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    FERMT2 FERM domain containing kindlin 2 [ Homo sapiens (human) ]

    Gene ID: 10979, updated on 3-Dec-2024

    Summary

    Official Symbol
    FERMT2provided by HGNC
    Official Full Name
    FERM domain containing kindlin 2provided by HGNC
    Primary source
    HGNC:HGNC:15767
    See related
    Ensembl:ENSG00000073712 MIM:607746; AllianceGenome:HGNC:15767
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIG2; KIND2; mig-2; UNC112; PLEKHC1; UNC112B
    Summary
    Enables several functions, including actin binding activity; phosphatidylinositol-3,4,5-trisphosphate binding activity; and type I transforming growth factor beta receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cellular component biogenesis; and positive regulation of intracellular signal transduction. Acts upstream of or within cell adhesion and protein localization to cell junction. Located in several cellular components, including adherens junction; cytoplasmic side of plasma membrane; and focal adhesion. Biomarker of acute myeloid leukemia. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 84.8), endometrium (RPKM 56.1) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FERMT2 in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (52857273..52951050, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (47065165..47158990, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (53323991..53417768, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8397 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:53257919-53258432 and GRCh37_chr14:53258433-53258947 Neighboring gene uncharacterized LOC105370500 Neighboring gene COP9 signalosome subunit 9 pseudogene Neighboring gene glucosamine-phosphate N-acetyltransferase 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53301633-53302238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53302239-53302843 Neighboring gene Sharpr-MPRA regulatory region 8176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53350617-53351142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53351143-53351668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8398 Neighboring gene Sharpr-MPRA regulatory region 10339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5751 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:53418467-53419045 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 3 Neighboring gene DDHD domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5752

    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

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34213, FLJ44462, DKFZp686G11125

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein serine/threonine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adherens junction maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell adhesion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in focal adhesion assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 limb development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of vascular permeability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of integrin activation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of mesenchymal stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of wound healing, spreading of epidermal cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in substrate adhesion-dependent cell spreading ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in I band IEA
    Inferred from Electronic Annotation
    more info
     
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion HDA PubMed 
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lamellipodium membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    fermitin family homolog 2
    Names
    PH domain-containing family C member 1
    fermitin family member 2
    kindlin 2
    mitogen inducible gene 2 protein
    mitogen inducible gene-2
    pleckstrin homology domain containing, family C (with FERM domain) member 1
    pleckstrin homology domain containing, family C member 1

    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.

    mRNA and Protein(s)

    1. NM_001134999.2NP_001128471.1  fermitin family homolog 2 isoform 2

      See identical proteins and their annotated locations for NP_001128471.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to variant 1, resulting in a longer isoform (2) with an internal 7 aa segment missing in isoform 1.
      Source sequence(s)
      AL139317, BC011125, BC017327, BX161467
      Consensus CDS
      CCDS45107.1
      UniProtKB/TrEMBL
      A8K6S3
      Related
      ENSP00000342858.4, ENST00000343279.8
      Conserved Domains (6) summary
      smart00295
      Location:241324
      B41; Band 4.1 homologues
      cd01237
      Location:373497
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:574665
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      cd17181
      Location:1796
      FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
      cd17184
      Location:97277
      FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
      pfam00373
      Location:504580
      FERM_M; FERM central domain
    2. NM_001135000.2NP_001128472.1  fermitin family homolog 2 isoform 3

      See identical proteins and their annotated locations for NP_001128472.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an additional in-frame coding exon and is missing the 3' terminal exon compared to variant 1. This results in a shorter isoform (3) with a distinct C-terminus and an internal 7 aa segment missing in isoform 1.
      Source sequence(s)
      AL139317, BC017327, BX161467
      Consensus CDS
      CCDS45108.1
      UniProtKB/TrEMBL
      A8K6S3
      Related
      ENSP00000382243.3, ENST00000399304.7
      Conserved Domains (4) summary
      smart00295
      Location:241324
      B41; Band 4.1 homologues
      cd01237
      Location:373497
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      pfam00373
      Location:509580
      FERM_M; FERM central domain
      cl17171
      Location:574631
      PH-like; Pleckstrin homology-like domain
    3. NM_006832.3NP_006823.1  fermitin family homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_006823.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      AL139317, BC011125, BC017327, BX161467
      Consensus CDS
      CCDS9713.1
      UniProtKB/Swiss-Prot
      B5TJY2, Q14840, Q86TY7, Q96AC1
      UniProtKB/TrEMBL
      A8K6S3
      Related
      ENSP00000340391.3, ENST00000341590.8
      Conserved Domains (6) summary
      smart00295
      Location:241324
      B41; Band 4.1 homologues
      cd01237
      Location:373497
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:567658
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      cd17181
      Location:1796
      FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
      cd17184
      Location:97277
      FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
      pfam00373
      Location:504573
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      52857273..52951050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720010.4XP_006720073.1  fermitin family homolog 2 isoform X3

      See identical proteins and their annotated locations for XP_006720073.1

      UniProtKB/TrEMBL
      A8K6S3
      Conserved Domains (5) summary
      cd01237
      Location:373497
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:582673
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      pfam00169
      Location:381476
      PH; PH domain
      pfam00373
      Location:509588
      FERM_M; FERM central domain
      cl09511
      Location:283326
      FERM_B-lobe; FERM domain B-lobe
    2. XM_005267285.4XP_005267342.1  fermitin family homolog 2 isoform X4

      See identical proteins and their annotated locations for XP_005267342.1

      UniProtKB/TrEMBL
      A8K6S3
      Conserved Domains (6) summary
      smart00295
      Location:252335
      B41; Band 4.1 homologues
      cd01237
      Location:384508
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:578669
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      cd17181
      Location:1796
      FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
      cd17184
      Location:97288
      FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
      pfam00373
      Location:533584
      FERM_M; FERM central domain
    3. XM_006720009.4XP_006720072.1  fermitin family homolog 2 isoform X2

      See identical proteins and their annotated locations for XP_006720072.1

      UniProtKB/TrEMBL
      A8K6S3
      Related
      ENSP00000450741.1, ENST00000554152.5
      Conserved Domains (6) summary
      smart00295
      Location:252335
      B41; Band 4.1 homologues
      cd01237
      Location:384508
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:585676
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      cd17181
      Location:1796
      FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)
      cd17184
      Location:97288
      FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)
      pfam00373
      Location:521591
      FERM_M; FERM central domain
    4. XM_006720008.4XP_006720071.1  fermitin family homolog 2 isoform X1

      See identical proteins and their annotated locations for XP_006720071.1

      UniProtKB/TrEMBL
      A8K6S3
      Conserved Domains (5) summary
      cd01237
      Location:384508
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:593684
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      pfam00169
      Location:392487
      PH; PH domain
      pfam00373
      Location:520599
      FERM_M; FERM central domain
      cl09511
      Location:294337
      FERM_B-lobe; FERM domain B-lobe

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      47065165..47158990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375284.1XP_054231259.1  fermitin family homolog 2 isoform X3

      UniProtKB/TrEMBL
      A8K6S3
    2. XM_054375285.1XP_054231260.1  fermitin family homolog 2 isoform X4

      UniProtKB/TrEMBL
      A8K6S3
    3. XM_054375283.1XP_054231258.1  fermitin family homolog 2 isoform X2

      UniProtKB/TrEMBL
      A8K6S3
    4. XM_054375282.1XP_054231257.1  fermitin family homolog 2 isoform X1

      UniProtKB/TrEMBL
      A8K6S3