CBR3

protein-coding

carbonyl reductase 3, the group of Short chain dehydrogenase/reductase superfamily

Gene summary

Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001236.4

Inheritance

—

ClinVar variants

U:51B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.1

Max pathogenic AF

—

Genomic locus

chr21:36,135,079-36,146,562

External References & Databases

Ensembl (ENSG00000159231)

Transcript & Mutation Effects

hg38 • Region Span ~11.5 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CBR3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 47

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001236.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			49 clinvar	1 clinvar	1 clinvar	51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	51	1	1	53

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001236.4	RefSeq	NP_001227.1	3	MANE Select
ENST00000290354.6	Ensembl	ENSP00000290354.5	3	MANE Select
ENST00000926155.1	Ensembl	ENSP00000596214.1	2	Standard
ENST00000926155.2	Ensembl	ENSP00000596214.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)
Arachidonic acid metabolism - Homo sapiens (human)
Doxorubicin Pathway, Pharmacokinetics
Doxorubicin Metabolism Pathway

Biological Process

xenobiotic metabolic process
phylloquinone catabolic process
cognition
oxidation-reduction process

Molecular Function

3-keto sterol reductase activity
carbonyl reductase (NADPH) activity
protein binding
NADPH binding

Cellular Component

extracellular space
nucleoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000290354
Coding exons: 3
Length: 11655
Individuals with no LoFs: 125384
Homozygous LoFs: 2
Heterozygous LoFs: 362
Defined: 125748
p: 0.00145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0345	155	154	1.01	0.00000722	1811
Missense (PolyPhen)		38	36.974	1.0277		453
Synonymous	0.940	56	65.7	0.852	0.00000326	549
Loss of Function	-0.256	8	7.26	1.10	3.08e-7	95

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00050	0.00049	rare
Latino/Admixed American	0.0015	0.0014	notable
Ashkenazi Jewish	0.023	0.023	notable
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00049	0.00049	rare
South Asian	0.00013	0.00013	rare
Other	0.0018	0.0018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro). {ECO:0000269|PubMed:18493841}.;

Recessive Scores

pRec: 0.140

Intolerance Scores

LoFtool: 0.601
RVIS EVS: 0.46
RVIS percentile EVS: 78.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.726

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High