Aliases for FERMT2 Gene
Aliases for FERMT2 Gene
External Ids for FERMT2 Gene
- HGNC: 15767
- Entrez Gene: 10979
- Ensembl: ENSG00000073712
- OMIM: 607746
- UniProtKB: 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 Leukocyte Adhesion Deficiency, Type Iii. Among its related pathways are Adhesion and Cell junction organization. GO annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is FERMT1.
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.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FERMT2 Gene
Genomics for FERMT2 Gene
Regulatory Elements for FERMT2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH14G052852 | 1.4 | Ensembl ENCODE dbSUPER | 4.5 | +99.2 | 99247 | 1.2 | HDAC1 ELF3 FOXA2 THRB RAD21 RARA YY1 TCF12 GATA4 ELK1 | STYX FERMT2 GC14P052872 ENSG00000258698 |
| GH14G052844 | 1.3 | Ensembl ENCODE dbSUPER | 4.4 | +107.4 | 107388 | 1.7 | ELF3 SOX13 FOXA2 SAP130 ZNF384 ZBTB40 RARA TEAD3 GATA3 CTBP1 | STYX FERMT2 GC14P052872 ENSG00000258698 |
| GH14G053536 | 1.2 | Ensembl ENCODE dbSUPER | 4.5 | -586.0 | -586028 | 3.7 | GATAD2A CTCF ZNF654 FOXA2 TEAD1 HLF TRIM22 ZNF2 RAD21 KAT8 | FERMT2 GC14P053502 GC14P053501 GC14M053511 |
| GH14G053549 | 0.8 | FANTOM5 ENCODE | 5.5 | -597.9 | -597866 | 0.9 | GATA2 JUN FOS NR2F2 | FERMT2 GC14M053511 GC14P053502 GC14P053501 |
| GH14G052846 | 0.4 | dbSUPER | 4.6 | +105.3 | 105271 | 1.2 | ZNF366 ZNF512 | FERMT2 ERO1A GC14P052872 ENSG00000258698 |
Regulatory Element Products
Genomic Location for FERMT2 Gene
- Chromosome:
- 14
- 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
- Cytogenetic band:
-
- 14q22.1 by Ensembl
- 14q22.1 by Entrez Gene
- 14q22.1 by HGNC
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=Translation N-terminally shortened.; Evidence={ECO:0000305};
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:
Antibody Products
- EMD Millipore top FERMT2 Antibody
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-
Abcam antibodies for FERMT2
- Invitrogen Antibodies for FERMT2
- antibodies-online Antibodies for FERMT2: See all 54
- GeneTex FERMT2 antibody for FERMT2
-
Santa Cruz Biotechnology (SCBT) Antibodies for FERMT2
Protein Products
-
OriGene Purified Proteins for FERMT2
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- antibodies-online Proteins for FERMT2: See all 5
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- Search GeneTex for Proteins for FERMT2
-
Abcam proteins for FERMT2
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FERMT2 Gene
- GenScript: Design optimal peptide antigens:
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.
| 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 | -- |
Phenotypes for FERMT2 Gene
- MGI mutant phenotypes for FERMT2:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for FERMT2:
Animal Model Products
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-
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CRISPR Products
-
OriGene CRISPR knockouts for FERMT2
-
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miRNA for FERMT2 Gene
- miRTarBase miRNAs that target FERMT2
-
- hsa-mir-1-3p (MIRT005281)
- 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)
miRNA Products
- Search ViGene Biosciences for FERMT2
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for FERMT2
-
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ViGene Biosciences lentiviral particle packaged cDNA for FERMT2 gene
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Flow Cytometry 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. 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.
| 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 | 22699938 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for FERMT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell junction organization | ||
| 2 | MAPK-Erk Pathway |
.38
|
|
| 3 | Adhesion |
-
|
|
| 4 | Cytoskeletal Signaling | ||
| 5 | ERK Signaling |
.49
|
|
Pathways by source for FERMT2 Gene
2 Sino Biological pathways for FERMT2 Gene
2 Cell Signaling Technology pathways for FERMT2 Gene
3 Reactome pathways for FERMT2 Gene
1 Qiagen pathway for FERMT2 Gene
Interacting Proteins for FERMT2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | IEA | -- |
| 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
- (7) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (174) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FERMT2 Gene
- Fermitin family member 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for FERMT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FERMT2
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miRNA Products
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Inhibitory RNA Products
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-
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Clone Products
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Flow Cytometry Products
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)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FERMT2 Gene
NURSA nuclear receptor signaling pathways regulating expression of FERMT2 Gene:
FERMT2SOURCE GeneReport for Unigene cluster for FERMT2 Gene:
Hs.509343mRNA Expression by UniProt/SwissProt for FERMT2 Gene:
Q96AC1-FERM2_HUMANEvidence on tissue expression from TISSUES for FERMT2 Gene
- Liver(4.4)
- Lung(4.3)
- Nervous system(2.5)
- Muscle(2.4)
- Heart(2.3)
Primer Products
-
OriGene qPCR primer pairs for FERMT2
-
OriGene qPCR primer pairs and template standards for FERMT2
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 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FERMT2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FERMT2 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FERMT2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FERMT2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fermt2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fermt2 34 |
|
||
| chicken (Gallus gallus) |
Aves | FERMT2 35 |
|
OneToOne | |
| PLEKHC1 34 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | FERMT2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fermt2 34 |
|
||
| Str.10934 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3392 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fermt2 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Fit1 34 35 |
|
||
| Fit2 35 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002054 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | unc-112 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for FERMT2 Gene
(3) SIMAP similar genes for FERMT2 Gene using alignment to 7 proteins:
Variants for FERMT2 Gene
| SNP ID | Clin | Chr 14 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000027489 | -- | 52,952,328(+) | AAAGA(G/T)AAAAG | upstream-variant-2KB | |
| rs1000050095 | -- | 52,895,003(+) | AAGTC(C/T)TGTAT | intron-variant | |
| rs1000133968 | -- | 52,858,096(+) | CTTAA(A/G)TCAGT | intron-variant, utr-variant-3-prime | |
| rs1000148769 | -- | 52,949,809(+) | ACGCT(C/T)GAAAC | intron-variant | |
| rs1000184276 | -- | 52,949,482(+) | GCCAC(A/G)CAGAT | intron-variant |
| 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 |
Relevant External Links for FERMT2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FERMT2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FERMT2 Gene
Disorders for FERMT2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukocyte adhesion deficiency, type iii |
|
|
Relevant External Links for FERMT2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FERMT2
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 Y.Q. … Plow E.F. (J. Cell Biol. 2008) 3 4 22 64
- 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 64
- 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 22 64
- 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 64
- Kindlin 2 forms a transcriptional complex with beta-catenin and TCF4 to enhance Wnt signalling. (PMID: 22699938) Yu Y. … Zhang H. (EMBO Rep. 2012) 3 4 64
Products for FERMT2 Gene
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- GeneTex FERMT2 antibody for FERMT2
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- ViGene Biosciences adenoviral particle packaged cDNA for FERMT2 gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FERMT2 Gene
- (1) GeneCards
- (2) HGNC
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