Gene
MADD
MAP kinase activating death domain
- HGNC 6766↗(opens in a new tab)
- Ensembl gene ENSG00000110514↗(opens in a new tab)
- NCBI Gene 8567↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p11.2
- Coordinates
- Chromosome 11: 47,270,133–47,330,031 (GRCh38)
- Exons
- 37 exons across 59.9 kb
- Protein
- 1,650 amino acids
- Also known as
- DENN, KIAA0358, RAB3GEP, IG20
- MANE Select transcript
- ENST00000706887.1NM_001376571.1
- 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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How MADD 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 6 kb of the gene's 59.9 kb; 4,953 of those bases code for the protein.
How a genome test reads MADD
19
positions in MADD 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 59.9 kb of MADD, introns included, not only the 6 kb of exons.
Traits linked to MADD
The Human Phenotype Ontology lists these as features of the rare conditions MADD can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Narrow mouth
- High forehead
- High palate
- Asymmetry of the posterior head
- Broad forehead
- Dental crowding
- Depressed nasal bridge
- Eye folds
Show 20 more traits
- Frontal bossing
- Full lips
- Highly arched eyebrow
- Little lower jaw
- Long eyelashes
- Long philtrum
- Long, narrow head
- Low hairline at back of neck
- Low insertion of columella
- Narrow forehead
- Narrow palate
- Nasal tip, upturned
- Pointed chin
- Prominent nasal tip
- Receding chin
- Short neck
- Short nose
- Short opening between the eyelids
- Short philtrum
- Underdeveloped tissue around nostril
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.
- 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.). MADD gene: MAP kinase activating death domain. Retrieved 16 October 2026, from https://dantelabs.com/genes/madd
Dante Labs. MADD gene: MAP kinase activating death domain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/madd
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