Human Gene GMFB (uc021rtf.1)
  Description: Homo sapiens glia maturation factor, beta (GMFB), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr14:54,941,209-54,955,744 Size: 14,536 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr14:54,944,806-54,955,645 Size: 10,840 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:54,941,209-54,955,744)mRNA (may differ from genome)Protein (142 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GMFB_HUMAN
DESCRIPTION: RecName: Full=Glia maturation factor beta; Short=GMF-beta;
FUNCTION: This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells.
PTM: Phosphorylated; stimulated by phorbol ester.
SIMILARITY: Belongs to the actin-binding proteins ADF family. GMF subfamily.
SIMILARITY: Contains 1 ADF-H domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GMFB
CDC HuGE Published Literature: GMFB

-  MalaCards Disease Associations
  MalaCards Gene Search: GMFB
Diseases sorted by gene-association score: long qt syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.83 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 478.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.7099-0.421 Picture PostScript Text
3' UTR -867.193597-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002108 - Actin-bd_cofilin/tropomyosin
IPR011171 - GMF-beta

Pfam Domains:
PF00241 - Cofilin/tropomyosin-type actin-binding protein

SCOP Domains:
55753 - Actin depolymerizing proteins

ModBase Predicted Comparative 3D Structure on P60983
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0004860 protein kinase inhibitor activity
GO:0004871 signal transducer activity
GO:0008047 enzyme activator activity
GO:0008083 growth factor activity
GO:0071933 Arp2/3 complex binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0006469 negative regulation of protein kinase activity
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0007612 learning
GO:0007626 locomotory behavior
GO:0010469 regulation of receptor activity
GO:0034316 negative regulation of Arp2/3 complex-mediated actin nucleation
GO:0043085 positive regulation of catalytic activity

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  AB209240 - Homo sapiens mRNA for glia maturation factor, beta variant protein.
BX647679 - Homo sapiens mRNA; cDNA DKFZp686F02112 (from clone DKFZp686F02112).
JD280484 - Sequence 261508 from Patent EP1572962.
AB001106 - Homo sapiens mRNA for glia maturation factor, complete cds.
LP895301 - Sequence 165 from Patent EP3253886.
JD325242 - Sequence 306266 from Patent EP1572962.
JD090719 - Sequence 71743 from Patent EP1572962.
JD236054 - Sequence 217078 from Patent EP1572962.
JD184693 - Sequence 165717 from Patent EP1572962.
JD110056 - Sequence 91080 from Patent EP1572962.
JD333723 - Sequence 314747 from Patent EP1572962.
JD063594 - Sequence 44618 from Patent EP1572962.
JD554072 - Sequence 535096 from Patent EP1572962.
JD166584 - Sequence 147608 from Patent EP1572962.
JD359772 - Sequence 340796 from Patent EP1572962.
JD090886 - Sequence 71910 from Patent EP1572962.
JD520895 - Sequence 501919 from Patent EP1572962.
JD455871 - Sequence 436895 from Patent EP1572962.
JD357247 - Sequence 338271 from Patent EP1572962.
BC005359 - Homo sapiens glia maturation factor, beta, mRNA (cDNA clone MGC:12462 IMAGE:3681628), complete cds.
JD236811 - Sequence 217835 from Patent EP1572962.
JD090446 - Sequence 71470 from Patent EP1572962.
JD359667 - Sequence 340691 from Patent EP1572962.
JD262982 - Sequence 244006 from Patent EP1572962.
JD433579 - Sequence 414603 from Patent EP1572962.
M86492 - Human glia maturation factor beta mRNA, complete cds.
JD301424 - Sequence 282448 from Patent EP1572962.
BT006784 - Homo sapiens glia maturation factor, beta mRNA, complete cds.
CU675139 - Synthetic construct Homo sapiens gateway clone IMAGE:100016710 5' read GMFB mRNA.
KJ901455 - Synthetic construct Homo sapiens clone ccsbBroadEn_10849 GMFB gene, encodes complete protein.
AK311753 - Homo sapiens cDNA, FLJ92012, Homo sapiens glia maturation factor, beta (GMFB), mRNA.
AB590473 - Synthetic construct DNA, clone: pFN21AB6780, Homo sapiens GMFB gene for glia maturation factor, beta, without stop codon, in Flexi system.
CR542113 - Homo sapiens full open reading frame cDNA clone RZPDo834E0837D for gene GMFB, glia maturation factor, beta; complete cds, without stopcodon.
JD455432 - Sequence 436456 from Patent EP1572962.
JD484456 - Sequence 465480 from Patent EP1572962.
JD408798 - Sequence 389822 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R499, GMFB_HUMAN, NM_004124, NP_004115, P17774, P60983
UCSC ID: uc021rtf.1
RefSeq Accession: NM_004124
Protein: P60983 (aka GMFB_HUMAN)
CCDS: CCDS9718.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004124.2
exon count: 7CDS single in 3' UTR: no RNA size: 4125
ORF size: 429CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 986.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.