Gene
MED13L
mediator complex subunit 13L
- HGNC 22962↗(opens in a new tab)
- Ensembl gene ENSG00000123066↗(opens in a new tab)
- NCBI Gene 23389↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.21
- Coordinates
- Chromosome 12: 115,958,576–116,277,693 (GRCh38)
- Exons
- 31 exons across 319.1 kb
- Protein
- 2,210 amino acids
- Also known as
- KIAA1025, TRAP240L
- Previous symbols
- THRAP2
- MANE Select transcript
- ENST00000281928.9NM_015335.5
- 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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Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How MED13L 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 9.9 kb of the gene's 319.1 kb; 6,633 of those bases code for the protein.
How a genome test reads MED13L
137
positions in MED13L 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 319.1 kb of MED13L, introns included, not only the 9.9 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to MED13L
The Human Phenotype Ontology lists these as features of the rare conditions MED13L can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally large tongue
- Bulbous nose
- Open mouth
- Upward slanting of the opening between the eyelids
- Wide mouth
- Wide nasal bridge
- Asymmetry of the posterior head
- Big lower jaw
Show 19 more traits
- Broad forehead
- Broad head shape
- Depressed nasal bridge
- Downturned corners of mouth
- Eye folds
- High palate
- Horizontal eyebrow
- Low frontal hairline
- Midface retrusion
- Narrow forehead
- Round face
- Short neck
- Short nose
- Skin tag in front of the ear
- Triangular face
- Widely spaced teeth
- Drooping lower lip
- Frontal bossing
- Prominent forehead
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.). MED13L gene: mediator complex subunit 13L. Retrieved 17 October 2026, from https://dantelabs.com/genes/med13l
Dante Labs. MED13L gene: mediator complex subunit 13L [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/med13l
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