ALDH3B2

protein-coding

aldehyde dehydrogenase 3 family member B2, the group of Aldehyde dehydrogenases

Gene summary

This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]

Previous symbols:

ALDH8

MANE transcript

NM_001393402.2

Inheritance

—

ClinVar variants

U:45B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.13

Max pathogenic AF

—

Genomic locus

chr11:67,662,155-67,681,224

External References & Databases

Ensembl (ENSG00000132746)

Transcript & Mutation Effects

hg38 • Region Span ~19.1 kb

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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 ALDH3B2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 41

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393402.2. 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			1 clinvar			1
missense			41 clinvar	2 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	45	2	0	47

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001393402.2	RefSeq	NP_001380331.1	8	MANE Select
ENST00000673966.2	Ensembl	ENSP00000501254.1	8	MANE Select
NM_001031615.3	RefSeq	NP_001026786.3	8	Standard
NM_001354345.3	RefSeq	NP_001341274.2	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycolysis / Gluconeogenesis - Homo sapiens (human)
beta-Alanine metabolism - Homo sapiens (human)
Phenylalanine metabolism - Homo sapiens (human)
Histidine metabolism - Homo sapiens (human)
Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)

Biological Process

alcohol metabolic process
ethanol catabolic process
lipid metabolic process
sphingolipid biosynthetic process
oxidation-reduction process

Molecular Function

3-chloroallyl aldehyde dehydrogenase activity
aldehyde dehydrogenase [NAD(P)+] activity

Cellular Component

lipid droplet

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000349015
Coding exons: 8
Length: 19039
Individuals with no LoFs: 125566
Homozygous LoFs: 0
Heterozygous LoFs: 178
Defined: 125744
p: 0.000708

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.130	256	250	1.02	0.0000162	2484
Missense (PolyPhen)		101	99.408	1.016		1021
Synonymous	-0.597	123	115	1.07	0.00000822	771
Loss of Function	-0.474	18	16.0	1.13	6.84e-7	171

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00099	0.00098	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.00041	0.00040	rare
East Asian	0.00044	0.00044	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0012	0.0011	notable
South Asian	0.00060	0.00059	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Oxidizes medium and long chain aldehydes into non-toxic fatty acids. {ECO:0000250|UniProtKB:E9Q3E1}.;

Recessive Scores

pRec: 0.127

Intolerance Scores

LoFtool: 0.158
RVIS EVS: 2.09
RVIS percentile EVS: 97.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.175

Gene Damage Prediction

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