SGTB

protein-coding

small glutamine rich tetratricopeptide repeat co-chaperone beta, the group of Tetratricopeptide repeat domain containing

Gene summary

Predicted to enable molecular adaptor activity. Predicted to be involved in post-translational protein targeting to endoplasmic reticulum membrane. Predicted to be part of TRC complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_019072.3

Inheritance

—

ClinVar variants

U:27

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.31

Max pathogenic AF

—

Genomic locus

chr5:65,665,928-65,723,035

External References & Databases

Ensembl (ENSG00000197860)

Transcript & Mutation Effects

hg38 • Region Span ~57.1 kb

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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 SGTB variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 22

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019072.3. 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						0
missense			23 clinvar			23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	27	0	0	27

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019072.3	RefSeq	NP_061945.1	10	MANE Select
ENST00000381007.9	Ensembl	ENSP00000370395.4	10	MANE Select
ENST00000506816.1	Ensembl	ENSP00000421447.1	6	Standard
ENST00000869787.1	Ensembl	ENSP00000539846.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

posttranslational protein targeting to endoplasmic reticulum membrane
ubiquitin-dependent ERAD pathway
positive regulation of chaperone-mediated protein folding

Molecular Function

protein binding
protein-containing complex scaffold activity

Cellular Component

cytosol
membrane
TRC complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381007
Coding exons: 10
Length: 57108
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125741
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.03	89	162	0.550	0.00000789	2016
Missense (PolyPhen)		17	42.421	0.40074		557
Synonymous	1.42	40	53.2	0.752	0.00000256	533
Loss of Function	2.84	6	19.6	0.307	9.24e-7	239

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00011	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000026	0.000026	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity. {ECO:0000250}.;

Recessive Scores

pRec: 0.174

Intolerance Scores

LoFtool: 0.197
RVIS EVS: -0.03
RVIS percentile EVS: 51.4

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.662

Gene Damage Prediction

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