ADH4

alcohol dehydrogenase 4 (class II), pi polypeptide, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99123656-99157792

Links

ENSG00000198099 ∙ NCBI:127 ∙ OMIM:103740 ∙ HGNC:252 ∙ Uniprot:P08319 ∙ 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 ADH4 gene.

• Inborn genetic diseases (16 variants)
• CIC-DUX Sarcoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH4 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			16			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	16	0	0

Variants in ADH4

This is a list of pathogenic ClinVar variants found in the ADH4 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-99124461-C-T		not specified	Uncertain significance (Oct 05, 2023)
4-99126639-A-G		not specified	Uncertain significance (Jan 08, 2024)
4-99126670-G-C		not specified	Uncertain significance (Jun 24, 2022)
4-99127235-C-A		not specified	Uncertain significance (Oct 25, 2023)
4-99127236-G-A		not specified	Uncertain significance (Nov 21, 2023)
4-99127295-A-G		not specified	Uncertain significance (May 26, 2022)
4-99131644-A-G		not specified	Uncertain significance (May 17, 2023)
4-99131655-T-C		not specified	Uncertain significance (Oct 29, 2021)
4-99131683-C-T		not specified	Uncertain significance (Aug 22, 2023)
4-99131715-A-G		not specified	Uncertain significance (Aug 28, 2023)
4-99131722-C-A		not specified	Uncertain significance (Nov 30, 2022)
4-99131745-C-T		not specified	Uncertain significance (Oct 03, 2023)
4-99136485-G-A		not specified	Uncertain significance (Mar 11, 2024)
4-99136610-G-C		not specified	Uncertain significance (Feb 06, 2023)
4-99136653-T-G		not specified	Uncertain significance (Feb 05, 2024)
4-99139136-A-G		not specified	Uncertain significance (May 17, 2023)
4-99141543-G-C		not specified	Uncertain significance (Aug 13, 2021)
4-99141550-C-T		not specified	Uncertain significance (Dec 21, 2022)
4-99141588-G-A		not specified	Uncertain significance (Aug 14, 2023)
4-99141597-T-C		not specified	Uncertain significance (Jun 01, 2023)
4-99141603-A-G		not specified	Uncertain significance (Dec 19, 2022)
4-99141604-C-T		not specified	Uncertain significance (Oct 10, 2023)
4-99141619-C-G		not specified	Uncertain significance (Aug 16, 2021)
4-99142702-T-C		not specified	Uncertain significance (Jan 18, 2022)
4-99142704-G-A		not specified	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADH4	protein_coding	protein_coding	ENST00000265512	9	34142

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.07e-7	0.512	125622	0	123	125745	0.000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0325	199	200	0.994	0.00000941	2470
Missense in Polyphen		74	82.005	0.90238		1011
Synonymous	1.14	61	73.4	0.831	0.00000369	764
Loss of Function	0.815	11	14.3	0.768	5.97e-7	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00356	0.00356
Ashkenazi Jewish	0.00	0.00
East Asian	0.000599	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000241	0.000237
Middle Eastern	0.000599	0.000598
South Asian	0.000163	0.000163
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• 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;Fatty Acid Omega Oxidation;Amino Acid metabolism;Vitamin A and Carotenoid Metabolism;Signal Transduction;Phase I - Functionalization of compounds;RA biosynthesis pathway;Ethanol oxidation;Biological oxidations;Metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;Tyrosine metabolism;noradrenaline and adrenaline degradation (Consensus)

Recessive Scores

• pRec: 0.184

Intolerance Scores

• loftool: 0.930
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.96

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.146
• ghis: 0.437

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.277

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adh4

Gene ontology

• Biological process: retinoid metabolic process;alcohol metabolic process;ethanol oxidation;cellular aldehyde metabolic process;retinol metabolic process;alcohol catabolic process;formaldehyde catabolic process;quinone metabolic process
• Cellular component: nucleus;cytosol
• Molecular function: NADPH:quinone reductase activity;alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;alditol:NADP+ 1-oxidoreductase activity;retinol dehydrogenase activity;all-trans retinal binding;zinc ion binding;oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor;benzaldehyde dehydrogenase activity;retinol binding;ethanol binding;NAD binding;S-(hydroxymethyl)glutathione dehydrogenase activity