ADH7

alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99412260-99435510

Links

ENSG00000196344 ∙ NCBI:131 ∙ OMIM:600086 ∙ HGNC:256 ∙ Uniprot:P40394 ∙ 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 ADH7 gene.

• Inborn genetic diseases (17 variants)
• not provided (1 variants)
• ADH7-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH7 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			17	1	1	19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	1

Variants in ADH7

This is a list of pathogenic ClinVar variants found in the ADH7 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-99413155-G-T		not specified	Uncertain significance (May 26, 2022)
4-99415601-T-C		not specified	Uncertain significance (Dec 27, 2022)
4-99419013-G-A		not specified	Uncertain significance (May 23, 2023)
4-99419054-G-A		not specified	Uncertain significance (Aug 02, 2021)
4-99419058-A-G		not specified	Uncertain significance (Oct 17, 2023)
4-99419063-G-T		not specified	Uncertain significance (Sep 29, 2023)
4-99419073-C-T		not specified	Uncertain significance (Jan 07, 2022)
4-99419079-C-T		not specified	Uncertain significance (Dec 17, 2023)
4-99419115-C-A		not specified	Uncertain significance (Feb 27, 2024)
4-99420546-T-C		not specified	Likely benign (Feb 26, 2024)
4-99420587-C-T		not specified	Uncertain significance (Jun 12, 2023)
4-99420595-A-G		not specified	Uncertain significance (Dec 07, 2021)
4-99420682-T-C			Benign (Dec 31, 2019)
4-99420699-A-T		not specified	Uncertain significance (Dec 07, 2021)
4-99420772-C-T		not specified	Uncertain significance (Oct 25, 2022)
4-99427816-C-T		not specified	Uncertain significance (Feb 15, 2023)
4-99427832-C-G		not specified	Uncertain significance (Oct 16, 2023)
4-99427858-A-G		not specified	Uncertain significance (Jan 03, 2024)
4-99427861-T-C		not specified	Uncertain significance (May 16, 2023)
4-99427863-A-G		ADH7-related disorder	Likely benign (Jun 27, 2022)
4-99427936-C-T		not specified	Uncertain significance (Jun 12, 2023)
4-99427978-C-T		ADH7-related disorder	Likely benign (Aug 10, 2021)
4-99428096-A-T		not specified	Uncertain significance (Dec 22, 2023)
4-99428121-G-A		not specified	Uncertain significance (Aug 17, 2021)
4-99428530-A-T		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADH7	protein_coding	protein_coding	ENST00000476959	9	23477

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.51e-11	0.0295	125700	0	47	125747	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.613	245	219	1.12	0.0000110	2566
Missense in Polyphen		89	74.546	1.1939		895
Synonymous	0.630	70	77.0	0.909	0.00000395	781
Loss of Function	-0.263	16	14.9	1.07	6.20e-7	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000609	0.000608
Ashkenazi Jewish	0.00120	0.00119
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000442	0.0000439
Middle Eastern	0.000218	0.000217
South Asian	0.000399	0.000392
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Could function in retinol oxidation for the synthesis of retinoic acid, a hormone important for cellular differentiation. Medium-chain (octanol) and aromatic (m-nitrobenzaldehyde) compounds are the best substrates. Ethanol is not a good substrate but at the high ethanol concentrations reached in the digestive tract, it plays a role in the ethanol oxidation and contributes to the first pass ethanol metabolism.
• 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;Nuclear Receptors Meta-Pathway;NRF2 pathway;Amino Acid metabolism;Phase I - Functionalization of compounds;Ethanol oxidation;Biological oxidations;Metabolism;Tyrosine metabolism (Consensus)

Recessive Scores

• pRec: 0.267

Intolerance Scores

• loftool: 0.972
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.38

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.155
• ghis: 0.399

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.184

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adh7
• 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); taste/olfaction phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: retinoid metabolic process;ethanol catabolic process;ethanol oxidation;response to bacterium;fatty acid omega-oxidation;retinol metabolic process;retinoic acid metabolic process;response to ethanol;oxidation-reduction process;extracellular negative regulation of signal transduction
• Cellular component: extracellular region;cytosol;plasma membrane
• Molecular function: alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;aldehyde oxidase activity;retinol dehydrogenase activity;zinc ion binding;retinol binding;ethanol binding;receptor antagonist activity