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

    Gene ID: 83706, updated on 27-Nov-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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    See FERMT3 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64205920..64223891)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64195866..64213837)
    RS_2024_09 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. A novel tumor suppressor function of Kindlin-3 in solid cancer. Djaafri I, et al. Oncotarget, 2014 Oct 15. PMID 25344860, Free PMC Article
    2. FERMT3 contributes to glioblastoma cell proliferation and chemoresistance to temozolomide through integrin mediated Wnt signaling. Lu C, et al. Neurosci Lett, 2017 Sep 14. PMID 28778805
    3. Kindlin‑2 promotes clear cell renal cell carcinoma progression through the Wnt signaling pathway. Li M, et al. Oncol Rep, 2017 Sep. PMID 28677779
    4. Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. Jurk K, et al. Thromb Haemost, 2010 May. PMID 20216991
    5. Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro. McDowall A, et al. Blood, 2010 Jun 10. PMID 20357244

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inactivation of kindlin-3 increases human melanoma aggressiveness through the collagen-activated tyrosine kinase receptor DDR1.
      Title: Inactivation of kindlin-3 increases human melanoma aggressiveness through the collagen-activated tyrosine kinase receptor DDR1.
    2. Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers Associated with Sepsis.
      Title: Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers Associated with Sepsis.
    3. Kindlin-3 deficiency leads to impaired erythropoiesis and erythrocyte cytoskeleton.
      Title: Kindlin-3 deficiency leads to impaired erythropoiesis and erythrocyte cytoskeleton.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis.
      Title: Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis.
    9. Kindlin3 regulates biophysical properties and mechanics of membrane to cortex attachment.
      Title: Kindlin3 regulates biophysical properties and mechanics of membrane to cortex attachment.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (66)

    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
    		Compare labs

    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)

    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 
    enables protein binding IPI
    Inferred from Physical Interaction
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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