Gene
ERBB4
erb-b2 receptor tyrosine kinase 4
- HGNC 3432↗(opens in a new tab)
- Ensembl gene ENSG00000178568↗(opens in a new tab)
- NCBI Gene 2066↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q34
- Coordinates
- Chromosome 2: 211,375,717–212,538,802 (GRCh38)
- Exons
- 28 exons across 1,163.1 kb
- Protein
- 1,308 amino acids
- Also known as
- ALS19, HER4
- MANE Select transcript
- ENST00000342788.9NM_005235.3
- 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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Get my Genome TestCurated reports relevant to this gene
Amyotrophic Lateral Sclerosis (ALS)
- Amyotrophic Lateral Sclerosis
A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members
Broader groupings
Intellectual Disability
One of 233 genes linked to it
- 1 GenCC submitter rates it definitive or strong
How ERBB4 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 12.1 kb of the gene's 1,163.1 kb; 3,927 of those bases code for the protein.
How a genome test reads ERBB4
3
positions in ERBB4 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 1,163.1 kb of ERBB4, introns included, not only the 12.1 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ALS2alsin Rho guanine nucleotide exchange factor ALS2Shares 1 condition
- ANGangiogeninShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- ANXA11annexin A11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
Traits linked to ERBB4
The Human Phenotype Ontology lists these as features of the rare conditions ERBB4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Generalized muscle weakness
- Decreased lung function due to weak breathing muscles
- Distal muscle wasting
- Fatigable weakness of bulbar muscles
- Fatigable weakness of respiratory muscles
- Fatigable weakness of swallowing muscles
- Involuntary muscle stiffness, contraction, or spasm
- Muscle degeneration
Show 3 more traits
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.). ERBB4 gene: erb-b2 receptor tyrosine kinase 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/erbb4
Dante Labs. ERBB4 gene: erb-b2 receptor tyrosine kinase 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/erbb4
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