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FERMT3 fermitin family member 3 [ Homo sapiens (human) ]

Gene ID: 83706, updated on 17-Jun-2019

Summary

Official Symbol
FERMT3provided by HGNC
Official Full Name
fermitin family member 3provided by HGNC
Primary source
HGNC:HGNC:23151
See related
Ensembl:ENSG00000149781 MIM:607901
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
URP2; KIND3; MIG-2; MIG2B; URP2SF; UNC112C
Summary
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]
Expression
Broad expression in bone marrow (RPKM 48.7), spleen (RPKM 38.0) and 15 other tissues See more
Orthologs

Genomic context

See FERMT3 in Genome Data Viewer
Location:
11q13.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64206662..64223891)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63974152..63991363)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mono-ADP ribosylhydrolase 1 Neighboring gene uncharacterized LOC105369339 Neighboring gene stress induced phosphoprotein 1 Neighboring gene nudix hydrolase 22 Neighboring gene tRNA phosphotransferase 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member C4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Leukocyte adhesion deficiency, type III
MedGen: C2748536 OMIM: 612840 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study of the child behavior checklist dysregulation profile.
NHGRI GWA Catalog

Pathways from BioSystems

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10966

Gene Ontology Provided by GOA

Function Evidence Code Pubs
integrin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
integrin activation IDA
Inferred from Direct Assay
more info
PubMed 
integrin activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
leukocyte cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet aggregation HMP PubMed 
platelet aggregation ISS
Inferred from Sequence or Structural Similarity
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell-cell adhesion mediated by integrin IDA
Inferred from Direct Assay
more info
PubMed 
substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
podosome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
fermitin family homolog 3
Names
MIG2-like protein
UNC-112 related protein 2
kindlin 3
unc-112-related protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016360.1 RefSeqGene

    Range
    5001..22212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_180

mRNA and Protein(s)

  1. NM_031471.6NP_113659.3  fermitin family homolog 3 short isoform

    See identical proteins and their annotated locations for NP_113659.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (URP2SF) uses an alternate in-frame splice junction at the 5' end of a coding exon compared to variant URP2LF. The resulting isoform (short isoform) has the same N- and C-termini but is shorter compared to the long isoform.
    Source sequence(s)
    AL560215, BC015584, BG491422
    Consensus CDS
    CCDS8059.1
    UniProtKB/Swiss-Prot
    Q86UX7
    Related
    ENSP00000339950.5, ENST00000345728.9
    Conserved Domains (4) summary
    smart00295
    Location:218315
    B41; Band 4.1 homologues
    cd01237
    Location:350474
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:548639
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:462553
    FERM_M; FERM central domain
  2. NM_178443.2NP_848537.1  fermitin family homolog 3 long isoform

    See identical proteins and their annotated locations for NP_848537.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (URP2LF) represents the longer transcript and encodes the longer isoform (long isoform).
    Source sequence(s)
    AL560215, AY093952, BC015584, BG491422
    Consensus CDS
    CCDS8060.1
    UniProtKB/Swiss-Prot
    Q86UX7
    Related
    ENSP00000279227.5, ENST00000279227.9
    Conserved Domains (4) summary
    smart00295
    Location:218315
    B41; Band 4.1 homologues
    cd01237
    Location:350478
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:552643
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:466557
    FERM_M; FERM central domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    64206662..64223891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545294.3XP_011543596.1  fermitin family homolog 3 isoform X1

    See identical proteins and their annotated locations for XP_011543596.1

    UniProtKB/Swiss-Prot
    Q86UX7
    Conserved Domains (4) summary
    smart00295
    Location:218315
    B41; Band 4.1 homologues
    cd01237
    Location:350478
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:552643
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:466557
    FERM_M; FERM central domain
  2. XM_017018398.2XP_016873887.1  fermitin family homolog 3 isoform X2

    UniProtKB/Swiss-Prot
    Q86UX7
    Conserved Domains (4) summary
    smart00295
    Location:218315
    B41; Band 4.1 homologues
    cd01237
    Location:350474
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:548639
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:462553
    FERM_M; FERM central domain
  3. XM_017018399.1XP_016873888.1  fermitin family homolog 3 isoform X4

  4. XM_011545295.2XP_011543597.1  fermitin family homolog 3 isoform X3

    See identical proteins and their annotated locations for XP_011543597.1

    Conserved Domains (5) summary
    smart00295
    Location:38135
    B41; Band 4.1 homologues
    cd01237
    Location:170298
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:372463
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00169
    Location:191277
    PH; PH domain
    pfam00373
    Location:287377
    FERM_M; FERM central domain
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