AKR7A2

aldo-keto reductase family 7 member A2, the group of Aldo-keto reductases

Basic information

Region (hg38): 1:19303964-19312144

Links

ENSG00000053371 ∙ NCBI:8574 ∙ OMIM:603418 ∙ HGNC:389 ∙ Uniprot:O43488 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AKR7A2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR7A2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			21	2	1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	1

Variants in AKR7A2

This is a list of pathogenic ClinVar variants found in the AKR7A2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-19304229-C-T		not specified	Uncertain significance (May 05, 2023)
1-19304295-G-A		not specified	Uncertain significance (Dec 12, 2023)
1-19304370-G-C		not specified	Uncertain significance (May 03, 2023)
1-19306079-G-A		not specified	Uncertain significance (May 01, 2022)
1-19306110-C-G		not specified	Uncertain significance (Nov 06, 2023)
1-19307032-C-G		not specified	Uncertain significance (May 30, 2024)
1-19307060-C-T		not specified	Uncertain significance (Oct 17, 2023)
1-19307066-T-C		not specified	Uncertain significance (Dec 12, 2023)
1-19307074-T-C		not specified	Uncertain significance (Nov 22, 2021)
1-19307388-C-T		not specified	Uncertain significance (Nov 15, 2021)
1-19308165-A-T		not specified	Uncertain significance (Sep 22, 2023)
1-19308193-T-G		not specified	Uncertain significance (May 03, 2023)
1-19308199-G-A		not specified	Uncertain significance (May 28, 2024)
1-19308211-C-T			Benign (Apr 26, 2018)
1-19308498-G-A		not specified	Uncertain significance (Sep 30, 2021)
1-19308498-G-T		not specified	Uncertain significance (Mar 31, 2023)
1-19308516-G-A		not specified	Uncertain significance (Jul 20, 2021)
1-19308567-G-A		not specified	Uncertain significance (May 30, 2023)
1-19311883-T-C		not specified	Uncertain significance (May 21, 2024)
1-19311928-C-A		not specified	Uncertain significance (Oct 14, 2023)
1-19312010-C-A		not specified	Uncertain significance (Aug 02, 2022)
1-19312033-G-T		not specified	Uncertain significance (Apr 22, 2024)
1-19312049-G-A		not specified	Uncertain significance (Dec 01, 2022)
1-19312081-T-C		not specified	Likely benign (Jul 08, 2022)
1-19312088-C-T		not specified	Uncertain significance (Dec 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKR7A2	protein_coding	protein_coding	ENST00000235835	7	8182

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.99e-10	0.0688	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.417	211	195	1.08	0.0000117	2283
Missense in Polyphen		69	60.752	1.1358		723
Synonymous	-0.854	99	88.8	1.12	0.00000605	730
Loss of Function	0.0298	15	15.1	0.992	6.70e-7	180

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000363	0.000363
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000224	0.000217
Finnish	0.0000549	0.0000462
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000224	0.000217
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000269|PubMed:17591773, ECO:0000269|PubMed:9576847}.
• Pathway: Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Aflatoxin B1 metabolism;Metapathway biotransformation Phase I and II;oxidative stress induced gene expression via nrf2;Biological oxidations;Metabolism;Aflatoxin activation and detoxification (Consensus)

Intolerance Scores

• loftool: 0.720
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.68

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.148
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.926

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Akr7a5

Gene ontology

• Biological process: carbohydrate metabolic process;cellular aldehyde metabolic process;xenobiotic metabolic process;electron transport chain;daunorubicin metabolic process;doxorubicin metabolic process
• Cellular component: Golgi apparatus;cytosol;extracellular exosome
• Molecular function: alditol:NADP+ 1-oxidoreductase activity;aldo-keto reductase (NADP) activity;protein binding;electron transfer activity;phenanthrene-9,10-epoxide hydrolase activity