GeneBe

ADH5

alcohol dehydrogenase 5 (class III), chi polypeptide, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99070978-99088801

Previous symbols: [ "FDH" ]

Links

ENSG00000197894 ∙ NCBI:128 ∙ OMIM:103710 ∙ HGNC:253 ∙ Uniprot:P11766 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • AMED syndrome, digenic (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
AMED syndrome, digenicDigenicHematologic; OncologicThe condition can include bone marrow failure as well as predisposition to malignancy, and awareness may allow early diagnosis and management of these manifestationsCraniofacial; Dermatologic; Hematologic; Musculoskeletal; Neurologic; Oncologic33355142
The condition is described as being caused by bi-allelic variants in ADH5 and a specific allele in ALDH2

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADH5 gene.

  • not_specified (26 variants)
  • AMED_syndrome,_digenic (5 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000671.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
1
clinvar
28
clinvar
 29
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total 4 0 28 1 0

Highest pathogenic variant AF is 0.0000211712

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADH5protein_codingprotein_codingENST00000296412 917821
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.54e-110.03981247890701248590.000280
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.031612020.7970.00001012419
Missense in Polyphen4569.6230.64633873
Synonymous1.815069.20.7230.00000363739
Loss of Function-0.1221615.51.036.93e-7223

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008100.000795
Ashkenazi Jewish0.00009930.0000993
East Asian0.0005110.000498
Finnish0.0004660.000464
European (Non-Finnish)0.0001720.000168
Middle Eastern0.0005110.000498
South Asian0.0002380.000229
Other0.0006620.000660

dbNSFP

Source: dbNSFP

Function
FUNCTION: Class-III ADH is remarkably ineffective in oxidizing ethanol, but it readily catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione. {ECO:0000269|PubMed:8460164}.;
Pathway
Retinol metabolism - Homo sapiens (human);Glycolysis / Gluconeogenesis - Homo sapiens (human);Fatty acid degradation - 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);Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Folate-Alcohol and Cancer Pathway Hypotheses;Amino Acid metabolism;Phase I - Functionalization of compounds;Ethanol oxidation;Biological oxidations;Metabolism;Tyrosine metabolism;formaldehyde oxidation (Consensus)

Recessive Scores

pRec
0.344

Intolerance Scores

loftool
0.826
rvis_EVS
0.19
rvis_percentile_EVS
66.82

Haploinsufficiency Scores

pHI
0.264
hipred
N
hipred_score
0.177
ghis
0.547

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.635

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Adh5
Phenotype
homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Zebrafish Information Network

Gene name
adh5
Affected structure
liver
Phenotype tag
abnormal
Phenotype quality
increased size

Gene ontology

Biological process
retinoid metabolic process;respiratory system process;ethanol oxidation;peptidyl-cysteine S-nitrosylation;electron transport chain;response to lipopolysaccharide;positive regulation of blood pressure;formaldehyde catabolic process;response to nitrosative stress;response to redox state
Cellular component
mitochondrion;cytosol;extracellular exosome
Molecular function
alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;fatty acid binding;zinc ion binding;electron transfer activity;formaldehyde dehydrogenase activity;protein homodimerization activity;S-(hydroxymethyl)glutathione dehydrogenase activity