Aliases for FERMT2 Gene

Aliases for FERMT2 Gene

  • Fermitin Family Member 2 2 3 5
  • Pleckstrin Homology Domain Containing, Family C (With FERM Domain) Member 1 2 3
  • PH Domain-Containing Family C Member 1 3 4
  • Fermitin Family Homolog 2 3 4
  • Kindlin-2 2 4
  • PLEKHC1 3 4
  • KIND2 3 4
  • MIG2 3 4
  • Pleckstrin Homology Domain Containing, Family C Member 1 3
  • Pleckstrin Homology Domain-Containing Family C Member 1 4
  • Fermitin Family Homolog 2 (Drosophila) 2
  • Mitogen Inducible Gene 2 Protein 3
  • Mitogen-Inducible Gene 2 Protein 4
  • Kindlin 2 3
  • UNC112B 3
  • UNC112 3
  • Mig-2 3
  • MIG-2 4

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 and Leukocyte Adhesion Deficiency, Type I. Among its related pathways are Adhesion and MAPK-Erk Pathway. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is FERMT1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for FERMT2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FERMT2 Gene

Genomics for FERMT2 Gene

GeneHancer (GH) Regulatory Elements for FERMT2 Gene

Promoters and enhancers for FERMT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FERMT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FERMT2

Top Transcription factor binding sites by QIAGEN in the FERMT2 gene promoter:
  • deltaCREB
  • Egr-2
  • FOXD3
  • HNF-1
  • HNF-1A
  • SEF-1 (1)
  • Sox9
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for FERMT2 Gene

Genomic Locations for FERMT2 Gene
chr14:52,857,268-52,952,435
(GRCh38/hg38)
Size:
95,168 bases
Orientation:
Minus strand
chr14:53,323,986-53,419,153
(GRCh37/hg19)
Size:
95,168 bases
Orientation:
Minus strand

Genomic View for FERMT2 Gene

Genes around FERMT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FERMT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.
    Miscellaneous:
    • [Isoform 2]: May be due to an exon inclusion and an intron retention.
    SequenceCaution:
    • Sequence=CAA80852.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Post-translational modifications for FERMT2 Gene

  • Ubiquitination at Lys285
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FERMT2 Gene

Domains & Families for FERMT2 Gene

Gene Families for FERMT2 Gene

Protein Domains for FERMT2 Gene

Suggested Antigen Peptide Sequences for FERMT2 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family C member 1 (FERM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96AC1

UniProtKB/Swiss-Prot:

FERM2_HUMAN :
  • The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.
  • Belongs to the kindlin family.
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.
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.

Phenotypes From GWAS Catalog for FERMT2 Gene

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
GO:0008289 lipid binding IEA --
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with FERMT2: view
genes like me logo Genes that share phenotypes with FERMT2: view

Animal Models for FERMT2 Gene

MGI Knock Outs for FERMT2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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. Cytoplasm, cytoskeleton, stress fiber. 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
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 FERMT2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
  • Nucleoplasm (3)
See all subcellular structures

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,IEA 22699938
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 22699938
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FERMT2: view

Pathways & Interactions 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
  • ILK Signaling
2 Cell Signaling Technology pathways for FERMT2 Gene

Gene Ontology (GO) - Biological Process for FERMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion ISS,IEA --
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 --
genes like me logo Genes that share ontologies with FERMT2: view

No data available for SIGNOR curated interactions for FERMT2 Gene

Drugs & Compounds for FERMT2 Gene

No Compound Related Data Available

Transcripts for FERMT2 Gene

mRNA/cDNA for FERMT2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for FERMT2 Gene

GeneLoc Exon Structure for
FERMT2

Expression for FERMT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FERMT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FERMT2 Gene

This gene is overexpressed in Uterus (9.1), Prostate (8.4), and Urinary Bladder (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FERMT2 Gene



Protein tissue co-expression partners for FERMT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FERMT2

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.

Evidence on tissue expression from TISSUES for FERMT2 Gene

  • Liver(4.4)
  • Lung(4.3)
  • Nervous system(2.8)
  • Heart(2.3)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with FERMT2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.81 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FERMT2 31
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FERMT2 31
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FERMT2 31 30
  • 94.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FERMT2 31 30
  • 92.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fermt2 17 31 30
  • 89.46 (n)
rat
(Rattus norvegicus)
Mammalia Fermt2 30
  • 88.92 (n)
chicken
(Gallus gallus)
Aves FERMT2 31
  • 93 (a)
OneToOne
PLEKHC1 30
  • 80.35 (n)
lizard
(Anolis carolinensis)
Reptilia FERMT2 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fermt2 30
  • 82.44 (n)
Str.10934 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3392 30
zebrafish
(Danio rerio)
Actinopterygii fermt2 31 30
  • 76.56 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fit1 31 30
  • 55.01 (n)
ManyToMany
Fit2 31
  • 42 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002054 30
  • 53.69 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-112 31 30
  • 53.17 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for FERMT2 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 FERMT2 Gene

ENSEMBL:
Gene Tree for FERMT2 (if available)
TreeFam:
Gene Tree for FERMT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FERMT2: view image

Paralogs for FERMT2 Gene

Paralogs for FERMT2 Gene

(3) SIMAP similar genes for FERMT2 Gene using alignment to 7 proteins:

  • FERM2_HUMAN
  • G3V281_HUMAN
  • G3V379_HUMAN
  • G3V3J0_HUMAN
  • G3V5R2_HUMAN
  • H0YJ34_HUMAN
  • H0YJB6_HUMAN
genes like me logo Genes that share paralogs with FERMT2: view