AtlasGene
MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3
- HGNC 6884↗(opens in a new tab)
- Ensembl gene ENSG00000138834↗(opens in a new tab)
- NCBI Gene 23162↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p13.3
- Coordinates
- Chromosome 16: 1,706,195–1,770,351 (GRCh38)
- Exons
- 32 exons across 64.2 kb
- Protein
- 1,337 amino acids
- Also known as
- KIAA1066, JSAP1, JIP3, syd
- MANE Select transcript
- ENST00000610761.2NM_001318852.2
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated report relevant to this gene
MAPK8IP3-Related Neurodevelopmental Disorder
- Autosomal dominant
Caused by a change in one copy of the MAPK8IP3 gene (also called JIP3), which links motor proteins to cargo during transport along axons. Several reported changes arose de novo.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
▶Actionability
Developmental, educational and therapy support, with neurology, eye and behavioural assessment as needed. Several changes have arisen de novo, so genetic counselling and parental testing can guide recurrence risk.
How MAPK8IP3 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 5.7 kb of the gene's 64.2 kb; 4,014 of those bases code for the protein.
Sequencing MAPK8IP3
16
positions in MAPK8IP3 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 64.2 kb of MAPK8IP3, introns included, not only the 5.7 kb of exons.
ClinVar pathogenic variants (16)
The MAPK8IP3 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 3
- Pathogenic/likely pathogenic 2
- Likely pathogenic 11
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) (opens in a new tab) | neurodevelopmental disorder and 1 other | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001318852.2(MAPK8IP3):c.79G>T (p.Glu27Ter) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_001318852.2(MAPK8IP3):c.1363G>T (p.Glu455Ter) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.1402C>T (p.Gln468Ter) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.2214_2215del (p.Leu739fs) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.167T>A (p.Met56Lys) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.318+1G>A (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.748-2A>C (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.2139_2154del (p.Val714fs) (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001318852.2(MAPK8IP3):c.3238-1G>A (opens in a new tab) | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
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 2026-10-18: 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.
- Data release 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). MAPK8IP3 gene: mitogen-activated protein kinase 8 interacting protein 3. Retrieved 18 October 2026, from https://dantelabs.com/genes/mapk8ip3
Dante Labs. MAPK8IP3 gene: mitogen-activated protein kinase 8 interacting protein 3 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/mapk8ip3
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