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Aliases for FERMT3 Gene

Aliases for FERMT3 Gene

  • Fermitin Family Member 3 2 3
  • Unc-112-Related Protein 2 3 4
  • MIG2-Like Protein 3 4
  • Kindlin-3 2 4
  • KIND3 3 4
  • MIG2B 3 4
  • URP2 3 4
  • Fermitin Family Homolog 3 (Drosophila) 2
  • UNC-112 Related Protein 2 3
  • Kindlin 3 3
  • UNC112C 3
  • URP2SF 3
  • Mig-2 3

External Ids for FERMT3 Gene

Previous GeneCards Identifiers for FERMT3 Gene

  • GC11P063731
  • GC11P063975
  • GC11P060302

Summaries for FERMT3 Gene

Entrez Gene Summary for FERMT3 Gene

  • Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]

GeneCards Summary for FERMT3 Gene

FERMT3 (Fermitin Family Member 3) is a Protein Coding gene. Diseases associated with FERMT3 include leukocyte adhesion deficiency, type iii and leukocyte adhesion deficiency. Among its related pathways are Platelet activation and Adhesion. GO annotations related to this gene include integrin binding. An important paralog of this gene is FERMT2.

UniProtKB/Swiss-Prot for FERMT3 Gene

  • Plays a central role in cell adhesion in hematopoietic cells. Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells. Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).

  • Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.

Gene Wiki entry for FERMT3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FERMT3 Gene

Genomics for FERMT3 Gene

Regulatory Elements for FERMT3 Gene

Genomic Location for FERMT3 Gene

Chromosome:
11
Start:
64,206,655 bp from pter
End:
64,223,891 bp from pter
Size:
17,237 bases
Orientation:
Plus strand

Genomic View for FERMT3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FERMT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FERMT3 Gene

Proteins for FERMT3 Gene

  • Protein details for FERMT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UX7-URP2_HUMAN
    Recommended name:
    Fermitin family homolog 3
    Protein Accession:
    Q86UX7
    Secondary Accessions:
    • Q8IUA1
    • Q8N207
    • Q9BT48

    Protein attributes for FERMT3 Gene

    Size:
    667 amino acids
    Molecular mass:
    75953 Da
    Quaternary structure:
    • Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails).

    Three dimensional structures from OCA and Proteopedia for FERMT3 Gene

    Alternative splice isoforms for FERMT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FERMT3 Gene

Proteomics data for FERMT3 Gene at MOPED

Post-translational modifications for FERMT3 Gene

  • Ubiquitination at Lys 353 and Lys 590
  • Modification sites at PhosphoSitePlus

Other Protein References for FERMT3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FERMT3 (kindlin-3)

No data available for DME Specific Peptides for FERMT3 Gene

Domains & Families for FERMT3 Gene

Protein Domains for FERMT3 Gene

Suggested Antigen Peptide Sequences for FERMT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86UX7

UniProtKB/Swiss-Prot:

URP2_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
  • Contains 1 FERM domain.
  • Contains 1 PH domain.
Family:
  • Belongs to the kindlin family.
genes like me logo Genes that share domains with FERMT3: view

Function for FERMT3 Gene

Molecular function for FERMT3 Gene

UniProtKB/Swiss-Prot Function:
Plays a central role in cell adhesion in hematopoietic cells. Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells. Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.

Gene Ontology (GO) - Molecular Function for FERMT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding ISS --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with FERMT3: view
genes like me logo Genes that share phenotypes with FERMT3: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FERMT3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FERMT3 Gene

Localization for FERMT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FERMT3 Gene

Cell projection, podosome. Note=Present in the F-actin surrounding ring structure of podosomes, which are specialized adhesion structures of hematopoietic cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FERMT3 Gene COMPARTMENTS Subcellular localization image for FERMT3 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for FERMT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome ISS --
GO:0016020 membrane IDA 19946888
GO:0030054 cell junction IEA --
GO:0042995 cell projection IEA --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with FERMT3: view

Pathways & Interactions for FERMT3 Gene

SuperPathways for FERMT3 Gene

Superpath Contained pathways
1 Platelet activation
2 Adhesion
genes like me logo Genes that share pathways with FERMT3: view

Pathways by source for FERMT3 Gene

1 Cell Signaling Technology pathway for FERMT3 Gene
1 KEGG pathway for FERMT3 Gene

Gene Ontology (GO) - Biological Process for FERMT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007159 leukocyte cell-cell adhesion IMP 19234460
GO:0007229 integrin-mediated signaling pathway IMP 19234460
GO:0030335 positive regulation of cell migration IDA 19234463
GO:0033622 integrin activation IMP 19234460
GO:0033632 regulation of cell-cell adhesion mediated by integrin IDA 19234463
genes like me logo Genes that share ontologies with FERMT3: view

No data available for SIGNOR curated interactions for FERMT3 Gene

Drugs & Compounds for FERMT3 Gene

No Compound Related Data Available

Transcripts for FERMT3 Gene

Unigene Clusters for FERMT3 Gene

Fermitin family member 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FERMT3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FERMT3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for FERMT3 Gene

GeneLoc Exon Structure for
FERMT3
ECgene alternative splicing isoforms for
FERMT3

Expression for FERMT3 Gene

mRNA expression in normal human tissues for FERMT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FERMT3 Gene

This gene is overexpressed in Whole Blood (x24.0) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for FERMT3 Gene

This gene is overexpressed in Platelet (29.6), Peripheral blood mononuclear cells (13.1), and Lymph node (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FERMT3 Gene



SOURCE GeneReport for Unigene cluster for FERMT3 Gene Hs.180535

mRNA Expression by UniProt/SwissProt for FERMT3 Gene

Q86UX7-URP2_HUMAN
Tissue specificity: Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies.
genes like me logo Genes that share expression patterns with FERMT3: view

Protein tissue co-expression partners for FERMT3 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for FERMT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FERMT3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia FERMT3 35
  • 90.55 (n)
  • 95.92 (a)
FERMT3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fermt3 35
  • 86.63 (n)
  • 93.67 (a)
Fermt3 16
Fermt3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FERMT3 35
  • 99.2 (n)
  • 99.55 (a)
FERMT3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fermt3 35
  • 86.02 (n)
  • 93.36 (a)
cow
(Bos Taurus)
Mammalia FERMT3 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 53 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FERMT3 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FERMT3 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC69069 35
zebrafish
(Danio rerio)
Actinopterygii fermt3b 35
  • 64.74 (n)
  • 64.48 (a)
zgc64101 35
FERMT3 (2 of 2) 36
  • 60 (a)
OneToMany
fermt3b 36
  • 63 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9754 35
fruit fly
(Drosophila melanogaster)
Insecta Fit1 36
  • 39 (a)
ManyToMany
Fit2 36
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-112 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for FERMT3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FERMT3 Gene

ENSEMBL:
Gene Tree for FERMT3 (if available)
TreeFam:
Gene Tree for FERMT3 (if available)

Paralogs for FERMT3 Gene

Paralogs for FERMT3 Gene

(3) SIMAP similar genes for FERMT3 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for FERMT3 Gene

genes like me logo Genes that share paralogs with FERMT3: view

Variants for FERMT3 Gene

Sequence variations from dbSNP and Humsavar for FERMT3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs882146 -- 64,209,227(-) GGTCT(C/T)GGCTT intron-variant, upstream-variant-2KB
rs882147 -- 64,209,217(-) TTTGG(A/T)GCTCA intron-variant, upstream-variant-2KB
rs1011219 -- 64,205,924(-) GACAG(C/T)GGCCT upstream-variant-2KB
rs1544538 -- 64,220,868(-) CACTG(C/T)GCCAG intron-variant
rs2508208 -- 64,208,871(-) CAGAA(A/G)AAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FERMT3 Gene

Variant ID Type Subtype PubMed ID
dgv1156n71 CNV Loss 21882294
nsv469961 CNV Loss 18288195
dgv1163n71 CNV Loss 21882294
dgv1164n71 CNV Loss 21882294
dgv1165n71 CNV Loss 21882294
dgv1166n71 CNV Loss 21882294
nsv832186 CNV Loss 17160897
esv33774 CNV Gain 17666407

Variation tolerance for FERMT3 Gene

Residual Variation Intolerance Score: 93.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FERMT3 Gene

HapMap Linkage Disequilibrium report
FERMT3
Human Gene Mutation Database (HGMD)
FERMT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FERMT3 Gene

Disorders for FERMT3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FERMT3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukocyte adhesion deficiency, type iii
  • lad3, leukocyte adhesion deficiency 3
leukocyte adhesion deficiency
  • leukocyte-adhesion deficiency syndrome
kindler syndrome
  • bullous acrokeratotic poikiloderma of kindler and weary
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
- elite association

UniProtKB/Swiss-Prot

URP2_HUMAN
  • Leukocyte adhesion deficiency 3 (LAD3) [MIM:612840]: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. {ECO:0000269 PubMed:18779414, ECO:0000269 PubMed:19064721, ECO:0000269 PubMed:19234460, ECO:0000269 PubMed:19234463, ECO:0000269 PubMed:19617577}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FERMT3

Genetic Association Database (GAD)
FERMT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FERMT3
genes like me logo Genes that share disorders with FERMT3: view

No data available for Genatlas for FERMT3 Gene

Publications for FERMT3 Gene

  1. The role of kindlins in cell biology and relevance to human disease. (PMID: 19854292) Lai-Cheong J.E. … McGrath J.A. (Int. J. Biochem. Cell Biol. 2010) 23 67
  2. Leukocyte adhesion deficiency-III in an African-American patient. (PMID: 20213844) Sabnis H. … Briones M. (Pediatr Blood Cancer 2010) 23 67
  3. Kindlins in FERM adhesion. (PMID: 20228270) Malinin N.L. … Byzova T.V. (Blood 2010) 23 67
  4. The integrin co-activator Kindlin-3 is expressed and functional in a non-hematopoietic cell, the endothelial cell. (PMID: 20378539) Bialkowska K. … Plow E.F. (J. Biol. Chem. 2010) 23 67
  5. Kindling the flame of integrin activation and function with kindlins. (PMID: 19553810) Plow E.F. … Byzova T. (Curr. Opin. Hematol. 2009) 23 67

Products for FERMT3 Gene

Sources for FERMT3 Gene

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