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Aliases for GMFB Gene

Aliases for GMFB Gene

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

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 Long Qt Syndrome 1. 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 for GMFB Gene

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

Additional gene information for GMFB Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GMFB Gene

Genomics for GMFB Gene

GeneHancer (GH) Regulatory Elements for GMFB Gene

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
GH14I054487 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.2 -243 3.8 HDGF PKNOX1 CLOCK ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF207 GMFB ATG14 BMP4 MAPK1IP1L SOCS4 ENSG00000259318 CGRRF1 CNIH1 WDHD1 GC14P054145
GH14I054502 Enhancer 0.7 FANTOM5 8.8 -13.6 -13629 0.3 HDAC1 TEAD4 TAL1 TCF12 NCOR1 CBFA2T2 TRIM24 SMARCE1 MTA2 CBFA2T3 GCH1 GMFB CGRRF1 GC14P054145
GH14I054497 Enhancer 0.8 ENCODE 7.1 -8.9 -8910 1.8 ELF3 ARID4B RARA ETS1 CREM THAP11 MIXL1 HMG20B KAT8 NFIL3 CNIH1 GMFB CGRRF1 GC14P054145
GH14I054450 Enhancer 1.2 FANTOM5 Ensembl ENCODE 4.3 +38.0 37968 2.4 SOX13 TFAP4 PKNOX1 MAX CEBPG ZNF644 ZNF48 RARA FOSL1 POLR2A GCH1 CNIH1 GMFB CGRRF1 ENSG00000258753 GC14P054145
GH14I054782 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 3 -295.0 -295044 3.7 CTCF MAX SIN3A IRF4 RAD21 YY1 HNF4G ZNF143 ETV6 MAFK SAMD4A GCH1 WDHD1 GMFB FBXO34 LGALS3 MAPK1IP1L PIR45415 GC14P054860
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GMFB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GMFB gene promoter:

Genomic Locations for GMFB Gene

Genomic Locations for GMFB Gene
chr14:54,474,484-54,489,196
(GRCh38/hg38)
Size:
14,713 bases
Orientation:
Minus strand
chr14:54,941,202-54,955,914
(GRCh37/hg19)

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; Positions=142; Evidence={ECO:0000305}; Sequence=AAP35430.1; Type=Frameshift; Positions=142; Evidence={ECO:0000305};

neXtProt entry for GMFB Gene

Post-translational modifications for GMFB Gene

Other Protein References for GMFB Gene

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

Suggested Antigen Peptide Sequences for GMFB Gene

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:0004871 signal transducer activity TAS 7598724
GO:0008047 enzyme activator activity TAS 8798479
GO:0008083 growth factor activity IEA --
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:

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
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GMFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with GMFB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GMFB Gene

Pathways & Interactions for GMFB Gene

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

Pathways by source for GMFB Gene

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 TAS 8798479
GO:0007399 nervous system development TAS 1712830
GO:0007612 learning IEA --
genes like me logo Genes that share ontologies with GMFB: view

No data available for SIGNOR curated interactions for GMFB Gene

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

Unigene Clusters for GMFB Gene

Glia maturation factor, beta:
Representative Sequences:

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
ECgene alternative splicing isoforms for
GMFB

Expression for GMFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GMFB Gene



Protein tissue co-expression partners for GMFB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GMFB Gene:

GMFB

SOURCE GeneReport for Unigene cluster for GMFB Gene:

Hs.151413

Evidence on tissue expression from TISSUES for GMFB Gene

  • Nervous system(5)
  • Liver(4.2)
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 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia GMFB 34 33
  • 96.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GMFB 33 34
  • 95.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GMFB 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gmfb 33 16 34
  • 90.85 (n)
rat
(Rattus norvegicus)
Mammalia Gmfb 33
  • 90.14 (n)
oppossum
(Monodelphis domestica)
Mammalia GMFB 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves GMFB 33 34
  • 85.21 (n)
lizard
(Anolis carolinensis)
Reptilia GMFB 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gmfg 33
  • 80.28 (n)
Str.7359 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24755 33
zebrafish
(Danio rerio)
Actinopterygii gmfb 33 34
  • 75.89 (n)
wufa97c03 33
fruit fly
(Drosophila melanogaster)
Insecta CG5869 33 34
  • 56.06 (n)
BG:DS02740.9 35
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009059 33
  • 53.28 (n)
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.10 34
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
Species where no ortholog for GMFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for GMFB Gene

Paralogs for GMFB Gene

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

Pseudogenes.org Pseudogenes for GMFB Gene

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

Variants for GMFB Gene

Sequence variations from dbSNP and Humsavar for GMFB Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000039405 -- 54,481,856(-) G/C intron_variant
rs1000330546 -- 54,488,858(-) A/G intron_variant
rs1000663585 -- 54,490,121(-) C/T upstream_transcript_variant
rs1000916542 -- 54,477,551(-) A/C 3_prime_UTR_variant
rs1000966883 -- 54,477,814(-) A/G 3_prime_UTR_variant

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

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

Disorders for GMFB Gene

MalaCards: The human disease database

(1) MalaCards diseases for GMFB Gene - From: DISEASES

Disorder Aliases PubMed IDs
long qt syndrome 1
  • lqt1
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 44 58
  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 58
  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 58

Products for GMFB Gene

Sources for GMFB Gene

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