Gene
C3orf52
chromosome 3 open reading frame 52
- HGNC 26255↗(opens in a new tab)
- Ensembl gene ENSG00000114529↗(opens in a new tab)
- NCBI Gene 79669↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q13.2
- Coordinates
- Chromosome 3: 112,086,389–112,118,210 (GRCh38)
- Exons
- 6 exons across 31.8 kb
- Protein
- 217 amino acids
- Also known as
- FLJ23186, TTMP
- MANE Select transcript
- ENST00000264848.10NM_024616.3
- 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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Hereditary Hypotrichosis, Woolly Hair and Monilethrix
- Hereditary hypotrichosis
Sparse or absent scalp and body hair from childhood, including the LIPH- and LPAR6-related forms.
- 1 GenCC submitter rates it definitive or strong
How C3orf52 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 31.8 kb; 654 of those bases code for the protein.
How a genome test reads C3orf52
2
positions in C3orf52 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 31.8 kb of C3orf52, introns included, not only the 2.2 kb of exons.
Genes linked to the same conditions
- APCDD1APC down-regulated 1Shares 1 condition
- CDH3cadherin 3Shares 1 condition
- CDSNcorneodesmosinShares 1 condition
- DSG4desmoglein 4Shares 1 condition
- HRHR lysine demethylase and nuclear receptor corepressorShares 1 condition
- LIPHlipase HShares 1 condition
- LPAR6lysophosphatidic acid receptor 6Shares 1 condition
- LSSlanosterol synthaseShares 1 condition
- RPL21ribosomal protein L21Shares 1 condition
- SNRPEsmall nuclear ribonucleoprotein polypeptide EShares 1 condition
Traits linked to C3orf52
The Human Phenotype Ontology lists these as features of the rare conditions C3orf52 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.). C3orf52 gene: chromosome 3 open reading frame 52. Retrieved 17 October 2026, from https://dantelabs.com/genes/c3orf52
Dante Labs. C3orf52 gene: chromosome 3 open reading frame 52 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/c3orf52
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