The ITGB4 gene homepage

General information
Gene symbol ITGB4
Gene name integrin, beta 4
Chromosome 17
Chromosomal band q25.1
Imprinted Unknown
Genomic reference NG_007372.1
Transcript reference NM_000213.3, NM_001005619.1, NM_001005731.1, XM_005257309.1, XM_005257311.2, XM_005257312.1
Associated with diseases Adult junctional epidermolysis bullosa, Epidermolysis bullosa simplex, Cockayne-Touraine type, Epidermolysis bullosa with pyloric atresia
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 409
Unique public DNA variants reported 44
Individuals with public variants 35
Hidden variants 106
Date created November 30, -0001
Date last updated September 28, 2016
Version ITGB4:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:6158
Entrez Gene 3691
PubMed articles ITGB4
OMIM - Gene 147557
OMIM - Diseases Adult junctional epidermolysis bullosa
Epidermolysis bullosa simplex, Cockayne-Touraine type
Epidermolysis bullosa with pyloric atresia


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012271 17 transcript variant 2 NM_001005619.1 NP_001005619.1 409
00012269 17 transcript variant 1 NM_000213.3 NP_000204.3 403
00012270 17 transcript variant 3 NM_001005731.1 NP_001005731.1 403
00038917 17 transcript variant X1 XM_005257309.1 XP_005257366.1 -
00038918 17 transcript variant X3 XM_005257311.2 XP_005257368.1 -
00038919 17 transcript variant X4 XM_005257312.1 XP_005257369.1 -