Gene
ITGA7
integrin subunit alpha 7
- HGNC 6143↗(opens in a new tab)
- Ensembl gene ENSG00000135424↗(opens in a new tab)
- NCBI Gene 3679↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.2
- Coordinates
- Chromosome 12: 55,684,568–55,707,904 (GRCh38)
- Exons
- 25 exons across 23.3 kb
- Protein
- 1,137 amino acids
- MANE Select transcript
- ENST00000257879.11NM_002206.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Muscular Dystrophies
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- 2 GenCC submitters rate it definitive or strong
How ITGA7 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 4.1 kb of the gene's 23.3 kb; 3,414 of those bases code for the protein.
How a genome test reads ITGA7
56
positions in ITGA7 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 23.3 kb of ITGA7, introns included, not only the 4.1 kb of exons.
Genes linked to the same conditions
- B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2Shares 1 condition
- B4GAT1beta-1,4-glucuronyltransferase 1Shares 1 condition
- CHKBcholine kinase betaShares 1 condition
- COL12A1collagen type XII alpha 1 chainShares 1 condition
- COL6A1collagen type VI alpha 1 chainShares 1 condition
- COL6A2collagen type VI alpha 2 chainShares 1 condition
- COL6A3collagen type VI alpha 3 chainShares 1 condition
- CRPPACDP-L-ribitol pyrophosphorylase AShares 1 condition
- DAG1dystroglycan 1Shares 1 condition
- DOK7docking protein 7Shares 1 condition
- DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatoryShares 1 condition
- DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatoryShares 1 condition
Traits linked to ITGA7
The Human Phenotype Ontology lists these as features of the rare conditions ITGA7 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
- Muscle weakness
- Low muscle tone
- Progressive muscle weakness
- Type 1 muscle fiber atrophy
- Abnormally shaped skeletal
- Decreased lung function due to weak breathing muscles
- Fatigable weakness of bulbar muscles
Show 15 more traits
- Flexed joint that cannot be straightened
- Gowers sign
- Poor head control
- Tired easily
- Weakness of muscles of respiration
- Funnel chest
- Generalized muscle weakness
- Kyphoscoliosis
- Muscle weakness between ribs
- Poorly developed skeletal musculature
- Prominent swayback
- Scoliosis
- Fatty replacement of skeletal muscle
- Muscle degeneration
- Muscular dystrophy
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 2026-10-16: 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 Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ITGA7 gene: integrin subunit alpha 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/itga7
Dante Labs. ITGA7 gene: integrin subunit alpha 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/itga7
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