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

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, Oct 2024]
Expression: Ubiquitous expression in fat (RPKM 84.8), endometrium (RPKM 56.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fermitin family member 2 promotes melanoma progression by enhancing the binding of p-alpha-Pix to Rac1 to activate the MAPK pathway.
Title: Fermitin family member 2 promotes melanoma progression by enhancing the binding of p-α-Pix to Rac1 to activate the MAPK pathway.
FERMT2 upregulation in CAFs enhances EMT of OSCC and M2 macrophage polarization.
Title: FERMT2 upregulation in CAFs enhances EMT of OSCC and M2 macrophage polarization.
Kindlin-2 regulates colonic cancer stem-like cells survival and self-renewal via Wnt/beta-catenin mediated pathway.
Title: Kindlin-2 regulates colonic cancer stem-like cells survival and self-renewal via Wnt/β-catenin mediated pathway.
Kindlin-2 controls angiogenesis through modulating Notch1 signaling.
Title: Kindlin-2 controls angiogenesis through modulating Notch1 signaling.
Parkin ubiquitination of Kindlin-2 enables mitochondria-associated metastasis suppression.
Title: Parkin ubiquitination of Kindlin-2 enables mitochondria-associated metastasis suppression.
Alzheimer's risk factor FERMT2 promotes the progression of colorectal carcinoma via Wnt/beta-catenin signaling pathway and contributes to the negative correlation between Alzheimer and cancer.
Title: Alzheimer's risk factor FERMT2 promotes the progression of colorectal carcinoma via Wnt/β-catenin signaling pathway and contributes to the negative correlation between Alzheimer and cancer.
Kindlin-2 promotes Src-mediated tyrosine phosphorylation of androgen receptor and contributes to breast cancer progression.
Title: Kindlin-2 promotes Src-mediated tyrosine phosphorylation of androgen receptor and contributes to breast cancer progression.
Kindlin-2 Promotes Chondrogenesis and Ameliorates IL-1beta-Induced Inflammation in Chondrocytes Cocultured with BMSCs in the Direct Contact Coculture System.
Title: Kindlin-2 Promotes Chondrogenesis and Ameliorates IL-1beta-Induced Inflammation in Chondrocytes Cocultured with BMSCs in the Direct Contact Coculture System.
YBX1 knockdown induces renal cell carcinoma cell apoptosis via Kindlin-2.
Title: YBX1 knockdown induces renal cell carcinoma cell apoptosis via Kindlin-2.
Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner.
Title: Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner.

Submit: New GeneRIF Correction See all GeneRIFs (70)

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S589 (e-PCR), detects polymorphism
- UniSTS:17921

RH15723 (e-PCR)
- UniSTS:53032

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

Plekhc1 (e-PCR), detects polymorphism
- UniSTS:498247

RH47352 (e-PCR)
- UniSTS:54880

D1S1431 (e-PCR)
- UniSTS:149627

G36139 (e-PCR)
- UniSTS:39302

G35911 (e-PCR)
- UniSTS:37313

MIG2_(5) (e-PCR)
- UniSTS:278768

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 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 GTPase activity	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 myosin light chain kinase activity	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 more info	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

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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)

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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.

mRNA and Protein(s)

NM_001134999.2 → NP_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:241 → 324

B41; Band 4.1 homologues

cd01237
Location:373 → 497

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:574 → 665

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

cd17181
Location:17 → 96

FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)

cd17184
Location:97 → 277

FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)

pfam00373
Location:504 → 580

FERM_M; FERM central domain
NM_001135000.2 → NP_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:241 → 324

B41; Band 4.1 homologues

cd01237
Location:373 → 497

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

pfam00373
Location:509 → 580

FERM_M; FERM central domain

cl17171
Location:574 → 631

PH-like; Pleckstrin homology-like domain
NM_006832.3 → NP_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:241 → 324

B41; Band 4.1 homologues

cd01237
Location:373 → 497

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:567 → 658

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

cd17181
Location:17 → 96

FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)

cd17184
Location:97 → 277

FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)

pfam00373
Location:504 → 573

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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

52857273..52951050 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720010.4 → XP_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:373 → 497

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:582 → 673

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

pfam00169
Location:381 → 476

PH; PH domain

pfam00373
Location:509 → 588

FERM_M; FERM central domain

cl09511
Location:283 → 326

FERM_B-lobe; FERM domain B-lobe
XM_005267285.4 → XP_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:252 → 335

B41; Band 4.1 homologues

cd01237
Location:384 → 508

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:578 → 669

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

cd17181
Location:17 → 96

FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)

cd17184
Location:97 → 288

FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)

pfam00373
Location:533 → 584

FERM_M; FERM central domain
XM_006720009.4 → XP_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:252 → 335

B41; Band 4.1 homologues

cd01237
Location:384 → 508

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:585 → 676

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

cd17181
Location:17 → 96

FERM_F0_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in kindlin-2 (KIND2)

cd17184
Location:97 → 288

FERM_F1_KIND2; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in kindlin-2 (KIND2)

pfam00373
Location:521 → 591

FERM_M; FERM central domain
XM_006720008.4 → XP_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:384 → 508

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:593 → 684

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

pfam00169
Location:392 → 487

PH; PH domain

pfam00373
Location:520 → 599

FERM_M; FERM central domain

cl09511
Location:294 → 337

FERM_B-lobe; FERM domain B-lobe