Gene
CRLF1
cytokine receptor like factor 1
- HGNC 2364↗(opens in a new tab)
- Ensembl gene ENSG00000006016↗(opens in a new tab)
- NCBI Gene 9244↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p12
- Coordinates
- Chromosome 19: 18,593,237–18,606,799 (GRCh38)
- Exons
- 9 exons across 13.6 kb
- Protein
- 422 amino acids
- Also known as
- CLF-1, CLF, CISS, CISS1
- MANE Select transcript
- ENST00000392386.8NM_004750.5
- 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.
- 3 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 CRLF1 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 1.7 kb of the gene's 13.6 kb; 1,269 of those bases code for the protein.
How a genome test reads CRLF1
19
positions in CRLF1 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 13.6 kb of CRLF1, introns included, not only the 1.7 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
- 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
- NTRK1neurotrophic receptor tyrosine kinase 1Shares 1 condition
- PRDM12PR/SET domain 12Shares 1 condition
Traits linked to CRLF1
The Human Phenotype Ontology lists these as features of the rare conditions CRLF1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Permanent flexion of the finger
- Club feet
- Dropped arches
- Elbow flexion contracture
- Inward turned thumb
- Limited elbow extension
- Radial deviation of finger
- Short palm
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 2026-10-16: 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.). CRLF1 gene: cytokine receptor like factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/crlf1
Dante Labs. CRLF1 gene: cytokine receptor like factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/crlf1
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