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Aliases for FERMT2 Gene
Aliases for FERMT2 Gene
External Ids for FERMT2 Gene
- HGNC: 15767
- NCBI Entrez Gene: 10979
- Ensembl: ENSG00000073712
- OMIM®: 607746
- UniProtKB/Swiss-Prot: Q96AC1
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 Cell junction organization and ERK Signaling. 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.
Additional gene information for FERMT2 Gene
- HGNC (15767)
- NCBI Entrez Gene (10979)
- Ensembl (ENSG00000073712)
- OMIM® (607746)
- UniProtKB/Swiss-Prot (Q96AC1)
- Open Targets Platform(ENSG00000073712)
- Monarch Initiative
- Search for FERMT2 at DataMed
- Search for FERMT2 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr14:52,857,268-52,952,435
- (GRCh38/hg38)
- Size:
- 95,168 bases
- Orientation:
- Minus strand
Previous Assembly
- chr14:53,323,991-53,417,768
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 93,778 bases
- Orientation:
- Minus strand
- chr14:53,323,986-53,419,153
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 14q22.1 by HGNC
- 14q22.1 by Entrez Gene
- 14q22.1 by Ensembl
FERMT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Extended N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 2]: May be due to an exon inclusion and an intron retention.
Three dimensional structures from OCA and Proteopedia for FERMT2 Gene
Protein Expression for FERMT2 Gene
Post-translational modifications for FERMT2 Gene
Other Protein References for FERMT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences KIND2 / FERMT2 Monoclonal Antibody (LS-B12926) and KIND2 / FERMT2 Monoclonal Antibody (LS-B14321)
- G Biosciences Immunotag™ Kindlin 2 Antibody
- GeneTex Anti-Mig-2 antibody [9E4]
- Novus Biologicals Antibodies for FERMT2
-
Abcam antibodies for FERMT2
- Invitrogen Antibodies for FERMT2 (AFLGC-FERMT2)
-
Boster Bio Antibodies for FERMT2
-
Custom Antibody ServicesProSci Antibodies for FERMT2
-
Santa Cruz Biotechnology (SCBT) Antibodies for FERMT2
Protein products for research
-
OriGene Purified Proteins for FERMT2
- Search Origene for MassSpec and Protein Over-expression Lysates for FERMT2
- Origene Custom Protein Services for FERMT2
-
Abcam proteins for FERMT2
Assay products for research
- G Biosciences Immunotag™ Fermitin family homolog 2 ELISA Kit
- antibodies-online: Show 5 available FERMT2 Elisa Kits ranked by validation data
- Compare Top FERMT2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for FERMT2 Gene
Domains & Families for FERMT2 Gene
Gene Families for FERMT2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for FERMT2 Gene
- InterPro:
- Blocks:
-
- Pleckstrin-like
- ProtoNet:
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
Q96AC1UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IMP | 29496737 |
| GO:0005178 | integrin binding | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 22699938 |
| GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding | IDA | 21325030 |
| GO:0008289 | lipid binding | IEA | -- |
Phenotypes for FERMT2 Gene
- MGI mutant phenotypes for FERMT2:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for FERMT2:
Animal Models for FERMT2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FERMT2 - Starting at $85 >
- * FERMT2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FERMT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FERMT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FERMT2
miRNA for FERMT2 Gene
- miRTarBase miRNAs that target FERMT2
-
- hsa-miR-1-3p (MIRT005281)
- mmu-miR-301b-3p (MIRT007960)
- mmu-miR-15a-5p (MIRT011785)
- mmu-miR-297a-5p (MIRT012983)
- hsa-miR-21-5p (MIRT031065)
- hsa-miR-30b-5p (MIRT046125)
- hsa-miR-200b-3p (MIRT054683)
- hsa-miR-218-5p (MIRT440645)
- hsa-miR-4423-3p (MIRT507260)
- hsa-miR-6131 (MIRT507261)
- hsa-miR-133a-5p (MIRT507262)
- hsa-miR-3166 (MIRT507263)
- hsa-miR-4299 (MIRT507264)
- hsa-miR-1324 (MIRT507265)
- hsa-miR-4728-3p (MIRT507266)
- hsa-miR-8062 (MIRT507267)
- hsa-miR-449c-5p (MIRT507268)
- hsa-miR-34b-5p (MIRT507269)
- hsa-miR-2682-5p (MIRT507270)
- hsa-miR-940 (MIRT507271)
- hsa-miR-6893-5p (MIRT507272)
- hsa-miR-6808-5p (MIRT507273)
- hsa-miR-6511a-5p (MIRT507274)
- hsa-miR-1910-3p (MIRT507275)
- hsa-miR-8084 (MIRT507276)
- hsa-miR-138-5p (MIRT507277)
- mmu-miR-125b-2-3p (MIRT593116)
- mmu-miR-224-5p (MIRT593117)
- mmu-miR-1298-5p (MIRT593118)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FERMT2
- Browse OriGene Inhibitory RNA Products For FERMT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FERMT2
Clone products for research
- Applied Biological Materials (abm): Clones for FERMT2 - Starting at $45 >
- * FERMT2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209996
- MR209996
- MR209996L3
- MR209996L4
- RC205727
- RC205727L1
- RC205727L2
- RC205727L3
- RC205727L4
- RC226047
- RC226047L3
- RC226047L4
- RC226092
- RC226092L3
- RC226092L4
- RG205727
- RG226047
- RG226092
- RR204382
- RR204382L3
- RR204382L4
- MR209996L3V
- MR209996L4V
- RC205727L1V
- RC205727L2V
- RC205727L3V
- RC205727L4V
- RC226047L3V
- RC226047L4V
- RC226092L3V
- RC226092L4V
- RR204382L3V
- RR204382L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FERMT2
- Addgene plasmids for FERMT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FERMT2
Cell Lines for research
-
Horizon Cell Lines for FERMT2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 3 |
| extracellular | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Focal adhesion sites (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001725 | stress fiber | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 22699938 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 18528435 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for FERMT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell junction organization | ||
| 2 | Adhesion |
-
|
|
| 3 | Cytoskeletal Signaling | ||
| 4 | Actin Dynamics Signaling Pathway | ||
| 5 | Autophagy Pathway | ||
Pathways by source for FERMT2 Gene
2 Sino Biological pathways for FERMT2 Gene
3 Reactome pathways for FERMT2 Gene
1 Qiagen pathway for FERMT2 Gene
- ILK Signaling
2 Cell Signaling Technology pathways for FERMT2 Gene
Interacting Proteins for FERMT2 Gene
Selected Interacting proteins:
Q96AC1-FERM2_HUMAN
ENSP00000342858
for FERMT2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FERMT2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | IMP | 30382829 |
| GO:0007160 | cell-matrix adhesion | IEA,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 | -- |
No data available for SIGNOR curated interactions for FERMT2 Gene
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 :
-
- ENST00000341590 3286 nts (view in UCSC)
- ENST00000343279 3247 nts (view in UCSC)
- ENST00000395631 3369 nts (view in UCSC)
- ENST00000399304 2082 nts (view in UCSC)
- ENST00000553373 2064 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FERMT2 - Starting at $85 >
- * FERMT2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FERMT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FERMT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FERMT2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FERMT2
- Browse OriGene Inhibitory RNA Products For FERMT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FERMT2
Clone products for research
- Applied Biological Materials (abm): Clones for FERMT2 - Starting at $45 >
- * FERMT2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209996
- MR209996
- MR209996L3
- MR209996L4
- RC205727
- RC205727L1
- RC205727L2
- RC205727L3
- RC205727L4
- RC226047
- RC226047L3
- RC226047L4
- RC226092
- RC226092L3
- RC226092L4
- RG205727
- RG226047
- RG226092
- RR204382
- RR204382L3
- RR204382L4
- MR209996L3V
- MR209996L4V
- RC205727L1V
- RC205727L2V
- RC205727L3V
- RC205727L4V
- RC226047L3V
- RC226047L4V
- RC226092L3V
- RC226092L4V
- RR204382L3V
- RR204382L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FERMT2
- Addgene plasmids for FERMT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FERMT2
Relevant External Links for FERMT2 Gene
- GeneLoc Exon Structure for
- FERMT2
Expression for FERMT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Mononuclear Myocytes Sacral Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Primary Epaxial Myotome
-
Somite (Muscoskeletal System)
- Mononuclear Myocytes Sacral Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Epaxial Myotome
-
Limb (Muscoskeletal System)
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Mononuclear Myocytes Forelimb Dorsal Muscles
- Mononuclear Myocytes Hindlimb Dorsal Muscle
- Mononuclear Myocytes Forelimb Ventral Muscles
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Liver (Hepatobiliary System)
-
Adipose (Muscoskeletal System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FERMT2
SOURCE GeneReport for Unigene cluster for FERMT2 Gene:
Hs.509343mRNA 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(4.5)
- Lung(4.4)
- Nervous system(3.3)
- Heart(2.8)
- Muscle(2.6)
- Kidney(2.5)
- Intestine(2.3)
- Blood(2.1)
- Skin(2.1)
- Spleen(2)
Primer products for research
-
OriGene qPCR primer pairs for FERMT2
-
OriGene qPCR primer pairs and template standards for FERMT2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FERMT2 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FERMT2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FERMT2 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FERMT2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FERMT2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Fermt2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fermt2 30 |
|
||
| Chicken (Gallus gallus) |
Aves | FERMT2 31 |
|
OneToOne | |
| PLEKHC1 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | FERMT2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fermt2 30 |
|
||
| Str.10934 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3392 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fermt2 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Fit1 30 31 |
|
ManyToMany | |
| Fit2 31 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002054 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | unc-112 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for FERMT2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Variants for FERMT2 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3551569 | CNV | deletion | 23714750 |
| esv3892546 | CNV | gain | 25118596 |
| nsv1050582 | CNV | gain | 25217958 |
| nsv820177 | CNV | loss | 19587683 |
| nsv832796 | CNV | loss | 17160897 |
| nsv832797 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.42;
27.82% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FERMT2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FERMT2
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FERMT2 Gene
Disorders for FERMT2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kindler syndrome |
|
|
| leukocyte adhesion deficiency, type i |
|
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| leukocyte adhesion deficiency, type iii |
|
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| combined immunodeficiency |
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|
Search FERMT2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FERMT2
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for FERMT2 Gene
Publications for FERMT2 Gene
- Kindlin-2 (Mig-2): a co-activator of beta3 integrins. (PMID: 18458155) Ma YQ … Plow EF (The Journal of cell biology 2008) 3 4 23
- 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 EJ … Mazzarella R (Biochimica et biophysica acta 2003) 2 3 4
- 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
- Identification of serum-inducible genes: different patterns of gene regulation during G0-->S and G1-->S progression. (PMID: 8175911) Wick M … Müller R (Journal of cell science 1994) 2 3 4
- Kindlin 2 forms a transcriptional complex with β-catenin and TCF4 to enhance Wnt signalling. (PMID: 22699938) Yu Y … Zhang H (EMBO reports 2012) 3 4
ExternalLinks
Products for FERMT2 Gene
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Sources for FERMT2 Gene
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