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Aliases for FERMT2 Gene

Aliases for FERMT2 Gene

  • Fermitin Family Member 2 2 3
  • Kindlin-2 2 3 4
  • PLEKHC1 3 4 6
  • KIND2 3 4 6
  • MIG2 3 4 6
  • Pleckstrin Homology Domain Containing, Family C (With FERM Domain) Member 1 2 3
  • Pleckstrin Homology Domain-Containing Family C Member 1 3 4
  • PH Domain-Containing Family C Member 1 3 4
  • Mitogen-Inducible Gene 2 Protein 3 4
  • UNC112 3 6
  • Mig-2 3 4
  • Pleckstrin Homology Domain Containing, Family C Member 1 3
  • Fermitin Family Homolog 2 (Drosophila) 2
  • Mitogen Inducible Gene 2 Protein 3
  • Fermitin Family Homolog 2 3
  • Kindlin 2 3
  • UNC112B 3

External Ids for FERMT2 Gene

Previous HGNC Symbols for FERMT2 Gene

  • PLEKHC1

Previous GeneCards Identifiers for FERMT2 Gene

  • GC14M052394
  • GC14M053323
  • GC14M033486

Summaries for FERMT2 Gene

GeneCards Summary for FERMT2 Gene

FERMT2 (Fermitin Family Member 2) is a Protein Coding gene. Diseases associated with FERMT2 include kindler syndrome. Among its related pathways are ERK Signaling and Cell junction organization. GO annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is FERMT3.

UniProtKB/Swiss-Prot for FERMT2 Gene

  • Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Plays a role in the TGFB1 and integrin signaling pathways. Stabilizes active CTNNB1 and plays a role in the regulation of transcription mediated by CTNNB1 and TCF7L2/TCF4 and in Wnt signaling.

Gene Wiki entry for FERMT2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FERMT2 Gene

Genomics for FERMT2 Gene

Regulatory Elements for FERMT2 Gene

Genomic Location for FERMT2 Gene

Start:
52,857,268 bp from pter
End:
52,952,435 bp from pter
Size:
95,168 bases
Orientation:
Minus strand

Genomic View for FERMT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FERMT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FERMT2 Gene

Proteins for FERMT2 Gene

  • Protein details for FERMT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AC1-FERM2_HUMAN
    Recommended name:
    Fermitin family homolog 2
    Protein Accession:
    Q96AC1
    Secondary Accessions:
    • B5TJY2
    • Q14840
    • Q86TY7

    Protein attributes for FERMT2 Gene

    Size:
    680 amino acids
    Molecular mass:
    77861 Da
    Quaternary structure:
    • Interacts with ILK (By similarity). Interacts with FBLIM1. Interacts with ITGB1 and ITGB3. Interacts with active, unphosphorylated CTNNB1. Identified in a complex with CTNNB1 and TCF7L2/TCF4. Interacts with ITGB1; the interaction is inhibited in presence of ITGB1BP1.
    SequenceCaution:
    • Sequence=CAA80852.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FERMT2 Gene

    Alternative splice isoforms for FERMT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FERMT2 Gene

Proteomics data for FERMT2 Gene at MOPED

Post-translational modifications for FERMT2 Gene

  • Ubiquitination at Lys285
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FERMT2 Gene

Domains for FERMT2 Gene

Gene Families for FERMT2 Gene

HGNC:
  • FERMT :Fermitins
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for FERMT2 Gene

Suggested Antigen Peptide Sequences for FERMT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96AC1

UniProtKB/Swiss-Prot:

FERM2_HUMAN :
  • Q96AC1
Domain:
  • The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain
  • The PH domain binds phospholipids. Binds preferentially phosphatidylinositol-3,4,5-trisphosphate, and has lower affinity for phosphatidylinositol-4,5-bisphosphate (PubMed:22030399).
  • The N-terminal region displays a ubiquitin-type fold and mediates interaction with membranes containing negatively charged phosphatidylinositol phosphate via a surface enriched in positively charged residues.
  • Contains 1 FERM domain.
  • Contains 1 PH domain.
Family:
  • Belongs to the kindlin family.
genes like me logo Genes that share domains with FERMT2: view

Function for FERMT2 Gene

Molecular function for FERMT2 Gene

UniProtKB/Swiss-Prot Function: Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Plays a role in the TGFB1 and integrin signaling pathways. Stabilizes active CTNNB1 and plays a role in the regulation of transcription mediated by CTNNB1 and TCF7L2/TCF4 and in Wnt signaling.
UniProtKB/Swiss-Prot Induction: By serum in lung fetal fibroblast cultured cells.

Gene Ontology (GO) - Molecular Function for FERMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22699938
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 21325030
genes like me logo Genes that share ontologies with FERMT2: view

Phenotypes for FERMT2 Gene

genes like me logo Genes that share phenotypes with FERMT2: view

Animal Models for FERMT2 Gene

MGI Knock Outs for FERMT2:

miRNA for FERMT2 Gene

miRTarBase miRNAs that target FERMT2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FERMT2 Gene

Localization for FERMT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FERMT2 Gene

Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Cytoplasm, myofibril, sarcomere, I band. Cell surface. Note=Colocalizes with actin stress fibers at cell-ECM focal adhesion sites. Colocalizes with ITGB3 at lamellipodia at the leading edge of spreading cells. Binds to membranes that contain phosphatidylinositides.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FERMT2 Gene COMPARTMENTS Subcellular localization image for FERMT2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for FERMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005634 nucleus IDA 22699938
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 22699938
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FERMT2: view

Pathways for FERMT2 Gene

genes like me logo Genes that share pathways with FERMT2: view

Pathways by source for FERMT2 Gene

1 Qiagen pathway for FERMT2 Gene

Gene Ontology (GO) - Biological Process for FERMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion ISS --
GO:0007179 transforming growth factor beta receptor signaling pathway IMP 21325030
GO:0007229 integrin-mediated signaling pathway IMP 21325030
GO:0008360 regulation of cell shape IEA --
GO:0016055 Wnt signaling pathway IMP 22699938
genes like me logo Genes that share ontologies with FERMT2: view

Transcripts for FERMT2 Gene

Unigene Clusters for FERMT2 Gene

Fermitin family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FERMT2 Gene

No ASD Table

Relevant External Links for FERMT2 Gene

GeneLoc Exon Structure for
FERMT2
ECgene alternative splicing isoforms for
FERMT2

Expression for FERMT2 Gene

mRNA expression in normal human tissues for FERMT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FERMT2 Gene

SOURCE GeneReport for Unigene cluster for FERMT2 Gene Hs.509343

mRNA Expression by UniProt/SwissProt for FERMT2 Gene

Q96AC1-FERM2_HUMAN
Tissue specificity: Ubiquitous. Found in numerous tumor tissues
genes like me logo Genes that share expressions with FERMT2: view

No data available for mRNA differential expression in normal tissues for FERMT2 Gene

Orthologs for FERMT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FERMT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FERMT2 35
  • 99.81 (n)
  • 100 (a)
FERMT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FERMT2 35
  • 94.75 (n)
  • 99.85 (a)
FERMT2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FERMT2 35
  • 92.23 (n)
  • 95.43 (a)
FERMT2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fermt2 35
  • 89.46 (n)
  • 98.24 (a)
Fermt2 16
Fermt2 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FERMT2 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FERMT2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fermt2 35
  • 88.92 (n)
  • 98.53 (a)
chicken
(Gallus gallus)
Aves FERMT2 36
  • 93 (a)
OneToOne
PLEKHC1 35
  • 80.35 (n)
  • 95.78 (a)
lizard
(Anolis carolinensis)
Reptilia FERMT2 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3392 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fermt2 35
  • 82.44 (n)
  • 94.61 (a)
Str.10934 35
zebrafish
(Danio rerio)
Actinopterygii fermt2 35
  • 76.56 (n)
  • 91.23 (a)
fermt2 36
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002054 35
  • 53.69 (n)
  • 52.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta Fit1 35
  • 55.01 (n)
  • 51.84 (a)
Fit1 36
  • 45 (a)
ManyToMany
Fit2 36
  • 42 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-112 35
  • 53.17 (n)
  • 46.73 (a)
unc-112 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
Species with no ortholog for FERMT2:
  • 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 FERMT2 Gene

ENSEMBL:
Gene Tree for FERMT2 (if available)
TreeFam:
Gene Tree for FERMT2 (if available)

Paralogs for FERMT2 Gene

Paralogs for FERMT2 Gene

Selected SIMAP similar genes for FERMT2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with FERMT2: view

Variants for FERMT2 Gene

Sequence variations from dbSNP and Humsavar for FERMT2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs912861 -- 52,866,572(+) TAGCA(C/G)TGCAA intron-variant
rs957190 -- 52,923,902(-) ACTTC(A/G)CTGTC intron-variant
rs957191 -- 52,923,849(-) ATTGA(C/T)ACTTC intron-variant
rs957192 -- 52,923,651(-) ATCCT(A/G)TCCCC intron-variant
rs1112777 -- 52,940,857(+) CCTGA(C/T)AGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FERMT2 Gene

Variant ID Type Subtype PubMed ID
nsv832796 CNV Loss 17160897
nsv820177 CNV Loss 19587683
nsv901953 CNV Gain 21882294
nsv832797 CNV Gain 17160897

Relevant External Links for FERMT2 Gene

HapMap Linkage Disequilibrium report
FERMT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FERMT2 Gene

Disorders for FERMT2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for FERMT2 Gene including...

Search for FERMT2 Gene in MalaCards »
genes like me logo Genes that share disorders with FERMT2: view

No data available for UniProtKB/Swiss-Prot for FERMT2 Gene

Publications for FERMT2 Gene

  1. Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. (PMID: 12679033) Tu Y. … Wu C. (Cell 2003) 3 4 23
  2. Kindlin-2 (Mig-2): a co-activator of beta3 integrins. (PMID: 18458155) Ma Y.Q. … Plow E.F. (J. Cell Biol. 2008) 3 4 23
  3. Identification of serum-inducible genes: different patterns of gene regulation during G0->S and G1->S progression. (PMID: 8175911) Wick M. … Mueller R. (J. Cell Sci. 1994) 2 3 4
  4. URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas. (PMID: 12697302) Weinstein E.J. … Mazzarella R. (Biochim. Biophys. Acta 2003) 2 3 4
  5. Structural basis of phosphoinositide binding to kindlin-2 protein pleckstrin homology domain in regulating integrin activation. (PMID: 22030399) Liu J. … Qin J. (J. Biol. Chem. 2011) 3 4

Products for FERMT2 Gene

Sources for FERMT2 Gene

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