AKR1B10

aldo-keto reductase family 1 member B10, the group of Aldo-keto reductases

Basic information

Region (hg38): 7:134527567-134541412

Previous symbols: [ "AKR1B11" ]

Links

ENSG00000198074 ∙ NCBI:57016 ∙ OMIM:604707 ∙ HGNC:382 ∙ Uniprot:O60218 ∙ 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 AKR1B10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR1B10 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				3		3
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	4	0

Variants in AKR1B10

This is a list of pathogenic ClinVar variants found in the AKR1B10 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-134527969-A-C		not specified	Uncertain significance (Jan 04, 2022)
7-134530802-G-A		not specified	Uncertain significance (Dec 27, 2023)
7-134532005-A-G		not specified	Uncertain significance (Jan 18, 2023)
7-134533043-G-A		not specified	Uncertain significance (Mar 06, 2023)
7-134533062-C-T		not specified	Uncertain significance (May 11, 2022)
7-134536651-C-T		not specified	Uncertain significance (Sep 01, 2021)
7-134536708-G-A		not specified	Likely benign (Jan 17, 2023)
7-134536718-G-T		not specified	Uncertain significance (Jun 23, 2021)
7-134537586-G-A			Likely benign (Sep 01, 2022)
7-134537589-A-T			Likely benign (Sep 01, 2022)
7-134537592-A-G			Likely benign (Sep 01, 2022)
7-134538204-G-A		not specified	Uncertain significance (Feb 26, 2024)
7-134538210-A-G		not specified	Uncertain significance (Feb 10, 2022)
7-134538230-G-T		not specified	Uncertain significance (Sep 16, 2021)
7-134538241-G-C		not specified	Uncertain significance (Feb 14, 2024)
7-134538255-C-A		not specified	Uncertain significance (Oct 06, 2022)
7-134538276-A-G		not specified	Uncertain significance (Dec 28, 2023)
7-134539007-A-G		not specified	Uncertain significance (Jul 06, 2021)
7-134539016-C-G		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKR1B10	protein_coding	protein_coding	ENST00000359579	10	13817

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.57e-9	0.275	125537	3	201	125741	0.000812

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.193	180	173	1.04	0.00000893	2082
Missense in Polyphen		61	58.305	1.0462		780
Synonymous	-0.932	77	67.3	1.14	0.00000384	573
Loss of Function	0.620	14	16.7	0.836	7.06e-7	214

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00240	0.00240
Ashkenazi Jewish	0.00	0.00
East Asian	0.000511	0.000489
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000424	0.000422
Middle Eastern	0.000511	0.000489
South Asian	0.00297	0.00288
Other	0.000818	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as all-trans-retinaldehyde reductase. Can efficiently reduce aliphatic and aromatic aldehydes, and is less active on hexoses (in vitro). May be responsible for detoxification of reactive aldehydes in the digested food before the nutrients are passed on to other organs. {ECO:0000269|PubMed:18087047}.
• Pathway: Folate biosynthesis - Homo sapiens (human);Fructose and mannose metabolism - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);Galactose metabolism - Homo sapiens (human);Pentose and glucuronate interconversions - Homo sapiens (human);Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Metapathway biotransformation Phase I and II;Signaling by GPCR;Signal Transduction;Metabolism of fat-soluble vitamins;acetone degradation I (to methylglyoxal);Glycine Serine metabolism;Metabolism;Metabolism of vitamins and cofactors;Retinoid metabolism and transport;G alpha (i) signalling events;Visual phototransduction;GPCR downstream signalling;methylglyoxal degradation III (Consensus)

Recessive Scores

• pRec: 0.320

Intolerance Scores

• loftool: 0.904
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.43

Haploinsufficiency Scores

• pHI: 0.154
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.916

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akr1b8
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: retinoid metabolic process;farnesol catabolic process;daunorubicin metabolic process;doxorubicin metabolic process;oxidation-reduction process
• Cellular component: extracellular region;mitochondrion;lysosome;cytosol
• Molecular function: retinal dehydrogenase activity;alditol:NADP+ 1-oxidoreductase activity;aldo-keto reductase (NADP) activity;protein binding;alcohol dehydrogenase (NADP+) activity;oxidoreductase activity;geranylgeranyl reductase activity;indanol dehydrogenase activity