Status: REVIEWED

    Source sequence(s)
    AL035413
    Consensus CDS
    CCDS194.1
    UniProtKB/Swiss-Prot
    O43488, O75749, Q5TG63
    UniProtKB/TrEMBL
    H3BLU7, V9HWA2
    Related
    ENSP00000235835.3, ENST00000235835.8
    Conserved Domains (2) summary
    cd06660
    Location:26 → 346
    Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    COG0667
    Location:42 → 355
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    19302708..19312146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433095.1 → XP_047289051.1  aflatoxin B1 aldehyde reductase member 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    19126242..19135681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339348.1 → XP_054195323.1  aflatoxin B1 aldehyde reductase member 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43488.3 GenPept UniProtKB/Swiss-Prot:O43488

Gene LinkOut

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