ALDH3B2

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

Basic information

Region (hg38): 11:67662155-67681224

Previous symbols: [ "ALDH8" ]

Links

ENSG00000132746 ∙ NCBI:222 ∙ OMIM:601917 ∙ HGNC:411 ∙ Uniprot:P48448 ∙ 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 ALDH3B2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDH3B2 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			32	2		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	2	0

Variants in ALDH3B2

This is a list of pathogenic ClinVar variants found in the ALDH3B2 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-67663225-G-A		not specified	Uncertain significance (Jul 19, 2023)
11-67663252-C-T		not specified	Uncertain significance (Oct 06, 2021)
11-67663274-C-T		not specified	Uncertain significance (Aug 08, 2022)
11-67663279-T-G		not specified	Uncertain significance (May 21, 2024)
11-67663316-C-T		not specified	Uncertain significance (Jun 22, 2021)
11-67663339-C-T		not specified	Uncertain significance (Mar 20, 2024)
11-67663728-C-T		not specified	Uncertain significance (Apr 07, 2022)
11-67663750-C-A		not specified	Uncertain significance (Mar 18, 2024)
11-67664416-C-T		not specified	Uncertain significance (Aug 16, 2022)
11-67664428-G-C		not specified	Uncertain significance (Mar 07, 2023)
11-67664439-T-C		not specified	Likely benign (Nov 03, 2022)
11-67664461-C-T		not specified	Uncertain significance (Sep 01, 2021)
11-67664469-A-G		not specified	Uncertain significance (Dec 18, 2023)
11-67664470-C-T		not specified	Uncertain significance (Jan 26, 2022)
11-67664535-T-C		not specified	Uncertain significance (Sep 21, 2023)
11-67664560-G-A		not specified	Uncertain significance (May 18, 2023)
11-67665293-C-T		not specified	Uncertain significance (May 24, 2024)
11-67665297-C-T		not specified	Uncertain significance (Oct 21, 2021)
11-67665303-C-T		not specified	Uncertain significance (Oct 06, 2023)
11-67665381-T-A		not specified	Uncertain significance (Jun 06, 2023)
11-67665423-A-T		not specified	Uncertain significance (Feb 15, 2023)
11-67665486-C-T		not specified	Likely benign (Jan 04, 2022)
11-67665490-G-C		not specified	Uncertain significance (Jan 31, 2022)
11-67665491-T-G		not specified	Uncertain significance (Nov 28, 2023)
11-67665501-C-T		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALDH3B2	protein_coding	protein_coding	ENST00000349015	8	19039

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.19e-13	0.0113	125566	0	178	125744	0.000708

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.130	256	250	1.02	0.0000162	2484
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00114	0.00113
Ashkenazi Jewish	0.000413	0.000397
East Asian	0.000444	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.00115	0.00111
Middle Eastern	0.000444	0.000435
South Asian	0.000599	0.000588
Other	0.000174	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Oxidizes medium and long chain aldehydes into non-toxic fatty acids. {ECO:0000250|UniProtKB:E9Q3E1}.
• Pathway: 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);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Metabolism of lipids;Metabolism;Phenylalanine degradation;2,-deoxy-α-D-ribose 1-phosphate degradation;Tyrosine metabolism;Sphingolipid de novo biosynthesis;Sphingolipid metabolism;Histidine degradation;putrescine degradation III (Consensus)

Recessive Scores

• pRec: 0.127

Intolerance Scores

• loftool: 0.158
• rvis_EVS: 2.09
• rvis_percentile_EVS: 97.85

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.146
• ghis: 0.412

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.175

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aldh3b3

Gene ontology

• Biological process: alcohol metabolic process;ethanol catabolic process;lipid metabolic process;sphingolipid biosynthetic process;oxidation-reduction process
• Cellular component: lipid droplet
• Molecular function: 3-chloroallyl aldehyde dehydrogenase activity;aldehyde dehydrogenase [NAD(P)+] activity