Aliases for GMFB Gene

Aliases for GMFB Gene

  • Glia Maturation Factor Beta 2 3 4 5
  • GMF-Beta 3 4
  • GMF 2 3
  • GMFB 5

External Ids for GMFB Gene

Previous GeneCards Identifiers for GMFB Gene

  • GC14M052265
  • GC14M048737
  • GC14M052931
  • GC14M054010
  • GC14M054941
  • GC14M035103

Summaries for GMFB Gene

GeneCards Summary for GMFB Gene

GMFB (Glia Maturation Factor Beta) is a Protein Coding gene. Diseases associated with GMFB include Arthrogryposis Multiplex Congenita 2, Neurogenic Type and Large Congenital Melanocytic Nevus. Among its related pathways are Signal transduction_Erk Interactions- Inhibition of Erk and Development Angiotensin activation of ERK. Gene Ontology (GO) annotations related to this gene include actin binding and growth factor activity. An important paralog of this gene is GMFG.

UniProtKB/Swiss-Prot Summary for GMFB Gene

  • This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells.

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

Genomics for GMFB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GMFB 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
GH14J054487 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.3 -347 3.9 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF580 KLF9 POLR2A ATF3 ZIC2 GMFB HSALNG0101397 lnc-CNIH1-2 ATG14 BMP4 SOCS4 HMGN1P1 MAPK1IP1L CGRRF1 CNIH1
GH14J054502 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13.9 -12.9 -12875 5.4 NCOR1 IKZF1 CEBPA NFIC CTCF KMT2B ELF1 FOXA2 CTBP1 SAP130 HSALNG0101399 GMFB SAMD4A CNIH1 GCH1 CGRRF1 lnc-GMFB-1 HSALNG0101401
GH14J054497 Enhancer 1 Ensembl ENCODE 7.1 -9.1 -9080 1.8 ZNF600 CEBPA CHD4 THAP11 KDM6A SAP130 RARA GABPB1 ZNF316 NFE2 lnc-GMFB-1 CNIH1 GMFB piR-50437-174 HSALNG0101397 CGRRF1
GH14J054782 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 3 -295.1 -295113 3.9 ATF3 YY1 TRIM22 CTCF SIN3A MAFF RXRA SMC3 IRF4 ZBTB33 HSALNG0101422 HSALNG0101423 SAMD4A GCH1 WDHD1 GMFB FBXO34 LGALS3 MAPK1IP1L
GH14J054450 Enhancer 0.9 FANTOM5 ENCODE 4.3 +38.1 38083 1.8 JUND TBP SOX5 SPI1 MYC PKNOX1 MAX NRF1 ZNF48 NR2F1 HSALNG0101395-001 HSALNG0101395-002 GCH1 CNIH1 GMFB CGRRF1 piR-39098-068
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the GMFB gene promoter:
  • c-Myb
  • CREB
  • deltaCREB
  • Evi-1
  • Hlf
  • LCR-F1
  • Msx-1
  • TBP
  • TFIID

Genomic Locations for GMFB Gene

Latest Assembly
chr14:54,474,484-54,489,026
(GRCh38/hg38)
Size:
14,543 bases
Orientation:
Minus strand

Previous Assembly
chr14:54,941,203-54,955,698
(GRCh37/hg19 by Entrez Gene)
Size:
14,496 bases
Orientation:
Minus strand

chr14:54,941,202-54,955,914
(GRCh37/hg19 by Ensembl)
Size:
14,713 bases
Orientation:
Minus strand

Genomic View for GMFB Gene

Genes around GMFB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GMFB Gene

Proteins for GMFB Gene

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

    Protein Symbol:
    P60983-GMFB_HUMAN
    Recommended name:
    Glia maturation factor beta
    Protein Accession:
    P60983
    Secondary Accessions:
    • B2R499
    • P17774
    • Q9BS35

    Protein attributes for GMFB Gene

    Size:
    142 amino acids
    Molecular mass:
    16713 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH05359.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAP35430.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for GMFB Gene

Post-translational modifications for GMFB Gene

  • Phosphorylated; stimulated by phorbol ester.
  • Ubiquitination at Lys35 and Lys74
  • Modification sites at PhosphoSitePlus

Other Protein References for GMFB Gene

Antibodies for research

  • Boster Bio Antibodies for GMFB

No data available for DME Specific Peptides for GMFB Gene

Domains & Families for GMFB Gene

Gene Families for GMFB Gene

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

Protein Domains for GMFB Gene

InterPro:
Blocks:
  • Actin-binding, cofilin/tropomyosin type

Suggested Antigen Peptide Sequences for GMFB Gene

GenScript: Design optimal peptide antigens:
  • Glia maturation factor beta (GMFB_HUMAN)
  • Glia maturation factor, beta (Q9BS35_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60983

UniProtKB/Swiss-Prot:

GMFB_HUMAN :
  • Belongs to the actin-binding proteins ADF family. GMF subfamily.
Family:
  • Belongs to the actin-binding proteins ADF family. GMF subfamily.
genes like me logo Genes that share domains with GMFB: view

Function for GMFB Gene

Molecular function for GMFB Gene

UniProtKB/Swiss-Prot Function:
This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells.

Phenotypes From GWAS Catalog for GMFB Gene

Gene Ontology (GO) - Molecular Function for GMFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004860 protein kinase inhibitor activity TAS 8639570
GO:0008047 enzyme activator activity TAS 8798479
GO:0008083 growth factor activity IEA --
GO:0071933 Arp2/3 complex binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with GMFB: view
genes like me logo Genes that share phenotypes with GMFB: view

Animal Models for GMFB Gene

MGI Knock Outs for GMFB:

Inhibitory RNAs for research

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

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

Localization for GMFB 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 GMFB gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GMFB Gene

Pathways & Interactions for GMFB Gene

PathCards logo

SuperPathways for GMFB Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
.65
2 Signal transduction_Erk Interactions- Inhibition of Erk
-
genes like me logo Genes that share pathways with GMFB: view

Pathways by source for GMFB Gene

2 GeneGo (Thomson Reuters) pathways for GMFB Gene
  • Development G-Proteins mediated regulation MARK-ERK signaling
  • Signal transduction_Erk Interactions- Inhibition of Erk

SIGNOR curated interactions for GMFB Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for GMFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation TAS 7598724
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development TAS 1712830
GO:0034316 negative regulation of Arp2/3 complex-mediated actin nucleation IEA,IBA 21873635
genes like me logo Genes that share ontologies with GMFB: view

Drugs & Compounds for GMFB Gene

(1) Additional Compounds for GMFB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GMFB: view

Transcripts for GMFB Gene

mRNA/cDNA for GMFB Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 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 GMFB

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - - -
SP5: -
SP6: -

Relevant External Links for GMFB Gene

GeneLoc Exon Structure for
GMFB

Expression for GMFB Gene

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

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for GMFB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.5).

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



Protein tissue co-expression partners for GMFB Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for GMFB Gene:

Hs.151413

Evidence on tissue expression from TISSUES for GMFB Gene

  • Nervous system(5)
  • Liver(4.3)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with GMFB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GMFB Gene

Orthologs for GMFB Gene

This gene was present in the common ancestor of animals.

Orthologs for GMFB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GMFB 29 30
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GMFB 29 30
  • 96.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GMFB 29 30
  • 95.77 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GMFB 30
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gmfb 29 16 30
  • 90.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gmfb 29
  • 90.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia GMFB 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GMFB 29 30
  • 85.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GMFB 30
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gmfg 29
  • 80.28 (n)
Str.7359 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.24755 29
Zebrafish
(Danio rerio)
Actinopterygii gmfb 29 30
  • 75.89 (n)
OneToOne
wufa97c03 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG5869 29 30
  • 56.06 (n)
OneToMany
BG:DS02740.9 31
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009059 29
  • 53.28 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y50D7A.10 30
  • 40 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 42 (a)
ManyToMany
-- 30
  • 37 (a)
ManyToMany
-- 30
  • 37 (a)
ManyToMany
Species where no ortholog for GMFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for GMFB Gene

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

Paralogs for GMFB Gene

Paralogs for GMFB Gene

(1) SIMAP similar genes for GMFB Gene using alignment to 4 proteins:

  • GMFB_HUMAN
  • G3V3X4_HUMAN
  • G3V4P8_HUMAN
  • Q9BS35_HUMAN

Pseudogenes.org Pseudogenes for GMFB Gene

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

Variants for GMFB Gene

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

Variant ID Type Subtype PubMed ID
nsv819843 CNV loss 19587683
nsv832802 CNV loss 17160897

Variation tolerance for GMFB Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GMFB Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GMFB Gene

Disorders for GMFB Gene

MalaCards: The human disease database

(2) MalaCards diseases for GMFB Gene - From: COP

Disorder Aliases PubMed IDs
arthrogryposis multiplex congenita 2, neurogenic type
  • amc2
large congenital melanocytic nevus
  • congenital pigmented nevus
- elite association - COSMIC cancer census association via MalaCards
Search GMFB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GMFB

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 GMFB: view

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

Publications for GMFB Gene

  1. Molecular cloning and expression of biologically active human glia maturation factor-beta. (PMID: 1712830) Kaplan R … Lim R (Journal of neurochemistry 1991) 2 3 4 22
  2. Phorbol ester stimulates rapid intracellular phosphorylation of glia maturation factor. (PMID: 7598724) Lim R … Zaheer A (Biochemical and biophysical research communications 1995) 3 4 22
  3. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 40
  4. [Effect of glia maturation factor beta on the activation of hepatic stellate cells and on liver fibrosis]. (PMID: 18171522) Rao HY … Wei L (Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2007) 3 22
  5. Glia maturation factor-beta is produced by thymoma and may promote intratumoral T-cell differentiation. (PMID: 16115230) Yamazaki H … Eimoto T (Histopathology 2005) 3 22

Products for GMFB Gene

Sources for GMFB Gene