Gene
TMEM127
transmembrane protein 127
- HGNC 26038(opens in a new tab)
- Ensembl gene ENSG00000135956(opens in a new tab)
- NCBI Gene 55654(opens in a new tab)
Summary
- Cytogenetic location
- 2q11.2
- Coordinates
- Chromosome 2: 96,248,514–96,265,997 (GRCh38)
- Exons
- 4 exons across 17.5 kb
- Protein
- 238 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FLJ20507, FLJ22257
- MANE Select transcript
- ENST00000258439.8NM_017849.4
- 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 Pheochromocytoma and Paraganglioma
- Hereditary pheochromocytomaAutosomal dominant
Inherited susceptibility to catecholamine-producing tumours of the adrenal medulla.
- 4 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Biochemical screening and imaging allow tumours to be found and removed early.
- Hereditary pheochromocytoma-paragangliomaAutosomal dominant
A group of syndromes (PPGL types 1-7, TMEM127- and MAX-related) in which variants in SDHB, SDHD, SDHC, SDHA, SDHAF2, MAX or TMEM127 raise the risk of pheochromocytoma and paraganglioma.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Regular blood or urine metanephrine testing and periodic whole-body MRI help find tumours early, before they cause blood-pressure crises; relatives can be offered testing.
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 TMEM127 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
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 6.3 kb of the gene's 17.5 kb; 717 of those bases code for the protein.
How a genome test reads TMEM127
102
positions in TMEM127 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 17.5 kb of TMEM127, introns included, not only the 6.3 kb of exons.
Variants with a page (11)
The TMEM127 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.2T>C | Exon 2 | 96,265,380 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.245-1G>A | Intron 2 | 96,254,998 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.245-1G>C | Intron 2 | 96,254,998 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.410-2A>C | Intron 3 | 96,254,117 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| F83Sfs*3 | c.248del | Exon 3 | 96,254,993 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G5Efs*76 | c.12del | Exon 2 | 96,265,369 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H133R | c.398A>G | Exon 3 | 96,254,844 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I41Rfs*39 | c.117_120del | Exon 2 | 96,265,261 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L155X | c.464T>A | Exon 4 | 96,254,061 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q157X | c.469C>T | Exon 4 | 96,254,056 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to TMEM127
The Human Phenotype Ontology lists these as features of the rare conditions TMEM127 can cause. Each trait's page lists the other genes linked to it.
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.). TMEM127 gene: transmembrane protein 127. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmem127
Dante Labs. TMEM127 gene: transmembrane protein 127 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmem127
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