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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IVL Gene

protein-coding GIFtS: 55
GCID: GC01P152881

involucrin

Explore 72 diseases affiliated with
IVL 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
Involucrin¹

External Ids:	HGNC: 6187¹	Entrez Gene: 3713²	Ensembl: ENSG00000163207⁷	OMIM: 147360⁵	UniProtKB: P07476³

Export aliases for IVL gene to outside databases

Previous GC identifers: GC01P150697 GC01P148663 GC01P149656 GC01P150097 GC01P149695 GC01P151147 GC01P124244

(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 IVL:

Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane

proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin,

loricrin, and calcyclin. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: INVO_HUMAN, P07476

Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia

Gene Wiki entry for IVL (Involucrin)

(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_018912.1 NC_000001.10 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IVL gene promoter:
USF1 AP-1 ATF-2 NF-kappaB HEN1 SREBP-1a USF-1 c-Jun NF-kappaB1 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IVL promoter sequence

Search SABiosciences Chromatin IP Primers for IVL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IVL

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

Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P152881: view genomic region (about GC identifiers)

Start:	152,881,021 bp from pter	End:	152,884,362 bp from pter
Size:	3,342 bases	Orientation:	plus 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: INVO_HUMAN, P07476 (See protein sequence)

Recommended Name: Involucrin

Size: 585 amino acids; 68479 Da

Subunit: Directly or indirectly cross-linked to cornifelin (CNFN)

Subcellular location: Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope

1 PDB 3D structure from and Proteopedia for IVL:

1EU0 (3D)

Secondary accessions: Q5T7P4

Explore the universe of human proteins at neXtProt for IVL: NX_P07476

Post-translational modifications:

Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other involucrin molecules, to other

proteins such as keratin, desmoplakin, periplakin and envoplakin, and to lipids like omega-hydroxyceramide¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P07476

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

REFSEQ proteins: NP_005538.2

ENSEMBL proteins:

ENSP00000357753 ENSP00000376435

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for IVL
	GenScript Custom Purified and Recombinant Proteins Services for IVL
	Novus Biologicals IVL Protein
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for IVL
	Browse Proteins at Uscn

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001533	cornified envelope	IDA	10908733
GO:0005737	cytoplasm	IDA	16639001

IVL for ontologies About GeneDecksing

IVL Antibody Products:

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	Search for Antibodies for IVL at Abcam
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	ThermoFisher Antibodies for IVL

Assay Products for IVL:

	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 IVL
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

IVL for domains About GeneDecksing

4 InterPro domains/families:

IPR019743 Involucrin_CS

IPR002360 Involucrin

IPR019571 Involucrin_N

IPR000354 Involucrin_rpt

Graphical View of Domain Structure for InterPro Entry P07476

ProtoNet protein and cluster: P07476

2 Blocks protein families:

IPB000354 Involucrin repeat

IPB002360 Involucrin

UniProtKB/Swiss-Prot: INVO_HUMAN, P07476

Similarity: Belongs to the involucrin family

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

Function Summary:

UniProtKB/Swiss-Prot: INVO_HUMAN, P07476

Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia

Genatlas biochemistry entry for IVL:

involucrin,precursor of cornified cell enveloppe (major component of keratinocyte cross-linked enveloppe),SPRR

family,cytosol protein ultimately cross-linked to membrane by transglutaminase

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IVL
		1 QIAGEN miScript miRNA Assays for microRNA that regulate IVL:
		hsa-miR-92a-1*
		SwitchGear 3'UTR luciferase reporter plasmid: IVL 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 IVL (see all 7) OriGene shRNA RFP: IVL OriGene siRNA: IVL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IVL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for IVL

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 IVL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IVL OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: IVL (NM_005547)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IVL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IVL

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IVL
		Search LifeMap BioReagents cell lines for IVL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IVL

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	IDA	10908733
GO:0030674	protein binding, bridging	IDA	10908733

IVL for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for IVL:

Increased gamma-H2AX phosphory

Metaphase cells

Animal Models:
Mouse knock-out Ivl^tm1Dji for IVL
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Ivl):

normal

IVL for phenotypes About GeneDecksing

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Validated transcriptional targets of AP1 family members Fra1 and Fra2

Validated transcriptional targets of AP1 family members Fra1 and Fra2

1.00

G-Beta Gamma Signaling

CRHR Pathway

0.44

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for IVL

CRHR Pathway

1 BioSystems Pathway for IVL

Validated transcriptional targets of AP1 family members Fra1 and Fra2

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IVL

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/15 Interacting proteins for IVL (P07476³ ENSP00000357753⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSTA	P01040³, ENSP00000264474⁴	I2D: score=1 STRING: ENSP00000264474
LOR	P23490³, ENSP00000357731⁴	I2D: score=1 STRING: ENSP00000357731
SPRR3	Q9UBC9³, ENSP00000295367⁴	I2D: score=1 STRING: ENSP00000295367
DSP	P15924³, ENSP00000369129⁴	I2D: score=1 STRING: ENSP00000369129
EVPL	Q92817³, ENSP00000301607⁴	I2D: score=2 STRING: ENSP00000301607

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0010224	response to UV-B	IDA	16639001
GO:0018149	peptide cross-linking	IDA	10908733
GO:0018153	isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine	TAS	1601889
GO:0030216	keratinocyte differentiation	IDA	10908733
GO:0031424	keratinization	IEA	--

IVL 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

IVL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IVL
10/87 Novoseek chemical compound relationships for IVL gene (see all 87) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcipotriol	61.8	3	8996256 (1), 11394895 (1), 8818184 (1)
ceramides	60.5	4	7979551 (1), 9209676 (1), 15908761 (1), 9651377 (1)
retinoic acid	56.3	29	19120344 (3), 10389939 (2), 8959344 (2), 7516397 (2) (see all 17)
1,25 dihydroxy vitamin d3	53.1	12	12445200 (4), 8996256 (1), 8359229 (1), 9990355 (1) (see all 5)
ro 31 8220	53	2	12652652 (1), 7512976 (1)
cholesterol-sulfate	52.3	5	11254751 (3)
retinoid	52.3	9	1693821 (2), 8649863 (1), 10210784 (1), 8381448 (1) (see all 6)
12-o-tetradecanoylphorbol 13-acetate	51.3	5	9506439 (2), 1716253 (1), 10636851 (1)
epsilon-(gamma-glutamyl)lysine	51	2	1601889 (1), 10657763 (1)
calcium	49.6	87	1970572 (4), 10469331 (3), 12652652 (3), 7910167 (3) (see all 53)

Search CenterWatch for drugs/clinical trials and news about IVL / INVO

(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, 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 IVL gene:

NM_005547.2

Unigene Cluster for IVL:

Involucrin

Hs.516439 [show with all ESTs]

Unigene Representative Sequence: NM_005547

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

ENST00000368764(uc001fau.3) ENST00000392667

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IVL
		1 QIAGEN miScript miRNA Assays for microRNA that regulate IVL:
		hsa-miR-92a-1*
		SwitchGear 3'UTR luciferase reporter plasmid: IVL 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 IVL (see all 7) OriGene shRNA RFP: IVL OriGene siRNA: IVL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IVL

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IVL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IVL OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: IVL (NM_005547)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IVL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IVL

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

Additional cDNA sequence:

AK300492.1 AK301649.1 BC046391.2

2 DOTS entries:

DT.40305592 DT.100667468

17 AceView cDNA sequences:

BF842492 BF843102 BG288752 NM_005547 BM563605 AI333571 AA582881 AI924634

BG289354 BC046391 BM811601 BX093013 BG679040 AW265277 BG677646 BE551822

BE350364

GeneLoc Exon Structure

(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

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

About this image

IVL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Mandibular Fossa

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.516439

UniProtKB/Swiss-Prot: INVO_HUMAN, P07476

Tissue specificity: Keratinocytes of epidermis and other stratified squamous epithelia

SABiosciences Custom PCR Arrays for IVL

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IVL

(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 eukaryotes.

Orthologs for IVL gene from 6/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ivl^{1 , 5}	involucrin^{1, 5}	56.56(n)¹ 36.04(a)¹		3 (40.14 cM)⁵ 16447¹ NM_008412.2¹ NP_032438.2¹ 92570912⁵
lizard (Anolis carolinensis)	Reptilia	PAXIP1⁶	--		1 ↔ 1	6(5441130-5445866)
fruit fly (Drosophila melanogaster)	Insecta	corto⁶ ph-p⁶ (see all 3)	polyhomeotic proximal (see all 3)	8(a) 4(a) (see all 3)	possible ortholog possible ortholog (see all 3)	3R(904244-912749) X(2020243-2030888)
worm (Caenorhabditis elegans)	Secernentea	Y75B8A.8⁶ pqn-15⁶ (see all 4)	Protein PQN-15 (see all 4)	7(a) 5(a) (see all 4)	possible ortholog 1 ↔ 1 (see all 4)	III(12160787-12170846) X(4303253-4311742)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G72390⁶	uncharacterized protein	4(a)	possible ortholog	1(27245165-27251576)
rice (Oryza sativa)	Liliopsida	--	ribosomal protein L29, putative	7(a)	1 ↔ 1	6(31222503-31225588)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for IVL gene

ZNF853²

IVL 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12239648^1,2	C,F,H,	--	152879091(+)	`TGATTA/TGTTCT`	1	--	us2k¹		15		NA NS EA WA CSA	803
rs16834746^1,2	C,F,H,	--	152879096(+)	`AGTTCT/CTCAGG`	1	--	us2k¹		10		NA NS EA	670
rs12240158^1,2	C,F,H,	--	152879103(+)	`CAGGGC/TAGAGT`	1	--	us2k¹		12		NS EA NA WA CSA	649
rs192400148^1,2		--	152879127(+)	`TCTGCC/TCCAGA`	1	--	us2k¹		0	--	--	--	--
rs139775257^1,2	C,	--	152879143(+)	`GCACAA/GTCCCT`	1	--	us2k¹		0	--	--	--	--
rs78959025^1,2		--	152879150(+)	`CCCTGT/CTCTAT`	1	--	us2k¹		1		WA	118
rs76513010^1,2		--	152879153(+)	`TGTTCT/CATGGG`	1	--	us2k¹		1		WA	118
rs184811636^1,2		--	152879173(+)	`GTGAGC/GTCCCT`	1	--	us2k¹		0	--	--	--	--
rs190444060^1,2		--	152879246(+)	`CTTGTA/GAGTCC`	1	--	us2k¹		0	--	--	--	--
rs193050369^1,2		--	152879266(+)	`CTTTTC/TAGGCA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for IVL (152881021 - 152884362 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for IVL
1 CNV: 3314
1 Indel: 70071

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for IVL

(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

IVL for disorders           About GeneDecksing

OMIM gene information: 147360    OMIM disorders: --

20/72 diseases for IVL (see all 72):    About MalaCards

hailey-hailey disease recessive dystrophic epidermolysis bullosa epidermolysis bullosa epidermolysis bullosa simplex

molluscum contagiosum cauda equina syndrome middle ear cholesteatoma pemphigus foliaceus

congenital ichthyosiform erythroderma intravenous leiomyomatosis cervical intraepithelial neoplasia ichthyosis vulgaris

epidermolytic hyperkeratosis clear cell acanthoma lichen planus squamous cell carcinoma

smooth muscle tumor hemophagocytic lymphohistiocytosis ichthyosis acanthoma

12 diseases from the University of Copenhagen DISEASES database for IVL:

Psoriasis Squamous cell carcinoma Lymphoma Leiomyoma

Congenital ichthyosiform erythroderma Keratosis Dermatitis Hemophagocytic lymphohistiocytosis

Clear cell acanthoma Uterine fibroid Smooth muscle tumor Senile angioma

10/63 Novoseek disease relationships for IVL gene (see all 63) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
parakeratosis	74.8	5	14705799 (2), 9136148 (1), 9138475 (1), 17223863 (1)
psoriasis	70.3	14	9167334 (2), 10738637 (1), 7516410 (1), 15187321 (1) (see all 12)
carcinoma squamous cell	68.9	34	8932948 (3), 7645007 (2), 17878746 (2), 14760391 (2) (see all 26)
skin diseases	62.8	5	9341972 (1), 18312435 (1), 8600780 (1), 10358171 (1) (see all 5)
porokeratosis	57.9	2	8434728 (1), 1719839 (1)
congenital ichthyosis	53.2	2	8740259 (1), 8097623 (1)
other skin disorders	49.3	1	8740259 (1)
metaplasia	49.3	5	15888153 (1), 12665627 (1), 18542030 (1), 19489101 (1)
cholesteatoma middle ear	48.7	1	10406309 (1)
ichthyosis vulgaris	48.1	1	8733372 (1)

Human Genome Epidemiology (HuGE) Navigator: IVL (1 document)

Export disorders for IVL 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 IVL gene, integrated from 9 sources (see all 621):
(articles sorted by number of sources associating them with IVL)

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Structure and evolution of the human involucrin gene. (PubMed id 2873896)^{1, 2, 3} Eckert R.L. and Green H. (1986)
Biophysical characterization of involucrin reveals a molecule ideally suited to function as an intermolecular cross-bridge of the keratinocyte cornified envelope. (PubMed id 1601889)^{1, 2, 9} Yaffe M.B.... Eckert R.L. (1992)
Identification and characterization of a novel component of the cornified envelope, cornifelin. (PubMed id 15147942)^{1, 2, 9} Michibata H.... Imai Y. (2004)
Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. (PubMed id 9651377)^{1, 2, 9} Marekov L.N. and Steinert P.M. (1998)
S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. (PubMed id 9115270)^{1, 2, 9} Robinson N.A.... Eckert R.L. (1997)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The glutamine residues reactive in transglutaminase-catalyzed cross- linking of involucrin. (PubMed id 2461365)^{1, 2} Simon M. and Green H. (1988)
Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope. (PubMed id 8999895)^{1, 9} Steinert P.M. and Marekov L.N. (1997)
Roxithromycin suppresses involucrin expression by modulation of activator protein-1 and nuclear factor-kappaB activities of keratinocytes. (PubMed id 16140218)^{1, 9} Takahashi H....Iizuka H. (2005)
The vitamin D response element of the involucrin gene mediates its regulation by 1,25-dihydroxyvitamin D3. (PubMed id 12445200)^{1, 9} Bikle D.D....Xie Z. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3713	HGNC: 6187	AceView: IVL	Ensembl:ENSG00000163207	euGenes: HUgn3713
ECgene: IVL	H-InvDB: IVL

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for IVL	Pharmacogenomics, SNPs, Pathways

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Patent Information for IVL gene:
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IVL Gene

involucrin

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