GBP7

protein-coding

guanylate binding protein 7, the group of Guanylate binding proteins

Gene summary

Guanylate-binding proteins, such as GBP7, 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_207398.3

Inheritance

—

ClinVar variants

U:93B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chr1:89,131,742-89,176,009

External References & Databases

Ensembl (ENSG00000213512)

Transcript & Mutation Effects

hg38 • Region Span ~44.3 kb

Loading mutation effect viewer...

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 GBP7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 97

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207398.3. 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			89 clinvar	10 clinvar		99
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	93	11	0	104

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207398.3	RefSeq	NP_997281.2	10	MANE Select
ENST00000294671.3	Ensembl	ENSP00000294671.2	10	MANE Select
ENST00000650452.1	Ensembl	ENSP00000496924.1	8	Standard
ENST00000897020.1	Ensembl	ENSP00000567079.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

NOD-like receptor signaling pathway - Homo sapiens (human)
Cytokine Signaling in Immune system
Immune System
Interferon gamma signaling
Interferon Signaling

Molecular Function

GTPase activity
GTP binding

Cellular Component

membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000294671
Coding exons: 10
Length: 44290
Individuals with no LoFs: 125124
Homozygous LoFs: 3
Heterozygous LoFs: 621
Defined: 125748
p: 0.00248

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.249	337	324	1.04	0.0000153	4207
Missense (PolyPhen)		100	97.78	1.0227		1372
Synonymous	-0.963	139	125	1.11	0.00000638	1181
Loss of Function	0.807	24	28.7	0.837	0.00000148	330

Population LoF Frequency

Population	CAF	p-value	Status
African	0.021	0.021	notable
Latino/Admixed American	0.0011	0.0011	notable
Ashkenazi Jewish	0.0023	0.0023	notable
East Asian	0.0013	0.0013	notable
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.0014	0.0014	notable
South Asian	0.00088	0.00088	rare
Other	0.0024	0.0024	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.125

Intolerance Scores

LoFtool: 0.855
RVIS EVS: 0.94
RVIS percentile EVS: 89.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0348

Gene Damage Prediction

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