AtlasGene
ITGB4
integrin subunit beta 4
- HGNC 6158↗(opens in a new tab)
- Ensembl gene ENSG00000132470↗(opens in a new tab)
- NCBI Gene 3691↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.1
- Coordinates
- Chromosome 17: 75,721,459–75,757,818 (GRCh38)
- Exons
- 40 exons across 36.4 kb
- Protein
- 1,822 amino acids
- Also known as
- CD104
- MANE Select transcript
- ENST00000200181.8NM_000213.5
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
AtlasThis page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/itgb4.json"
page <- fromJSON(url)
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Epidermolysis Bullosa
- Inherited epidermolysis bullosa
All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.
- 6 GenCC submitters rate it definitive or strong
▶Actionability
Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.
How ITGB4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.9 kb of the gene's 36.4 kb; 5,469 of those bases code for the protein.
Sequencing ITGB4
6Low
How hard ITGB4 is to sequence with short reads, out of 100Each bar is the share of ITGB4's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.2.6%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.53%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
63
positions in ITGB4 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 36.4 kb of ITGB4, introns included, not only the 5.9 kb of exons.
Genes linked to the same conditions
- CD151CD151 molecule (Raph blood group)Shares 1 condition
- COL17A1collagen type XVII alpha 1 chainShares 1 condition
- COL7A1collagen type VII alpha 1 chainShares 1 condition
- DSPdesmoplakinShares 1 condition
- DSTdystoninShares 1 condition
- EXPH5exophilin 5Shares 1 condition
- FERMT1FERM domain containing kindlin 1Shares 1 condition
- ITGA3integrin subunit alpha 3Shares 1 condition
- ITGA6integrin subunit alpha 6Shares 1 condition
- JUPjunction plakoglobinShares 1 condition
- KLHL24kelch like family member 24Shares 1 condition
- KRT14keratin 14Shares 1 condition
Traits linked to ITGB4
The Human Phenotype Ontology lists these as features of the rare conditions ITGB4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Abnormal blistering of the skin
- Aplasia cutis congenita on trunk or limbs
- Detachment of outermost fingernails
- Hypoplastic dermoepidermal hemidesmosomes
- Lamina lucida cleavage
- Poor nail formation
- Stratum basale cleavage
- Thick nail
Show 26 more traits
- Abnormal skin pigmentation
- Absence of part of skin at birth
- Aplasia cutis congenita over the scalp vertex
- Congenital localized absence of skin
- Fragile skin
- Milk spot
- Sparse body hair
- Sunken or indented skin due to damage
- Absent axillary hair
- Absent nails
- Absent pubic hair
- Acral blistering
- Atrophic, patchy alopecia
- Limited armpit hair
- Open skin sore
- Skin detachment
- Skin erosion
- Skin fragility with non-scarring blistering
- Sparse pubic hair
- Focal absence of scalp tissue
- Poor fingernail formation
- Poor toenail formation
- Pterygium
- Atypical scarring of skin
- Atypical nail growth
- Axillary pterygium
Abnormality of the genitourinary system
- Narrowing of the urethra
- Urethrovesical occlusion
- Absent bladder
- Hydronephrosis
- Renal dysplasia
- Ureterocele
- Urethral stricture
- Urinary bladder inflammation
Show 3 more traits
Abnormality of head or neck
- Early loss of adult teeth
- Oral mucosal blisters
- Cranial defect
- Hair loss on scalp from scarring condition
- Abnormality of dental color
- Dental enamel pits
- Thin dental enamel
- Bell's palsy
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). ITGB4 gene: integrin subunit beta 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/itgb4
Dante Labs. ITGB4 gene: integrin subunit beta 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/itgb4
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