IVL (involucrin)

2014-11-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 3713
MIM: 147360
HGNC: 6187
Ensembl: ENSG00000163207

Variants:

dbSNP: 3713
ClinVar: 3713
TCGA: ENSG00000163207
COSMIC: IVL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163207ENST00000368764P07476

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10004adalimumabChemicalVariantAnnotationassociatedPD29192552
PA445451PsoriasisDiseaseVariantAnnotationassociatedPD29192552
PA452639infliximabChemicalVariantAnnotationassociatedPD29192552

References

Pubmed IDYearTitleCitations
202080042010Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis.94
181664992008Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6.92
128107192003A regulatory role for p38 delta MAPK in keratinocyte differentiation. Evidence for p38 delta-ERK1/2 complex formation.50
151915372004Regulation of involucrin gene expression.44
186370392009Effects of extracellular calcium on the growth-differentiation switch in immortalized keratinocyte HaCaT cells compared with normal human keratinocytes.38
197017592010Comparison between human fetal and adult skin.33
235994282013Protein kinase C δ increases Kruppel-like factor 4 protein, which drives involucrin gene transcription in differentiating keratinocytes.20
163744772006The distal and proximal regulatory regions of the involucrin gene promoter have distinct functions and are required for in vivo involucrin expression.19
118508022002The human involucrin gene contains spatially distinct regulatory elements that regulate expression during early versus late epidermal differentiation.15
121266242002Transactivation of involucrin, a marker of differentiation in keratinocytes, by lens epithelium-derived growth factor (LEDGF).15

Citation

Dessen P

IVL (involucrin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64702/ivl