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] See more...

Aliases for GBP6 Gene

Aliases for GBP6 Gene

  • Guanylate Binding Protein Family Member 6 2 3 5
  • Guanine Nucleotide-Binding Protein 6 3 4
  • Guanylate-Binding Protein 6 3 4
  • GTP-Binding Protein 6 3 4
  • GBP-6 3 4
  • Guanylate Binding Protein Family, Member 6 2
  • DKFZp686G0786 2
  • GBP6 5

External Ids for GBP6 Gene

Previous GeneCards Identifiers for GBP6 Gene

  • GC01P089542
  • GC01P089602
  • GC01P089829
  • GC01P087946

Summaries for GBP6 Gene

Entrez Gene Summary for GBP6 Gene

  • 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]

GeneCards Summary for GBP6 Gene

GBP6 (Guanylate Binding Protein Family Member 6) is a Protein Coding gene. Diseases associated with GBP6 include Noonan Syndrome 6. Among its related pathways are Interferon gamma signaling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GBP4.

UniProtKB/Swiss-Prot Summary for GBP6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GBP6 Gene

Genomics for GBP6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GBP6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J089362 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 254.7 -0.3 -337 1.8 MAFF IRF4 ZNF316 EBF1 MAFK BATF MAFG IKZF1 NR2F1 ATF2 GBP6 LRRC8B ENSG00000231613 piR-55110-005 GBP5
GH01J089365 Enhancer 0.6 Ensembl ENCODE CraniofacialAtlas 250.7 +1.1 1091 1 ZBTB40 GBP6 LRRC8B CAPNS1P1
GH01J088990 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -371.5 -371502 4 SP1 IKZF1 MYC ZNF600 JUND ZNF580 POLR2A ZNF10 NFIC YY1 KYAT3 HSALNG0005043 RBMXL1 GBP3 PKN2 ELOCP19 GTF2B GBP5 GBP6 ENSG00000235308
GH01J089020 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 10.6 -341.7 -341707 2.7 YY1 CEBPB IRF2 EP300 FOXA2 PRDM1 SMAD4 TBP JUND ZZZ3 GBP3 ENSG00000202385 ENSG00000286802 lnc-PKN2-1 GBP6 GBP5 PKN2 GBP1 RBMXL1 KYAT3
GH01J088984 Promoter/Enhancer 1.1 EPDnew ENCODE 10.7 -379.1 -379084 3 ZNF654 JUND NFIC YY1 CTCF CEBPB MAX IRF2 RAD21 RFX5 RBMXL1 GBP6 GBP5 ENSG00000237568 KYAT3 lnc-PKN2-4 GTF2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBP6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GBP6

Top Transcription factor binding sites by QIAGEN in the GBP6 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • C/EBPalpha
  • CUTL1
  • E47
  • Hand1
  • Ik-3
  • RREB-1

Genomic Locations for GBP6 Gene

Latest Assembly
chr1:89,364,059-89,388,160
(GRCh38/hg38)
Size:
24,102 bases
Orientation:
Plus strand

Previous Assembly
chr1:89,829,618-89,853,719
(GRCh37/hg19 by Entrez Gene)
Size:
24,102 bases
Orientation:
Plus strand

chr1:89,829,617-89,852,020
(GRCh37/hg19 by Ensembl)
Size:
22,404 bases
Orientation:
Plus strand

Genomic View for GBP6 Gene

Genes around GBP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBP6 Gene

Proteins for GBP6 Gene

  • Protein details for GBP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZN66-GBP6_HUMAN
    Recommended name:
    Guanylate-binding protein 6
    Protein Accession:
    Q6ZN66
    Secondary Accessions:
    • A2RRM3
    • Q6ZN86
    • Q7Z3F0

    Protein attributes for GBP6 Gene

    Size:
    633 amino acids
    Molecular mass:
    72427 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GBP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBP6 Gene

Post-translational modifications for GBP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GBP6 Gene

Antibodies for research

  • Abcam antibodies for GBP6
  • Boster Bio Antibodies for GBP6

No data available for DME Specific Peptides for GBP6 Gene

Domains & Families for GBP6 Gene

Gene Families for GBP6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GBP6 Gene

Suggested Antigen Peptide Sequences for GBP6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53421, highly similar to Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA (B4E1U2_HUMAN)
  • Guanine nucleotide-binding protein 6 (GBP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZN66

UniProtKB/Swiss-Prot:

GBP6_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
genes like me logo Genes that share domains with GBP6: view

Function for GBP6 Gene

Molecular function for GBP6 Gene

UniProtKB/Swiss-Prot Function:
Binds GTP, GDP and GMP.

Phenotypes From GWAS Catalog for GBP6 Gene

Gene Ontology (GO) - Molecular Function for GBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005525 GTP binding IBA 21873635
genes like me logo Genes that share ontologies with GBP6: view
genes like me logo Genes that share phenotypes with GBP6: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBP6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GBP6 Gene

Localization for GBP6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBP6 gene
Compartment Confidence
extracellular 4
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031410 cytoplasmic vesicle IBA 21873635
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with GBP6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GBP6 Gene

Pathways & Interactions for GBP6 Gene

genes like me logo Genes that share pathways with GBP6: view

Pathways by source for GBP6 Gene

Gene Ontology (GO) - Biological Process for GBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response ISS --
GO:0042742 defense response to bacterium ISS --
GO:0042832 defense response to protozoan IBA 21873635
GO:0050830 defense response to Gram-positive bacterium IBA 21873635
GO:0071346 cellular response to interferon-gamma IBA,ISS --
genes like me logo Genes that share ontologies with GBP6: view

No data available for SIGNOR curated interactions for GBP6 Gene

Drugs & Compounds for GBP6 Gene

(2) Drugs for GBP6 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
genes like me logo Genes that share compounds with GBP6: view

Transcripts for GBP6 Gene

mRNA/cDNA for GBP6 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBP6

Alternative Splicing Database (ASD) splice patterns (SP) for GBP6 Gene

No ASD Table

Relevant External Links for GBP6 Gene

GeneLoc Exon Structure for
GBP6

Expression for GBP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GBP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GBP6 Gene

This gene is overexpressed in Esophagus - Mucosa (x37.7) and Minor Salivary Gland (x8.2).

Protein differential expression in normal tissues from HIPED for GBP6 Gene

This gene is overexpressed in Cervix (55.0) and Esophagus (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GBP6 Gene



Protein tissue co-expression partners for GBP6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GBP6

SOURCE GeneReport for Unigene cluster for GBP6 Gene:

Hs.254338

Evidence on tissue expression from TISSUES for GBP6 Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with GBP6: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GBP6 Gene

Orthologs for GBP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GBP6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GBP6 29 30
  • 99.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GBP7 29
  • 84.18 (n)
-- 30
  • 75 (a)
OneToMany
GBP6 30
  • 73 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia GBP6 29 30
  • 82.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mpa2l 29
  • 79.14 (n)
Mouse
(Mus musculus)
Mammalia Gbp6 29 16 30
  • 78.81 (n)
OneToMany
Gbp11 16 30 30
  • 75 (a)
OneToMany
Gbp8 30
  • 69 (a)
OneToMany
Gbp10 16 30
  • 68 (a)
OneToMany
Gbp9 16 30
  • 68 (a)
OneToMany
Gbp4 16 30
  • 63 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 61 (a)
ManyToMany
-- 30
  • 60 (a)
ManyToMany
-- 30
  • 51 (a)
ManyToMany
-- 30
  • 47 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 56 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 22 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 50 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489592 29
  • 58.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii gbp3 29
  • 55.81 (n)
CABZ01068208.1 30
  • 39 (a)
ManyToMany
Species where no ortholog for GBP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GBP6 Gene

ENSEMBL:
Gene Tree for GBP6 (if available)
TreeFam:
Gene Tree for GBP6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GBP6: view image
Alliance of Genome Resources:
Additional Orthologs for GBP6

Paralogs for GBP6 Gene

Paralogs for GBP6 Gene

(7) SIMAP similar genes for GBP6 Gene using alignment to 2 proteins:

  • GBP6_HUMAN
  • F5H7G9_HUMAN

Pseudogenes.org Pseudogenes for GBP6 Gene

genes like me logo Genes that share paralogs with GBP6: view

Variants for GBP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GBP6 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs113532469 Benign: not provided 89,382,793(+) G/T
NM_198460.3(GBP6):c.1282G>T (p.Val428Phe)
MISSENSE
rs113658121 Benign: not provided 89,380,426(+) G/A
NM_198460.3(GBP6):c.666G>A (p.Glu222=)
SYNONYMOUS
rs116173091 Benign: not provided 89,383,697(+) G/A
NM_198460.3(GBP6):c.1411G>A (p.Glu471Lys)
MISSENSE
rs76159539 Benign: not provided 89,385,284(+) G/A
NM_198460.3(GBP6):c.1717G>A (p.Ala573Thr)
MISSENSE
rs4582772 -- p.Thr278Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GBP6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GBP6 Gene

Variant ID Type Subtype PubMed ID
esv3586760 CNV gain 21293372
esv3586763 CNV gain 21293372
nsv1078569 CNV deletion 25765185
nsv1142762 CNV deletion 24896259

Variation tolerance for GBP6 Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GBP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBP6
Leiden Open Variation Database (LOVD)
GBP6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBP6 Gene

Disorders for GBP6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GBP6 Gene - From: COP

Disorder Aliases PubMed IDs
noonan syndrome 6
  • ns6
- elite association - COSMIC cancer census association via MalaCards
Search GBP6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GBP6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GBP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GBP6 Gene

Publications for GBP6 Gene

  1. Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study. (PMID: 20423481) Suarez-Gestal M … Gonzalez A (Arthritis research & therapy 2010) 3 40
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Wnt regulation: exploring Axin-Disheveled interactions and defining mechanisms by which the SCF E3 ubiquitin ligase is recruited to the destruction complex. (PMID: 32129710) Schaefer KN … Peifer M (Molecular biology of the cell 2020) 3
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for GBP6 Gene

Sources for GBP6 Gene