Gene
NTRK1
neurotrophic receptor tyrosine kinase 1
- HGNC 8031↗(opens in a new tab)
- Ensembl gene ENSG00000198400↗(opens in a new tab)
- NCBI Gene 4914↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q23.1
- Coordinates
- Chromosome 1: 156,860,865–156,881,850 (GRCh38)
- Exons
- 17 exons across 21 kb
- Protein
- 796 amino acids
- Also known as
- TRK, TRKA, MTC
- MANE Select transcript
- ENST00000524377.7NM_002529.4
- 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 report relevant to this gene
Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)
- Hereditary Sensory and Autonomic Neuropathy
A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).
How NTRK1 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 2.7 kb of the gene's 21 kb; 2,391 of those bases code for the protein.
How a genome test reads NTRK1
177
positions in NTRK1 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 21 kb of NTRK1, introns included, not only the 2.7 kb of exons.
Genes linked to the same conditions
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATL1atlastin GTPase 1Shares 1 condition
- ATL3atlastin GTPase 3Shares 1 condition
- CLCF1cardiotrophin like cytokine factor 1Shares 1 condition
- CRLF1cytokine receptor like factor 1Shares 1 condition
- DNMT1DNA methyltransferase 1Shares 1 condition
- DSTdystoninShares 1 condition
- ELP1elongator acetyltransferase complex subunit 1Shares 1 condition
- KIF1Akinesin family member 1AShares 1 condition
- KLHL7kelch like family member 7Shares 1 condition
- NGFnerve growth factorShares 1 condition
- PRDM12PR/SET domain 12Shares 1 condition
Traits linked to NTRK1
The Human Phenotype Ontology lists these as features of the rare conditions NTRK1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Intellectual disability
- Pain insensitivity
- Self-mutilation
- Abnormality of peripheral nerve conduction
- Impaired temperature sensation
- Abnormal gait
- Can't control feelings
- Decreased number of small peripheral myelinated nerve fibers
Show 14 more traits
- Intellectual disability, mild
- More active than typical
- Nail-biting
- Specific learning disability
- Trophic limb changes
- Abnormal emotional state
- Abnormality of the autonomic nervous system
- Decreased sensation in extremities
- Impulsivity
- Short attention span
- Somatic sensory dysfunction
- Hyperesthesia
- Abnormal autonomic nervous system physiology
- Global developmental delay
Abnormality of the integument
- Lack of sweating
- Absent sweat glands
- Atypical scarring of skin
- Dry skin
- Lichenification
- Poor wound healing
- Excessive sweating
- Acral ulceration
Show 2 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.). NTRK1 gene: neurotrophic receptor tyrosine kinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ntrk1
Dante Labs. NTRK1 gene: neurotrophic receptor tyrosine kinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ntrk1
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