Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FERMT1 Gene

protein-coding GIFtS: 55
GCID: GC20M006055

fermitin family member 1

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

Explore 10 diseases affiliated with
FERMT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fermitin Family Member 1¹ ²		Fermitin Family Homolog 1 (Drosophila)¹
C20orf42¹ ² ³ ⁵		DTGCU2²
KIND1¹ ² ³ ⁵		Fermitin Family Homolog 1²
URP1¹ ² ³ ⁵		Kindlerin³
UNC112A¹ ²		Kindlin 1²
Kindlin Syndrome Protein² ³		UNC112 Related Protein 1²
Unc-112-Related Protein 1² ³		Kindlerin³
FLJ20116¹		Kindlin-1³
Chromosome 20 Open Reading Frame 42¹

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FERMT1:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011387.8

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for FERMT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: 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

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BQL6

FERMT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060141.3

ENSEMBL proteins:

ENSP00000217289 ENSP00000368121 ENSP00000441063

Human Recombinant Protein Products for FERMT1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: FERMT1 OriGene Protein Over-expression Lysate: FERMT1 OriGene Custom Protein Services for FERMT1
	GenScript Custom Purified and Recombinant Proteins Services for FERMT1
	Novus Biologicals FERMT1 Proteins Novus Biologicals FERMT1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FERMT1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): 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

FERMT1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of FERMT1
	Browse R&D Systems for Antibodies
	OriGene Antibodies: FERMT1 OriGene Custom Antibody Services for FERMT1
	GenScript Custom Superior Antibodies Services for FERMT1
	Novus Biologicals FERMT1 Antibodies
	Abcam antibodies for FERMT1
	Uscn Antibodies for FERMT1
	ThermoFisher Antibodies for FERMT1

Assay Products for FERMT1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FERMT1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FERMT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FERMT1 for domains About GeneDecksing

5/6 InterPro domains/families (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 family: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005543	phospholipid binding	IEA	--

FERMT1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for FERMT1:

Increased G1 DNA content

Increased gamma-H2AX phosphory

8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Fermt1):

cellular	digestive/alimentary	growth/size	homeostasis/metabolism	immune system
integument	mortality/aging	renal/urinary system

FERMT1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Fermt1^tm1Ref for FERMT1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FERMT1

miRNA Products:		OriGene 3'-UTR Clone: FERMT1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FERMT1
		8/9 QIAGEN miScript miRNA 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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FERMT1 (see all 7) OriGene shRNA RFP: FERMT1 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FERMT1
		Sirion Biotech Custom design and validation of potent shRNA sequences against FERMT1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for FERMT1
			Sirion Biotech Customized adenovirus for overexpression of FERMT1 Sirion Biotech Customized adenovirus for potent knockdown of FERMT1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FERMT1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FERMT1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FERMT1 (NM_017671)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FERMT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FERMT1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FERMT1
		Search LifeMap BioReagents cell lines for FERMT1
		Sirion Biotech Customized stable knockdown cell line services for FERMT1 Sirion Biotech Customized inducible knockdown cell line services for FERMT1 Sirion Biotech Customized stable overexpressing cell line services for FERMT1 Sirion Biotech Customized inducible overexpressing cell line services for FERMT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FERMT1

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

5/783 Interacting proteins for FERMT1 (Q9BQL6^{2, 3} ENSP00000217289⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 783)

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
SNW1	Q13573², ENSP00000261531⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000261531
SRPK1	Q96SB4³, ENSP00000391069⁴	I2D: score=1 STRING: ENSP00000391069
ABCF1	Q8NE71²	MINT-7945693 MINT-7947479

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): 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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FERMT1
Search CenterWatch for drugs/clinical trials and news about FERMT1 / FERM1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

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

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

ENST00000468424(uc002wmt.3) ENST00000378844 ENST00000536936

miRNA Products:		OriGene 3'-UTR Clone: FERMT1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FERMT1
		8/9 QIAGEN miScript miRNA 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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FERMT1 (see all 7) OriGene shRNA RFP: FERMT1 Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FERMT1
		Sirion Biotech Custom design and validation of potent shRNA sequences against FERMT1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FERMT1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FERMT1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FERMT1 (NM_017671)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FERMT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FERMT1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FERMT1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FERMT1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FERMT1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FERMT1

Additional cDNA 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

24/121 AceView cDNA sequences (see all 121):

CB147987 AA348346 AB105105 AW193135 BF513564 BG910397 AI569012 AI199117

BF222639 BF802635 NM_017671 AF443278 AI359970 AY137240 AW136973 BF591031

CB153128 AK000747 CB114673 AA348345 AI424300 BC040545 BM769706 AI910783

GeneLoc Exon Structure

5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FERMT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACACACAGCA

About this image

FERMT1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FERMT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FERMT1

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

SABiosciences Custom PCR Arrays for FERMT1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FERMT1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FERMT1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FERMT1
		QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FERMT1 gene from 7/21 species (see all 21) 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_415024.3 XP_415024.2
lizard (Anolis carolinensis)	Reptilia	FERMT1⁶	--	78(a)	1 ↔ 1	1(136757430-136788919)
African clawed frog (Xenopus laevis)	Amphibia	BC042247.1²	--	75.99(n)		BC042247.1
zebrafish (Danio rerio)	Actinopterygii	fermt1¹	fermitin family member 1	66.51(n) 68.49(a)		100332544 XM_002665785.2 XP_002665831.2
fruit fly (Drosophila melanogaster)	Insecta	Fit1⁶ Fit2⁶	Fermitin 2	41(a) 40(a)	many ↔ many many ↔ many	3L(4103564-4107116) 3L(17017428-17020217)
worm (Caenorhabditis elegans)	Secernentea	unc-112⁶	Protein unc-112	40(a)	1 → many	V(14691837-14696918)

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)
About This Section

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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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
				--	--	--		--	--
rs200537936^1,2	C	--	6011848(+)	`TGCTGG/TTGTGT`	1	--	ds500¹		0	--	--	--	--
rs6053877^1,2	C,F,A,H	--	6012117(+)	`GGAAAA/CAGTCA`	1	--	ds500¹		16		NS EA WA CSA NA	2138
rs199611203^1,2	C	--	6012388(-)	`TGTGAA/CAAAAA`	1	--	ut3¹		0	--	--	--	--
rs6117066^1,2	C,F,A,H	--	6012480(+)	`AAACAA/TAGTTG`	1	--	ut3¹		14		NS EA NA WA CSA	809
rs11087715^1,2	C	--	6012720(+)	`GTATAA/-TACGG`	1	--	ut3¹		2		NA CSA	4
rs6139908^1,2	C,H	--	6012813(+)	`ACTTCT/CGAGCT`	1	--	ut3¹ ese³		4		NS EA	420
rs113096626^1,2		--	6013139(+)	`GTGGCA/CGAACA`	1	--	ut3¹		2		CSA WA	120
rs111645039^1,2		--	6013302(+)	`AGCACC/TGTCTC`	1	--	ut3¹		1		CSA	2
rs8116177^1,2	H	--	6013395(+)	`CCAAAG/ATCCTT`	1	--	ut3¹ ese³		4		NS EA	416
rs41282956^1,2		--	6013421(+)	`GAGTCA/GTACCA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FERMT1 (6055492 - 6104191 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FERMT1: --
Human Gene Mutation Database (HGMD): FERMT1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FERMT1

DNA2.0 Custom Variant and Variant Library Synthesis for FERMT1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FERMT1 for disorders           About GeneDecksing

OMIM gene information: 607900
OMIM disorders: 173650
UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6

Defects in FERMT1 are the cause of Kindler syndrome (KINDS) [MIM:173650]. An 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=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)

10 diseases for FERMT1: About MalaCards

kindler syndrome epidermolysis bullosa skin atrophy periodontitis

periodontal disease colon carcinoma gingivitis colon cancer

carcinoma prostatitis

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

Skin atrophy

1 Novoseek 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)

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)
About This Section

PubMed articles for FERMT1 gene, integrated from 9 sources (see all 58):
(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. (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. (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. (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. (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. (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. (2003)
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. (PubMed id 21936020)^{1, 2} Has C....Bruckner-Tuderman L. (2011)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (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. (2008)
Kindlin-1 Is required for RhoGTPase-mediated lamellip odia formation in keratinocytes. (PubMed id 19762715)^{1, 9} Has C....Bruckner-Tuderman L. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 55612	HGNC: 15889	AceView: C20orf42	Ensembl:ENSG00000101311	euGenes: HUgn55612
ECgene: FERMT1	H-InvDB: FERMT1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FERMT1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FERMT1

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

About This Section

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

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

	EMD Millipore Mono- and Polyclonal Antibodies for the study of FERMT1
	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	Browse for Gene Knock-down Tools from EMD Millipore
	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse Small Molecules at EMD Millipore
	Browse Kits and Assays available from EMD Millipore

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for FERMT1		OriGene shRNA RFP for FERMT1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FERMT1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FERMT1
	OriGene Protein Over-expression Lysate for FERMT1		Browse OriGene Fluorogenic Cell Assay Kits
	Browse OriGene siRNAs		OriGene 3'-UTR Clone for FERMT1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FERMT1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FERMT1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for FERMT1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for FERMT1		OriGene Custom Protein Services for FERMT1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FERMT1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FERMT1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FERMT1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FERMT1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FERMT1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FERMT1

	GenScript Custom Purified and Recombinant Proteins Services for FERMT1		GenScript cDNA clones with any tag delivered in your preferred vector for FERMT1
	GenScript Custom Assay Services for FERMT1		GenScript Custom Superior Antibodies Services for FERMT1
	GenScript Custom overexpressing Cell Line Services for FERMT1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in FERMT1 promoter
	Search Chromatin IP Primers for FERMT1
	RT² qPCR Primer Assay in human, mouse, rat FERMT1
	Search GNC Networks for FERMT1
	SABiosciences Custom PCR Arrays for FERMT1

Search Tocris compounds for FERMT1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	FERMT1 antibodies
	FERMT1 proteins
	FERMT1 lysates

	Antibodies for FERMT1
	See all of Abcam's Antibodies, Kits and Proteins for FERMT1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

FERMT1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for FERMT1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT1

	SwitchGear 3'UTR luciferase reporter plasmids for FERMT1
	SwitchGear Promoter luciferase reporter plasmids for FERMT1

ThermoFisher Antibodies for FERMT1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FERMT1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FERMT1

Sirion Biotech Customized:

	stable knockdown cell line services for FERMT1
	inducible knockdown cell line services for FERMT1
	design and validation of potent shRNA sequences against FERMT1
	adenovirus for potent knockdown of FERMT1
	adenovirus for overexpression of FERMT1
	stable overexpressing cell line services for FERMT1
	inducible overexpressing cell line services for FERMT1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FERMT1 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

FERMT1 Gene

fermitin family member 1

Aliases
for FERMT1 gene

Summaries
for FERMT1 gene

Genomic Views
for FERMT1 gene

Proteins
for FERMT1 gene

Protein Domains /
Families
for FERMT1 gene

Function
for FERMT1 gene

Pathways & Interactions
for FERMT1 gene

Drugs & Compounds
for FERMT1 gene

Transcripts
for FERMT1 gene

Expression
for FERMT1 gene

Orthologs
for FERMT1 gene

Paralogs
for FERMT1 gene

Genomic Variants
for FERMT1 gene

Disorders / Diseases
for FERMT1 gene

Publications
for FERMT1 gene

External Searches for FERMT1 gene

Genome Databases showing FERMT1 gene

Other Databases showing FERMT1 gene

Specialized Databases showing FERMT1 gene

Intellectual Property
for FERMT1 gene

Products
for FERMT1 gene

View Random Gene

Advanced Search

Export list of displayed genes

FERMT1 Gene

fermitin family member 1

Aliasesfor FERMT1 gene

Summariesfor FERMT1 gene

Genomic Viewsfor FERMT1 gene

Proteinsfor FERMT1 gene

Protein Domains /Familiesfor FERMT1 gene

Functionfor FERMT1 gene

Pathways & Interactionsfor FERMT1 gene

Drugs & Compoundsfor FERMT1 gene

Transcriptsfor FERMT1 gene

Expression for FERMT1 gene

Orthologsfor FERMT1 gene

Paralogsfor FERMT1 gene

Genomic Variantsfor FERMT1 gene

Disorders / Diseasesfor FERMT1 gene

Publicationsfor FERMT1 gene

External Searches for FERMT1 gene

Genome Databases showing FERMT1 gene

Other Databases showing FERMT1 gene

Specialized Databases showing FERMT1 gene

Intellectual Propertyfor FERMT1 gene

Productsfor FERMT1 gene

View Random Gene

Aliases
for FERMT1 gene

Summaries
for FERMT1 gene

Genomic Views
for FERMT1 gene

Proteins
for FERMT1 gene

Protein Domains /
Families
for FERMT1 gene

Function
for FERMT1 gene

Pathways & Interactions
for FERMT1 gene

Drugs & Compounds
for FERMT1 gene

Transcripts
for FERMT1 gene

Expression
for FERMT1 gene

Orthologs
for FERMT1 gene

Paralogs
for FERMT1 gene

Genomic Variants
for FERMT1 gene

Disorders / Diseases
for FERMT1 gene

Publications
for FERMT1 gene

Intellectual Property
for FERMT1 gene

Products
for FERMT1 gene