GBP6

protein-coding

guanylate binding protein family member 6, the group of Guanylate binding proteins

Gene summary

Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]

MANE transcript

NM_198460.3

Inheritance

—

ClinVar variants

U:93B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr1:89,364,059-89,388,160

External References & Databases

Ensembl (ENSG00000183347)

Transcript & Mutation Effects

hg38 • Region Span ~24.1 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 GBP6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 97

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198460.3. 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				1 clinvar	1 clinvar	2
missense			93 clinvar	5 clinvar	3 clinvar	101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	6	4	103

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198460.3	RefSeq	NP_940862.2	10	MANE Select
ENST00000370456.5	Ensembl	ENSP00000359485.5	10	MANE Select
NM_001320257.2	RefSeq	NP_001307186.1	8	Standard
ENST00000869870.1	Ensembl	ENSP00000539929.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cytokine Signaling in Immune system
Immune System
Interferon gamma signaling
Interferon Signaling

Biological Process

immune response
defense response to bacterium
cellular response to interferon-gamma

Molecular Function

GTPase activity
GTP binding

Cellular Component

extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370456
Coding exons: 10
Length: 22404
Individuals with no LoFs: 125658
Homozygous LoFs: 0
Heterozygous LoFs: 88
Defined: 125746
p: 0.000350

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.00135	339	339	1.00	0.0000173	4192
Missense (PolyPhen)		82	97.684	0.83944		1335
Synonymous	0.218	124	127	0.975	0.00000663	1170
Loss of Function	0.446	25	27.5	0.908	0.00000135	321

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00087	0.00076	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00025	0.00025	rare
South Asian	0.0013	0.00098	notable
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds GTP, GDP and GMP. {ECO:0000250}.;

Recessive Scores

pRec: 0.0891

Intolerance Scores

LoFtool: 0.925
RVIS EVS: 1.29
RVIS percentile EVS: 93.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0485

Gene Damage Prediction

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