GGT2P

pseudo

gamma-glutamyltransferase 2, pseudogene, the group of Gamma-glutamyltransferases

Gene summary

This gene (GGT2P) appears to be a human duplication of the gamma-glutamyltransferase 1 (GGT1) gene. While GGT2P and GGT1 can potentially encode proteins of the same size and with 94% identity, the ability of GGT2P to encode a stable, functional enzyme has been disputed (see PMID:23682772). Since it is also expressed at a much lower level than GGT1, GGT2P is now thought to be a processed pseudogene. [provided by RefSeq, Jan 2022]

Previous symbols:

GGT
GGT2

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr22:21,207,973-21,225,554

External References & Databases

Ensembl (ENSG00000133475)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GGT2P variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Busulfan Pathway, Pharmacodynamics
Glutathione conjugation
Metabolism of lipids
Phase II - Conjugation of compounds
Prostaglandin Leukotriene metabolism

Biological Process

regulation of immune system process
translation
cellular amino acid metabolic process
glutamate metabolic process
glutathione metabolic process

Molecular Function

peptidyltransferase activity
glutathione hydrolase activity

Cellular Component

endoplasmic reticulum
perinuclear region of cytoplasm
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000401924
Coding exons: 12
Length: 19665
Individuals with no LoFs: 118592
Homozygous LoFs: 1
Heterozygous LoFs: 17
Defined: 118610
p: 0.0000759

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.239	117	125	0.940	0.00000695	3501
Missense (PolyPhen)		36	44.66	0.80609		1269
Synonymous	1.05	44	53.8	0.818	0.00000312	1150
Loss of Function	0.789	7	9.65	0.726	4.47e-7	254

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0010	0.00092	notable
Finnish	0.000048	0.000047	rare
European (Non-Finnish)	0.0000095	0.0000092	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Isoform 1, isoform 2 and isoform 3 lack catalytic activity due to its inability to undergo the autocatalytic cleavage needed to produce a mature, enzymatically active heterodimer. {ECO:0000269|PubMed:23682772}.;

Recessive Scores

pRec: 0.117

Essentials

Indispensability pred.: N
Indispensability score: 0.164

Gene Damage Prediction

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