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

    Gene ID: 83706, updated on 8-Jul-2021

    Summary

    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
    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
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    Genomic context

    See FERMT3 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64205920..64223891)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63973392..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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of the child behavior checklist dysregulation profile.
    GeneReviews: Not available
    Leukocyte adhesion deficiency, type III
    MedGen: C2748536 OMIM: 612840 GeneReviews: Not available
    Compare labs

    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
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables integrin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
    PubMed 
    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

    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)

    NEW Try the new Transcript table

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

      Status: REVIEWED

      Source sequence(s)
      AP005668
      Conserved Domains (6) 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
      cd17182
      Location:1597
      FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
      cd17185
      Location:98254
      FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
      pfam00373
      Location:463553
      FERM_M; FERM central domain
    2. NM_001382362.1NP_001369291.1  fermitin family homolog 3 long isoform

      Status: REVIEWED

      Source sequence(s)
      AP005668
      Conserved Domains (6) 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
      cd17182
      Location:1597
      FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
      cd17185
      Location:98254
      FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
      pfam00373
      Location:467557
      FERM_M; FERM central domain
    3. NM_001382363.1NP_001369292.1  fermitin family homolog 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP005668
      Conserved Domains (5) summary
      smart00295
      Location:38135
      B41; Band 4.1 homologues
      cd01237
      Location:170294
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:368459
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      pfam00373
      Location:283373
      FERM_M; FERM central domain
      cl28922
      Location:3574
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    4. NM_001382364.1NP_001369293.1  fermitin family homolog 3 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP005668
      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
      pfam00373
      Location:287377
      FERM_M; FERM central domain
      cl28922
      Location:3574
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    5. NM_001382448.1NP_001369377.1  fermitin family homolog 3 short isoform

      Status: REVIEWED

      Source sequence(s)
      AP005668
      Conserved Domains (6) 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
      cd17182
      Location:1597
      FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
      cd17185
      Location:98254
      FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
      pfam00373
      Location:463553
      FERM_M; FERM central domain
    6. NM_031471.6NP_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/Swiss-Prot
      Q86UX7
      Related
      ENSP00000339950.5, ENST00000345728.10
      Conserved Domains (6) 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
      cd17182
      Location:1597
      FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
      cd17185
      Location:98254
      FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
      pfam00373
      Location:463553
      FERM_M; FERM central domain
    7. NM_178443.3NP_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
      Related
      ENSP00000279227.5, ENST00000279227.9
      Conserved Domains (6) 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
      cd17182
      Location:1597
      FERM_F0_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-3 (KIND3)
      cd17185
      Location:98254
      FERM_F1_KIND3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-3 (KIND3)
      pfam00373
      Location:467557
      FERM_M; FERM central domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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