GGT6

gamma-glutamyltransferase 6, the group of Gamma-glutamyltransferases

Basic information

Region (hg38): 17:4556927-4560818

Links

ENSG00000167741 ∙ NCBI:124975 ∙ OMIM:612341 ∙ HGNC:26891 ∙ Uniprot:Q6P531 ∙ 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 GGT6 gene.

• not_specified (85 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GGT6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001288702.2. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			76	9	1	86
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	9	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GGT6	protein_coding	protein_coding	ENST00000574154	4	3892

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.98e-8	0.175	125704	0	38	125742	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.321	264	279	0.946	0.0000163	3028
Missense in Polyphen		67	75.449	0.88802		932
Synonymous	-0.326	139	134	1.04	0.00000834	1183
Loss of Function	0.204	12	12.8	0.939	7.11e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000425	0.000423
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000259	0.000255
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cleaves glutathione conjugates. {ECO:0000250}.
• Pathway: Glutathione metabolism - Homo sapiens (human);Taurine and hypotaurine metabolism - Homo sapiens (human);Gamma-glutamyl-transpeptidase deficiency;5-oxoprolinase deficiency;Gamma-Glutamyltransferase Deficiency;Glutathione Metabolism;Glutathione Synthetase Deficiency;Taurine and Hypotaurine Metabolism;5-Oxoprolinuria;Glutathione conjugation;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Glutathione synthesis and recycling;Aflatoxin activation and detoxification (Consensus)

Intolerance Scores

• loftool: 0.825
• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.24

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.123
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0103

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ggt6

Gene ontology

• Biological process: proteolysis;glutathione biosynthetic process;glutathione catabolic process;biological_process;leukotriene D4 biosynthetic process
• Cellular component: integral component of membrane;extracellular exosome
• Molecular function: molecular_function;glutathione hydrolase activity;hypoglycin A gamma-glutamyl transpeptidase activity;leukotriene C4 gamma-glutamyl transferase activity