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FERMT1 Gene

protein-coding GIFtS: 57
GCID: GC20M006055

Fermitin Family Member 1

(Previous names: chromosome 20 open reading frame 42, fermitin family homolog...)
(Previous symbol: C20orf42)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Fermitin Family Member 1¹ ²		kindlin-1¹
C20orf42¹ ² ³ ⁵		DTGCU2²
KIND1² ³ ⁵		UNC112A²
URP1² ³ ⁵		Fermitin Family Homolog 1²
Kindlin Syndrome Protein² ³		kindlerin²
Unc-112-Related Protein 1² ³		Kindlin 1²
Chromosome 20 Open Reading Frame 42¹		UNC112 Related Protein 1²
Fermitin Family Homolog 1 (Drosophila)¹		Kindlerin³
kinderlin¹		Kindlin-1³

External Ids:	HGNC: 15889¹	Entrez Gene: 55612²	Ensembl: ENSG00000101311⁷	OMIM: 607900⁵	UniProtKB: Q9BQL6³

Export aliases for FERMT1 gene to outside databases

Previous GC identifer: GC20M006004

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FERMT1 Gene:

This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain.

The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular

matrix. Mutations in this gene have been linked to Kindler syndrome. (provided by RefSeq, Dec 2009)

GeneCards Summary for FERMT1 Gene:

FERMT1 (fermitin family member 1) is a protein-coding gene. Diseases associated with FERMT1 include hereditary acrokeratotic poikiloderma, weary type, and kindler syndrome. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is FERMT2.

UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6

Function: Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates

activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal

keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin

and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor

progression

Gene Wiki entry for FERMT1 (C20orf42) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000020.11 NC_018931.2 NT_011387.9

Regulatory elements:

Regulatory transcription factor binding sites in the FERMT1 gene promoter:
STAT5B STAT1 AML1a STAT4 STAT1beta STAT5A STAT1alpha GATA-1 STAT2 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FERMT1 promoter sequence

Search Chromatin IP Primers for FERMT1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FERMT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.3 Ensembl cytogenetic band: 20p12.3 HGNC cytogenetic band: 20p12.3

FERMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FERMT1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M006055: view genomic region (about GC identifiers)

Start:	6,055,492 bp from pter	End:	6,104,191 bp from pter
Size:	48,700 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6 (See protein sequence)

Recommended Name: Fermitin family homolog 1

Size: 677 amino acids; 77437 Da

Subunit: Interacts with the cytoplasmic domain of integrins ITGB1 and ITGB3

Sequence caution: Sequence=BAA91358.1; Type=Erroneous initiation; Sequence=BAC03826.1; Type=Erroneous initiation;

Secondary accessions: D3DW10 Q8IX34 Q8IYH2 Q9NWM2 Q9NXQ3

Alternative splicing: 4 isoforms: Q9BQL6-1 Q9BQL6-2 Q9BQL6-3 Q9BQL6-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FERMT1: NX_Q9BQL6

Explore proteomics data for FERMT1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See FERMT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_060141.3

ENSEMBL proteins:

ENSP00000217289 ENSP00000368121 ENSP00000441063

FERMT1 Human Recombinant Protein Products:

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	Novus Biologicals FERMT1 Proteins Novus Biologicals FERMT1 Lysates
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	Browse Proteins at Cloud-Clone Corp.

FERMT1 Antibody Products:

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FERMT1 Assay Products:

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	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PLEKH: Pleckstrin homology (PH) domain containing

FERMT: Fermitins

Selected InterPro protein domains (see all 6):

IPR019748 FERM_central

IPR001849 Pleckstrin_homology

IPR011993 PH_like_dom

IPR014352 FERM/acyl-CoA-bd_prot_3-hlx

IPR019749 Band_41_domain

Graphical View of Domain Structure for InterPro Entry Q9BQL6

ProtoNet protein and cluster: Q9BQL6

1 Blocks protein domain: IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6

Domain: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion

of a PH domain. The FERM domain contains the subdomains F1, F2 and F3. It is preceded by a F0 domain with a

ubiquitin-like fold. The F0 domain is required for integrin activation and for localization at focal adhesions

Similarity: Belongs to the kindlin family

Similarity: Contains 1 FERM domain

Similarity: Contains 1 PH domain

FERMT1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: FERM1_HUMAN, Q9BQL6

Function: Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates

activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal

keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin

and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor

progression

Induction: By TGFB1

Phenotypes:
2 GenomeRNAi human phenotypes for FERMT1:

Increased G1 DNA content

Increased gamma-H2AX phosphory

9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fermt1):

cellular	digestive/alimentary	growth/size/body	homeostasis/metabolism	immune system
integument	mortality/aging	no phenotypic analysis	renal/urinary system

FERMT1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Fermt1^tm1Ref for FERMT1

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FERMT1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FERMT1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FERMT1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FERMT1

miRNA Products:		miRTarBase miRNAs that target FERMT1: hsa-mir-215-5p (MIRT024326), hsa-mir-192-5p (MIRT026139), hsa-mir-125a-5p (MIRT045760), hsa-mir-9-5p (MIRT021380)

		Block miRNA regulation of human, mouse, rat FERMT1 using miScript Target Protectors
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		SwitchGear 3'UTR luciferase reporter plasmid: FERMT1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for FERMT1
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

FERM1_HUMAN, Q9BQL6: Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane;

Peripheral membrane protein; Cytoplasmic side. Note=Constituent of focal adhesions. Localized at the basal aspect

of skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it

localizes to membrane ruffles

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
cytosol	5
plasma membrane	5
nucleus	2
extracellular	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	IDA	17012746
GO:0005925	focal adhesion	IEA	--
GO:0030054	cell junction	IDA	17012746
GO:0031941	filamentous actin	IEA	--
GO:0032587	ruffle membrane	IEA	--

FERMT1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for FERMT1
Interactions:

Search GeneGlobe Interaction Network for FERMT1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for FERMT1 (Q9BQL6^{2, 3} ENSP00000217289⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 819)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IQGAP1	P46940², ENSP00000268182⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000268182
CDC5L	Q99459², ENSP00000360532⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000360532
PARVA	Q9NVD7², ENSP00000334008⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000334008
PARVB	Q9HBI1², ENSP00000384515⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000384515
SNW1	Q13573², ENSP00000261531⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000261531

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Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IDA	17012746
GO:0043616	keratinocyte proliferation	IDA	17012746
GO:0051546	keratinocyte migration	IDA	17012746
GO:0090162	establishment of epithelial cell polarity	IDA	17012746

FERMT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for FERMT1 (FERM1)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FERMT1 gene:

NM_017671.4

Unigene Cluster for FERMT1:

Fermitin family member 1

Hs.472054 [show with all ESTs]

Unigene Representative Sequence: AB105105

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000478194(uc002wmq.3) ENST00000217289(uc002wmr.3 uc010gbt.3 uc002wms.3)

ENST00000378844 ENST00000536936

miRNA Products:		Block miRNA regulation of human, mouse, rat FERMT1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate FERMT1 (see all 9):
		hsa-miR-607 hsa-miR-548o hsa-miR-597 hsa-miR-507 hsa-miR-373* hsa-miR-661 hsa-miR-1323 hsa-miR-24

		SwitchGear 3'UTR luciferase reporter plasmid: FERMT1 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: FERMT1 (NM_017671)
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		QuantiTect SYBR Green Assays in human, mouse, rat FERMT1
		QuantiFast Probe-based Assays in human, mouse, rat FERMT1

Additional mRNA sequence:

AB105105.1 AF443278.1 AK000123.1 AK000747.1 AK027076.1 AK092195.1 AK225216.1 AK314394.1

AY137240.1 BC035882.1 BC040545.1 BX647465.1

6 DOTS entries:

DT.452600 DT.95366560 DT.101981692 DT.75156456 DT.100764477 DT.92426114

Selected AceView cDNA sequences (see all 121):

AB105105 BF513564 BF802635 AI569012 BF222639 CB153128 AA348346 AW136973

AI199117 AW193135 BG910397 AF443278 AY137240 NM_017671 BF591031 AI359970

CB147987 AI380990 BG290655 AK000123 BM769706 BI089714 AW149688 BG681515

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for FERMT1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b
SP1:							-																						-				-
SP2:							-				-								-		-								-				-
SP3:
SP4:							-
SP5:

ECgene alternative splicing isoforms for FERMT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FERMT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACACACAGCA

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FERMT1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Bone (Muscoskeletal System)
Bone Marrow

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Pancreas (Endocrine System)
Islets of Langerhans

Ovary (Reproductive System)
Oviduct

FERMT1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

FERMT1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.472054

UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6

Tissue specificity: Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta.

Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood

leukocytes. Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and

particularly in basal keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts

Custom PCR Arrays for FERMT1

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		QuantiFast Probe-based Assays in human, mouse, rat FERMT1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for FERMT1 gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fermt1^{1 , 5}	fermitin family homolog 1 (Drosophila)^{1, 5}	85.23(n)¹ 87.89(a)¹		2 (64.80 cM)⁵ 241639¹ NM_198029.2¹ NP_932146.2¹ 132904389⁵
chicken (Gallus gallus)	Aves	FERMT1¹	fermitin family member 1	76.42(n) 80.21(a)		416727 XM_004935246.1 XP_004935303.1
lizard (Anolis carolinensis)	Reptilia	FERMT1⁶	fermitin family member 1	77(a)	1 ↔ 1	1(136751313-136788919)
African clawed frog (Xenopus laevis)	Amphibia	BC042247.1²	--	75.99(n)		BC042247.1
zebrafish (Danio rerio)	Actinopterygii	fermt1¹	fermitin family member 1	66.62(n) 68.36(a)		100332544 XM_002665785.3 XP_002665831.3
fruit fly (Drosophila melanogaster)	Insecta	Fit1⁶ Fit2⁶	Fermitin 2	42(a) 39(a)	many ↔ many many ↔ many	3L(4103564-4107116) 3L(17017428-17020217)
worm (Caenorhabditis elegans)	Secernentea	unc-112⁶	Protein UNC-112 (unc-112) mRNA, complete cds	40(a)	1 → many	V(14691852-14696933) WBGene00006836

ENSEMBL Gene Tree for FERMT1 (if available)
TreeFam Gene Tree for FERMT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for FERMT1 gene

FERMT2² FERMT3²

3 SIMAP similar genes for FERMT1 using alignment to 4 protein entries: FERM1_HUMAN (see all proteins):

DTGCU2 FERMT2 FERMT3

FERMT1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_066943⁴		Kindler syndrome (KINDS)⁴	--	see VAR_066943	2	S P	mis⁴		0	--	--	--	--
VAR_066944⁴		Kindler syndrome (KINDS)⁴	--	see VAR_066944	2	W R	mis⁴		0	--	--	--	--
rs121918293^1,2	C	pathogenic¹	6035841(-)	`TCTTAC/TGATTT`	2	R *	stg¹		0	--	--	--	--
rs6117065^1,2	C,F,A,H	--	6002664(+)	`CCTCTA/GTGGGC`	1	--	ds500¹		27		NS EA NA CSA WA	2974
rs117778546^1,2	C,F	--	6002775(+)	`ATTGCC/TGCTGG`	1	--	ds500¹		1		EA	120
rs200537936^1,2	C	--	6002797(+)	`TGCTGG/TTGTGT`	1	--	ds500¹		0	--	--	--	--
rs189851036^1,2		--	6003005(+)	`CTTGGC/TGCTGT`	1	--	ds500¹		0	--	--	--	--
rs6053877^1,2	C,F,A,H	--	6003067(+)	`GGAAAA/CAGTCA`	1	--	ds500¹		16		NS EA WA CSA NA	2138
rs201927426^1,2		--	6003275(+)	`GTATT-/AAAAAA`	1	--	ut3¹		0	--	--	--	--
rs139990090^1,2	C	--	6003318(+)	`TTAGG-/TTTTTGT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FERMT1 (6055492 - 6104191 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for FERMT1: About this table

Variant ID	Type	Subtype	PubMed ID
esv270117	CNV	Insertion	20981092
nsv518036	CNV	Loss	19592680
nsv912647	CNV	Loss	21882294
nsv912648	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): FERMT1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607900
OMIM disorders: 173650
UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6

Kindler syndrome (KINDS) [MIM:173650]: Autosomal recessive skin disorder characterized by skin

blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features

include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk

of mucocutaneous malignancy. Note=The disease is caused by mutations affecting the gene represented in this

entry. Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss

of FERMT1 function, significant clinical variability is observed among patients. There is an association of

FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications

(PubMed:21936020)

16 diseases for FERMT1:
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hereditary acrokeratotic poikiloderma, weary type kindler syndrome skin atrophy epidermolysis bullosa

periodontal disease periodontitis gingivitis esophagitis

pancreatic cancer endotheliitis lung cancer multiple myeloma

myeloma pancreatitis prostatitis breast cancer

1 disease from the University of Copenhagen DISEASES database for FERMT1:

Skin atrophy

FERMT1 for disorders About GeneDecksing

1 Novoseek inferred disease relationship for FERMT1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kindler syndrome	99.2	27	14962093 (2), 17955455 (2), 14987263 (2), 18528435 (2) (see all 16)

Genetic Association Database (GAD): FERMT1
Human Genome Epidemiology (HuGE) Navigator: FERMT1 (1 document)

Export disorders for FERMT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FERMT1 gene, integrated from 10 sources (see all 65):
(articles sorted by number of sources associating them with FERMT1)

Utopia: connect your pdf to the dynamic
world of online information

URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas. (PubMed id 12697302)^{1, 2, 3, 9} Weinstein E.J....Mazzarella R. (Biochim. Biophys. Acta 2003)
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (PubMed id 12789646)^{1, 2, 3, 9} Siegel D.H.... Epstein E.H. Jr. (Am. J. Hum. Genet. 2003)
Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. (PubMed id 17012746)^{1, 2, 9} Herz C.... Has C. (J. Biol. Chem. 2006)
The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. (PubMed id 14634021)^{1, 2, 9} Kloeker S....Beckerle M.C. (J. Biol. Chem. 2004)
The structure of the N-terminus of kindlin-1: a domain important for alphaIIbbeta3 integrin activation. (PubMed id 19804783)^{1, 2, 9} Goult B.T.... Critchley D.R. (J. Mol. Biol. 2009)
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. (PubMed id 12668616)^{1, 2, 9} Jobard F.... Fischer J. (Hum. Mol. Genet. 2003)
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. (PubMed id 21936020)^{1, 2} Has C....Bruckner-Tuderman L. (Hum. Mutat. 2011)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. (PubMed id 18528435)^{1, 9} Lai-Cheong J.E....McGrath J.A. (J. Invest. Dermatol. 2008)
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. (PubMed id 19762715)^{1, 9} Has C....Bruckner-Tuderman L. (Am. J. Pathol. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55612	HGNC: 15889	AceView: C20orf42	Ensembl:ENSG00000101311	euGenes: HUgn55612
ECgene: FERMT1	H-InvDB: FERMT1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FERMT1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FERMT1[genesymbol]

Intellectual Property for FERMT1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FERMT1 gene:
Search GeneIP for patents involving FERMT1

GeneCards and IP:
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Fermitin Family Member 1

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