Gene
TNFRSF1A
TNF receptor superfamily member 1A
- HGNC 11916(opens in a new tab)
- Ensembl gene ENSG00000067182(opens in a new tab)
- NCBI Gene 7132(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.31
- Coordinates
- Chromosome 12: 6,328,771–6,342,076 (GRCh38)
- Exons
- 10 exons across 13.3 kb
- Protein
- 455 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55
- Previous symbols
- TNFR1
- MANE Select transcript
- ENST00000162749.7NM_001065.4
- 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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Hereditary Periodic Fever Syndromes
- TNF receptor-associated periodic syndrome (TRAPS)Autosomal dominant
Caused by changes in TNFRSF1A, it leads to prolonged fever episodes with abdominal pain, muscle pain, rash and eye swelling.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
What knowing changes
Anti-inflammatory and interleukin-1 blocking treatment reduces attacks and the long-term risk of kidney amyloidosis.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How TNFRSF1A 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 2.2 kb of the gene's 13.3 kb; 1,368 of those bases code for the protein.
How a genome test reads TNFRSF1A
20
positions in TNFRSF1A 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 13.3 kb of TNFRSF1A, introns included, not only the 2.2 kb of exons.
Traits linked to TNFRSF1A
The Human Phenotype Ontology lists these as features of the rare conditions TNFRSF1A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Abdominal pain
- Diarrhea
- Constipation
- Intestinal obstruction
- Vomiting
- Chronic constipation
- Chronic diarrhea
- Enlarged liver
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.). TNFRSF1A gene: TNF receptor superfamily member 1A. Retrieved 17 October 2026, from https://dantelabs.com/genes/tnfrsf1a
Dante Labs. TNFRSF1A gene: TNF receptor superfamily member 1A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tnfrsf1a
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