Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
JIP-3,JIP3,JSAP1,NEDBA,SYD2,syd
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23162
MIM: 605431
HGNC: 6884
Ensembl: ENSG00000138834
Variants:
dbSNP: 23162
ClinVar: 23162
TCGA: ENSG00000138834
COSMIC: MAPK8IP3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000138834 | ENST00000250894 | Q9UPT6 |
| ENSG00000138834 | ENST00000356010 | E9PFH7 |
| ENSG00000138834 | ENST00000567849 | H3BN91 |
| ENSG00000138834 | ENST00000610761 | A0A087WYG2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| MAPK signaling pathway | KEGG | ko04010 |
| MAPK signaling pathway | KEGG | hsa04010 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38547289 | 2024 | Molecular mechanism of dynein-dynactin complex assembly by LIS1. | 3 |
| 38547289 | 2024 | Molecular mechanism of dynein-dynactin complex assembly by LIS1. | 3 |
| 37462082 | 2023 | Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy. | 0 |
| 37462082 | 2023 | Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy. | 0 |
| 35013510 | 2022 | JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton. | 8 |
| 35829703 | 2022 | JIP3 interacts with dynein and kinesin-1 to regulate bidirectional organelle transport. | 18 |
| 35013510 | 2022 | JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton. | 8 |
| 35829703 | 2022 | JIP3 interacts with dynein and kinesin-1 to regulate bidirectional organelle transport. | 18 |
| 33788575 | 2021 | Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons. | 27 |
| 34014261 | 2021 | Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway. | 47 |
| 33788575 | 2021 | Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons. | 27 |
| 34014261 | 2021 | Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway. | 47 |
| 30612693 | 2019 | De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. | 24 |
| 30945334 | 2019 | Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. | 17 |
| 30969891 | 2019 | Arf6, JIP3, and dynein shape and mediate macropinocytosis. | 16 |
Citation
Dessen P
MAPK8IP3 (mitogen-activated protein kinase 8 interacting protein 3)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43350/mapk8ip3
