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FERMT2 fermitin family member 2 [ Homo sapiens (human) ]

Gene ID: 10979, updated on 18-Jun-2019

Summary

Official Symbol
FERMT2provided by HGNC
Official Full Name
fermitin family member 2provided by HGNC
Primary source
HGNC:HGNC:15767
See related
Ensembl:ENSG00000073712 MIM:607746
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
Expression
Ubiquitous expression in fat (RPKM 84.8), endometrium (RPKM 56.1) and 22 other tissues See more
Orthologs

Genomic context

See FERMT2 in Genome Data Viewer
Location:
14q22.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (52857271..52951097, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (53323989..53417856, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370500 Neighboring gene COP9 signalosome subunit 9 pseudogene Neighboring gene glucosamine-phosphate N-acetyltransferase 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 3 Neighboring gene DDHD domain containing 1

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34213, FLJ44462, DKFZp686G11125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell junction assembly TAS
Traceable Author Statement
more info
 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
integrin activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
substrate adhesion-dependent cell spreading ISS
Inferred from Sequence or Structural Similarity
more info
 
transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
I band IEA
Inferred from Electronic Annotation
more info
 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
kindlin 2
mitogen inducible gene 2 protein
pleckstrin homology domain containing, family C (with FERM domain) member 1
pleckstrin homology domain containing, family C member 1

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.

mRNA and Protein(s)

  1. NM_001134999.1NP_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/Swiss-Prot
    Q96AC1
    Related
    ENSP00000342858.4, ENST00000343279.8
    Conserved Domains (4) summary
    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
    pfam00373
    Location:509580
    FERM_M; FERM central domain
    cl09511
    Location:241324
    FERM_B-lobe; FERM domain B-lobe
  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/Swiss-Prot
    Q96AC1
    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
    Q96AC1
    UniProtKB/TrEMBL
    A0A024R687
    Related
    ENSP00000340391.3, ENST00000341590.8
    Conserved Domains (4) summary
    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
    pfam00373
    Location:509573
    FERM_M; FERM central domain
    cl09511
    Location:241324
    FERM_B-lobe; FERM domain B-lobe

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_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    52857271..52951097 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267285.3XP_005267342.1  fermitin family homolog 2 isoform X4

    See identical proteins and their annotated locations for XP_005267342.1

    Conserved Domains (4) summary
    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
    pfam00169
    Location:392487
    PH; PH domain
    pfam00373
    Location:520584
    FERM_M; FERM central domain
  2. XM_006720009.3XP_006720072.1  fermitin family homolog 2 isoform X2

    See identical proteins and their annotated locations for XP_006720072.1

    Related
    ENSP00000450741.1, ENST00000554152.5
    Conserved Domains (5) summary
    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
    pfam00169
    Location:392487
    PH; PH domain
    pfam00373
    Location:520591
    FERM_M; FERM central domain
    cl09511
    Location:294337
    FERM_B-lobe; FERM domain B-lobe
  3. XM_006720008.3XP_006720071.1  fermitin family homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_006720071.1

    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
  4. XM_006720010.3XP_006720073.1  fermitin family homolog 2 isoform X3

    See identical proteins and their annotated locations for XP_006720073.1

    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
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