Human Gene FERMT2 (uc001xad.3)
  Description: Homo sapiens fermitin family member 2 (FERMT2), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr14:53,323,989-53,417,591 Size: 93,603 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr14:53,325,095-53,417,286 Size: 92,192 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:53,323,989-53,417,591)mRNA (may differ from genome)Protein (680 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: FERM2_HUMAN
DESCRIPTION: RecName: Full=Fermitin family homolog 2; AltName: Full=Kindlin-2; AltName: Full=Mitogen-inducible gene 2 protein; Short=MIG-2; AltName: Full=Pleckstrin homology domain-containing family C member 1; Short=PH domain-containing family C member 1;
FUNCTION: Participates in the connection between ECM adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and cell shape modulation. Recruits migfilin (FBLP1) protein to cell-ECM focal adhesion sites.
SUBUNIT: Interacts with FBLP1.
SUBCELLULAR LOCATION: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Note=Within actin stress fibers at cell-ECM focal adhesion sites.
TISSUE SPECIFICITY: Ubiquitous. Found in numerous tumor tissues.
INDUCTION: By serum in lung fetal fibroblast cultured cells.
DOMAIN: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.
SIMILARITY: Belongs to the kindlin family.
SIMILARITY: Contains 1 FERM domain.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=CAA80852.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Wikipedia; Note=FERMT2 entry; URL="http://en.wikipedia.org/wiki/FERMT2";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: FERMT2
Diseases sorted by gene-association score: leukocyte adhesion deficiency, type iii (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: 42.77 RPKM in Artery - Tibial
Total median expression: 754.71 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 -18.7055-0.340 Picture PostScript Text
3' UTR -247.261106-0.224 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
IPR019749 - Band_41_domain
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR018979 - FERM_N
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain
PF00373 - FERM central domain

SCOP Domains:
47031 - Second domain of FERM
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LGX - NMR MuPIT 2LKO - NMR MuPIT 4F7H - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96AC1
FrontTopSide
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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0008289 lipid binding

Biological Process:
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007229 integrin-mediated signaling pathway
GO:0008360 regulation of cell shape
GO:0016055 Wnt signaling pathway
GO:0033622 integrin activation
GO:0034329 cell junction assembly
GO:0034446 substrate adhesion-dependent cell spreading
GO:0048041 focal adhesion assembly
GO:0072657 protein localization to membrane

Cellular Component:
GO:0001725 stress fiber
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0009986 cell surface
GO:0016020 membrane
GO:0030054 cell junction
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0031258 lamellipodium membrane
GO:0031674 I band
GO:0031941 filamentous actin
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK091532 - Homo sapiens cDNA FLJ34213 fis, clone FCBBF3021524, highly similar to Mitogen inducible gene mig-2.
AX747041 - Sequence 566 from Patent EP1308459.
CU675940 - Synthetic construct Homo sapiens gateway clone IMAGE:100018414 5' read PLEKHC1 mRNA.
Z24725 - H.sapiens mitogen inducible gene mig-2, complete CDS.
AF443279 - Homo sapiens mitogen inducible 2 (MIG2) mRNA, complete cds.
AK291738 - Homo sapiens cDNA FLJ77570 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family C (with FERM domain) member 1 (PLEKHC1), mRNA.
BC017327 - Homo sapiens fermitin family homolog 2 (Drosophila), mRNA (cDNA clone MGC:29726 IMAGE:4547604), complete cds.
EU831994 - Synthetic construct Homo sapiens clone HAIB:100067023; DKFZo008H1123 fermitin family homolog 2 (Drosophila) protein (FERMT2) gene, encodes complete protein.
EU979385 - Homo sapiens KINDLIN2 isoform 2 (FERMT2) mRNA, complete cds.
KJ898324 - Synthetic construct Homo sapiens clone ccsbBroadEn_07718 FERMT2 gene, encodes complete protein.
EU832087 - Synthetic construct Homo sapiens clone HAIB:100067116; DKFZo004H1124 fermitin family homolog 2 (Drosophila) protein (FERMT2) gene, encodes complete protein.
BX161467 - human full-length cDNA clone CS0DI065YG09 of Placenta of Homo sapiens (human).
BC011125 - Homo sapiens cDNA clone IMAGE:3445964, containing frame-shift errors.
AK126426 - Homo sapiens cDNA FLJ44462 fis, clone UTERU2024881, highly similar to Mitogen inducible gene mig-2.
CR749486 - Homo sapiens mRNA; cDNA DKFZp686G11125 (from clone DKFZp686G11125).
JD325517 - Sequence 306541 from Patent EP1572962.
JD345156 - Sequence 326180 from Patent EP1572962.
JD426890 - Sequence 407914 from Patent EP1572962.
JD228009 - Sequence 209033 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96AC1 (Reactome details) participates in the following event(s):

R-HSA-430341 Mig-2 recruits Migfilin to the cell-ECM adhesions
R-HSA-446353 Cell-extracellular matrix interactions
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: B5TJY2, FERM2_HUMAN, KIND2, MIG2, NM_006832, NP_006823, PLEKHC1, Q14840, Q86TY7, Q96AC1, Z24725
UCSC ID: uc001xad.3
RefSeq Accession: NM_006832
Protein: Q96AC1 (aka FERM2_HUMAN)
CCDS: CCDS9713.1, CCDS45107.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: Z24725.1
exon count: 15CDS single in 3' UTR: no RNA size: 3270
ORF size: 2043CDS single in intron: no Alignment % ID: 99.81
txCdsPredict score: 4286.00frame shift in genome: no % Coverage: 97.92
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
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.