GATB

protein-coding

glutamyl-tRNA amidotransferase subunit B, the group of Glutamyl-tRNA amidotransferase subunits

Gene summary

Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 41. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

PET112L
PET112

MANE transcript

NM_004564.3

Inheritance

ClinVar variants

P:5U:87B:28

Top phenotype

Combined oxidative phosphorylation deficiency 41

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr4:151,670,504-151,761,007

External References & Databases

Ensembl (ENSG00000059691)

Transcript & Mutation Effects

hg38 • Region Span ~90.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

inborn mitochondrial metabolism disorderMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0004069

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Combined oxidative phosphorylation deficiency 41AR

Manifestation: Biochemical; Cardiovascular; Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 30283131

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GATB variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 88

not providedTotal: 19

GATB-related disorderTotal: 19

Combined oxidative phosphorylation deficiency 41Total: 7

Cardiomyopathy, mitochondrialTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004564.3. 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	Sum
synonymous			2 clinvar	6 clinvar	3 clinvar	11
missense	1 clinvar	1 clinvar	77 clinvar	17 clinvar	2 clinvar	98
nonsense		1 clinvar				1
start loss			1 clinvar			1
frameshift	1 clinvar	1 clinvar	1 clinvar			3
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	2	3	87	23	5	120

Highest pathogenic variant AF is 0.000017809707

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004564.3	RefSeq	NP_004555.1	13	MANE Select
ENST00000263985.11	Ensembl	ENSP00000263985.6	13	MANE Select
NM_001363341.2	RefSeq	NP_001350270.1	12	Standard
ENST00000503160.5	Ensembl	ENSP00000421005.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Aminoacyl-tRNA biosynthesis - Homo sapiens (human)
L-glutamine tRNA biosynthesis

Biological Process

translation
mitochondrial translation
glutaminyl-tRNAGln biosynthesis via transamidation

Molecular Function

ATP binding
translation factor activity, RNA binding
glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity

Cellular Component

mitochondrion
glutamyl-tRNA(Gln) amidotransferase complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263985
Coding exons: 13
Length: 90520
Individuals with no LoFs: 125681
Homozygous LoFs: 1
Heterozygous LoFs: 66
Defined: 125748
p: 0.000266

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.488	284	308	0.922	0.0000159	3631
Missense (PolyPhen)		116	133.07	0.87171		1566
Synonymous	-0.274	126	122	1.03	0.00000688	1100
Loss of Function	1.59	19	28.1	0.676	0.00000135	320

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00057	0.00049	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00052	0.00052	rare
Other	0.00052	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu- tRNA(Gln). {ECO:0000255|HAMAP-Rule:MF_03147, ECO:0000269|PubMed:19805282}.;

Recessive Scores

pRec: 0.133

Intolerance Scores

RVIS EVS: 0.36
RVIS percentile EVS: 74.66

Essentials

Essential (gene trap): E