AKR1E2

aldo-keto reductase family 1 member E2, the group of Aldo-keto reductases

Basic information

Region (hg38): 10:4786629-4848062

Previous symbols: [ "AKRDC1", "AKR1CL2" ]

Links

ENSG00000165568 ∙ NCBI:83592 ∙ OMIM:617451 ∙ HGNC:23437 ∙ Uniprot:Q96JD6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• cataract (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AKR1E2 gene.

• not_specified (61 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR1E2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001040177.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			61	2	1	64
nonsense						0
start loss						0
frameshift				2		2
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	62	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKR1E2	protein_coding	protein_coding	ENST00000298375	10	61434

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.10e-11	0.0678	125384	2	362	125748	0.00145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.314	188	176	1.07	0.00000940	2122
Missense in Polyphen		86	77.487	1.1099		935
Synonymous	1.68	48	65.3	0.735	0.00000385	574
Loss of Function	0.210	17	18.0	0.946	9.13e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00853	0.00849
Ashkenazi Jewish	0.00	0.00
East Asian	0.000707	0.000707
Finnish	0.00143	0.00143
European (Non-Finnish)	0.000440	0.000440
Middle Eastern	0.000707	0.000707
South Asian	0.00340	0.00334
Other	0.00228	0.00228

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the NADPH-dependent reduction of 1,5-anhydro- D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10- phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078). {ECO:0000250|UniProtKB:Q9DCT1, ECO:0000269|PubMed:12604216, ECO:0000269|PubMed:15118078}.

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.946
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.36

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.123
• ghis: 0.449

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akr1e1

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: nucleoplasm;Golgi apparatus;cytosol
• Molecular function: alditol:NADP+ 1-oxidoreductase activity;alcohol dehydrogenase (NADP+) activity;oxidoreductase activity;1,5-anhydro-D-fructose reductase activity