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FERMT3 FERM domain containing kindlin 3 [ Homo sapiens (human) ]

Gene ID: 83706, updated on 5-Mar-2024

Summary

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Official Symbol
FERMT3provided by HGNC
Official Full Name
FERM domain containing kindlin 3provided by HGNC
Primary source
HGNC:HGNC:23151
See related
Ensembl:ENSG00000149781 MIM:607901; AllianceGenome:HGNC:23151
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
mouse all
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Genomic context

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Location:
11q13.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64205920..64223891)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64195866..64213837)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63973392..63991363)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3460 Neighboring gene uncharacterized LOC105369339 Neighboring gene MPRA-validated peak1294 silencer Neighboring gene uncharacterized LOC124902686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63948751-63949252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63949253-63949752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63951637-63952142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3462 Neighboring gene stress induced phosphoprotein 1 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:63972802-63973364 and GRCh37_chr11:63973365-63973927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63992564-63993286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63993887-63994406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63994407-63994924 Neighboring gene uncharacterized LOC124902687 Neighboring gene tRNA phosphotransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3465 Neighboring gene nudix hydrolase 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3466 Neighboring gene DnaJ heat shock protein family (Hsp40) member C4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Kindlin-3 deficiency leads to impaired erythropoiesis and erythrocyte cytoskeleton. Szpak D, et al. Blood Adv, 2023 May 9. PMID 36649586, Free PMC Article
  2. A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family. Köker N, et al. J Clin Immunol, 2023 May. PMID 36648575
  3. FERMT3 mediates cigarette smoke-induced epithelial-mesenchymal transition through Wnt/β-catenin signaling. Su X, et al. Respir Res, 2021 Nov 6. PMID 34742298, Free PMC Article
  4. Structural basis of human full-length kindlin-3 homotrimer in an auto-inhibited state. Bu W, et al. PLoS Biol, 2020 Jul. PMID 32644996, Free PMC Article
  5. Macrophage Migration and Phagocytosis Are Controlled by Kindlin-3's Link to the Cytoskeleton. Liu H, et al. J Immunol, 2020 Apr 1. PMID 32094207, Free PMC Article

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers Associated with Sepsis.
    Title: Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers Associated with Sepsis.
  2. Kindlin-3 deficiency leads to impaired erythropoiesis and erythrocyte cytoskeleton.
    Title: Kindlin-3 deficiency leads to impaired erythropoiesis and erythrocyte cytoskeleton.
  3. A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family.
    Title: A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family.
  4. Blockage of PD-L1 by FERMT3-mediated Wnt/beta-catenin signalling regulates chemoresistance and immune evasion of colorectal cancer cells.
    Title: Blockage of PD-L1 by FERMT3-mediated Wnt/β-catenin signalling regulates chemoresistance and immune evasion of colorectal cancer cells.
  5. FERMT3 mediates cigarette smoke-induced epithelial-mesenchymal transition through Wnt/beta-catenin signaling.
    Title: FERMT3 mediates cigarette smoke-induced epithelial-mesenchymal transition through Wnt/β-catenin signaling.
  6. Kindlin-3 and RASSF6 are probable biomarkers for predicting metastasis in cutaneous melanoma.
    Title: Kindlin-3 and RASSF6 are probable biomarkers for predicting metastasis in cutaneous melanoma.
  7. Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis.
    Title: Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis.
  8. Kindlin3 regulates biophysical properties and mechanics of membrane to cortex attachment.
    Title: Kindlin3 regulates biophysical properties and mechanics of membrane to cortex attachment.
  9. Kindlin-3 recruitment to the plasma membrane precedes high-affinity beta2-integrin and neutrophil arrest from rolling.
    Title: Kindlin-3 recruitment to the plasma membrane precedes high-affinity β2-integrin and neutrophil arrest from rolling.
  10. Proteomics Profiling Reveals Insulin-Like Growth Factor 1, Collagen Type VI alpha-2 Chain, and Fermitin Family Homolog 3 as Potential Biomarkers of Plaque Erosion in ST-Segment Elevated Myocardial Infarction.
    Title: Proteomics Profiling Reveals Insulin-Like Growth Factor 1, Collagen Type VI α-2 Chain, and Fermitin Family Homolog 3 as Potential Biomarkers of Plaque Erosion in ST-Segment Elevated Myocardial Infarction.
Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Leukocyte adhesion deficiency 3
MedGen: C2748536 OMIM: 612840 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study of the child behavior checklist dysregulation profile.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC10966

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001382361.1 → NP_001369290.1  fermitin family homolog 3 short isoform

    Status: REVIEWED

    Source sequence(s)
    AP005668
    Consensus CDS
    CCDS8059.1
    UniProtKB/TrEMBL
    A0A8V8TME2
    Related
    ENSP00000445778.2, ENST00000544997.6
    Conserved Domains (6) summary
    smart00295
    Location:218 → 315
    B41; Band 4.1 homologues
    cd01237
    Location:350 → 474
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:548 → 639
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17182
    Location:15 → 97
    FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
    cd17185
    Location:98 → 254
    FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
    pfam00373
    Location:463 → 553
    FERM_M; FERM central domain

  2. NM_001382362.1 → NP_001369291.1  fermitin family homolog 3 long isoform

    Status: REVIEWED

    Source sequence(s)
    AP005668
    Consensus CDS
    CCDS8060.1
    UniProtKB/Swiss-Prot
    Q86UX7, Q8IUA1, Q8N207, Q9BT48
    UniProtKB/TrEMBL
    A0A8V8TME2
    Related
    ENSP00000513988.1, ENST00000698860.1
    Conserved Domains (6) summary
    smart00295
    Location:218 → 315
    B41; Band 4.1 homologues
    cd01237
    Location:350 → 478
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:552 → 643
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17182
    Location:15 → 97
    FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
    cd17185
    Location:98 → 254
    FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
    pfam00373
    Location:467 → 557
    FERM_M; FERM central domain

  3. NM_001382363.1 → NP_001369292.1  fermitin family homolog 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP005668
    Consensus CDS
    CCDS91497.1
    UniProtKB/TrEMBL
    F5H3I6
    Related
    ENSP00000438885.2, ENST00000541252.2
    Conserved Domains (5) summary
    smart00295
    Location:38 → 135
    B41; Band 4.1 homologues
    cd01237
    Location:170 → 294
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:368 → 459
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:283 → 373
    FERM_M; FERM central domain
    cl28922
    Location:35 → 74
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

  4. NM_001382364.1 → NP_001369293.1  fermitin family homolog 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP005668
    Conserved Domains (5) summary
    smart00295
    Location:38 → 135
    B41; Band 4.1 homologues
    cd01237
    Location:170 → 298
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:372 → 463
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    pfam00373
    Location:287 → 377
    FERM_M; FERM central domain
    cl28922
    Location:35 → 74
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

  5. NM_001382448.1 → NP_001369377.1  fermitin family homolog 3 short isoform

    Status: REVIEWED

    Source sequence(s)
    AP005668
    Consensus CDS
    CCDS8059.1
    UniProtKB/TrEMBL
    A0A8V8TME2
    Conserved Domains (6) summary
    smart00295
    Location:218 → 315
    B41; Band 4.1 homologues
    cd01237
    Location:350 → 474
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:548 → 639
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17182
    Location:15 → 97
    FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
    cd17185
    Location:98 → 254
    FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
    pfam00373
    Location:463 → 553
    FERM_M; FERM central domain

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

    See identical proteins and their annotated locations for NP_113659.3

    Status: REVIEWED

    Source sequence(s)
    AL560215, BC015584, BG491422
    Consensus CDS
    CCDS8059.1
    UniProtKB/TrEMBL
    A0A8V8TME2
    Related
    ENSP00000339950.5, ENST00000345728.10
    Conserved Domains (6) summary
    smart00295
    Location:218 → 315
    B41; Band 4.1 homologues
    cd01237
    Location:350 → 474
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:548 → 639
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17182
    Location:15 → 97
    FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
    cd17185
    Location:98 → 254
    FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
    pfam00373
    Location:463 → 553
    FERM_M; FERM central domain

  7. NM_178443.3 → NP_848537.1  fermitin family homolog 3 long isoform

    See identical proteins and their annotated locations for NP_848537.1

    Status: REVIEWED

    Source sequence(s)
    AP005668
    Consensus CDS
    CCDS8060.1
    UniProtKB/Swiss-Prot
    Q86UX7, Q8IUA1, Q8N207, Q9BT48
    UniProtKB/TrEMBL
    A0A8V8TME2
    Related
    ENSP00000279227.5, ENST00000279227.10
    Conserved Domains (6) summary
    smart00295
    Location:218 → 315
    B41; Band 4.1 homologues
    cd01237
    Location:350 → 478
    PH_fermitin; Fermitin family pleckstrin homology (PH) domain
    cd13205
    Location:552 → 643
    FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
    cd17182
    Location:15 → 97
    FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
    cd17185
    Location:98 → 254
    FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
    pfam00373
    Location:467 → 557
    FERM_M; FERM central domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64205920..64223891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427676.1 → XP_047283632.1  fermitin family homolog 3 isoform X1

    Related
    ENST00000698875.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64195866..64213837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370132.1 → XP_054226107.1  fermitin family homolog 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86UX7.1 GenPept UniProtKB/Swiss-Prot:Q86UX7

Gene LinkOut

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