The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuro... See more...

Aliases for MAPK8IP3 Gene

Aliases for MAPK8IP3 Gene

  • Mitogen-Activated Protein Kinase 8 Interacting Protein 3 2 3 5
  • JIP3 2 3 4
  • C-Jun-Amino-Terminal Kinase-Interacting Protein 3 3 4
  • Homolog Of Drosophila Sunday Driver 2 2 3
  • JNK MAP Kinase Scaffold Protein 3 3 4
  • JNK-Interacting Protein 3 3 4
  • KIAA1066 2 4
  • JIP-3 3 4
  • JSAP1 2 3
  • Syd 2 3
  • JNK/Stress-Activated Protein Kinase-Associated Protein 1 3
  • Mitogen-Activated Protein Kinase 8-Interacting Protein 3 4
  • C-Jun-Amino-Terminal Kinase Interacting Protein 3 3
  • JNK/SAPK-Associated Protein-1 3
  • MAPK8IP3 5
  • NEDBA 3
  • SYD2 3

External Ids for MAPK8IP3 Gene

Previous GeneCards Identifiers for MAPK8IP3 Gene

  • GC16P001773
  • GC16P001696
  • GC16P001756

Summaries for MAPK8IP3 Gene

Entrez Gene Summary for MAPK8IP3 Gene

  • The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAPK8IP3 Gene

MAPK8IP3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a Protein Coding gene. Diseases associated with MAPK8IP3 include Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities. Among its related pathways are ERK Signaling and MAPK signaling pathway. Gene Ontology (GO) annotations related to this gene include kinesin binding and receptor signaling complex scaffold activity. An important paralog of this gene is SPAG9.

UniProtKB/Swiss-Prot Summary for MAPK8IP3 Gene

  • The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:12189133). May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Promotes neuronal axon elongation in a kinesin- and JNK-dependent manner. Activates cofilin at axon tips via local activation of JNK, thereby regulating filopodial dynamics and enhancing axon elongation. Its binding to kinesin heavy chains (KHC), promotes kinesin-1 motility along microtubules and is essential for axon elongation and regeneration. Regulates cortical neuronal migration by mediating NTRK2/TRKB anterograde axonal transport during brain development (By similarity). Acts as an adapter that bridges the interaction between NTRK2/TRKB and KLC1 and drives NTRK2/TRKB axonal but not dendritic anterograde transport, which is essential for subsequent BDNF-triggered signaling and filopodia formation (PubMed:21775604).

Gene Wiki entry for MAPK8IP3 Gene

Additional gene information for MAPK8IP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAPK8IP3 Gene

Genomics for MAPK8IP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAPK8IP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAPK8IP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAPK8IP3

Top Transcription factor binding sites by QIAGEN in the MAPK8IP3 gene promoter:
  • Arnt
  • HEN1
  • Nkx2-2
  • Nkx2-5
  • ZIC2

Genomic Locations for MAPK8IP3 Gene

Genomic Locations for MAPK8IP3 Gene
chr16:1,706,183-1,770,351
(GRCh38/hg38)
Size:
64,169 bases
Orientation:
Plus strand
chr16:1,756,184-1,820,318
(GRCh37/hg19)
Size:
64,135 bases
Orientation:
Plus strand

Genomic View for MAPK8IP3 Gene

Genes around MAPK8IP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAPK8IP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAPK8IP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAPK8IP3 Gene

Proteins for MAPK8IP3 Gene

  • Protein details for MAPK8IP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPT6-JIP3_HUMAN
    Recommended name:
    C-Jun-amino-terminal kinase-interacting protein 3
    Protein Accession:
    Q9UPT6
    Secondary Accessions:
    • A2A2B3
    • A7E2B3
    • Q96RY4
    • Q9H4I4
    • Q9H7P1
    • Q9NUG0

    Protein attributes for MAPK8IP3 Gene

    Size:
    1336 amino acids
    Molecular mass:
    147457 Da
    Quaternary structure:
    • Forms homo- or heterooligomeric complexes. The central region of MAPK8IP3 interacts with the C-terminal of MAPK8IP2 but not MAPK8IP1. Binds specific components of the JNK signaling pathway namely MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3 to the N-terminal region, MAP2K4/MKK4 and MAP2K7/MKK7 to the central region and MAP3K11 to the C-terminal region. Binds the TPR motif-containing C-terminal of kinesin light chain, KLC1. Pre-assembled MAPK8IP1 scaffolding complexes are then transported as a cargo of kinesin, to the required subcellular location. Interacts with ROCK1 and this interaction is enhanced by ultraviolet-B (UVB) radiation. Interacts with SH3RF2 (By similarity). Interacts with NTRK2/TRKB and NTRK3/TRKC (By similarity).
    SequenceCaution:
    • Sequence=AAK61290.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA83018.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15727.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB72318.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAPK8IP3 Gene

    Alternative splice isoforms for MAPK8IP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAPK8IP3 Gene

Post-translational modifications for MAPK8IP3 Gene

  • Phosphorylation by ROCK1 is crucial for the recruitment of JNK.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAPK8IP3 Gene

Domains & Families for MAPK8IP3 Gene

Gene Families for MAPK8IP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MAPK8IP3 Gene

GenScript: Design optimal peptide antigens:
  • MAPK8IP3 protein (B7ZMF3_HUMAN)
  • Mitogen-activated protein kinase 8-interacting protein 3 (JIP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UPT6

UniProtKB/Swiss-Prot:

JIP3_HUMAN :
  • Belongs to the JIP scaffold family.
Family:
  • Belongs to the JIP scaffold family.
genes like me logo Genes that share domains with MAPK8IP3: view

Function for MAPK8IP3 Gene

Molecular function for MAPK8IP3 Gene

UniProtKB/Swiss-Prot Function:
The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:12189133). May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Promotes neuronal axon elongation in a kinesin- and JNK-dependent manner. Activates cofilin at axon tips via local activation of JNK, thereby regulating filopodial dynamics and enhancing axon elongation. Its binding to kinesin heavy chains (KHC), promotes kinesin-1 motility along microtubules and is essential for axon elongation and regeneration. Regulates cortical neuronal migration by mediating NTRK2/TRKB anterograde axonal transport during brain development (By similarity). Acts as an adapter that bridges the interaction between NTRK2/TRKB and KLC1 and drives NTRK2/TRKB axonal but not dendritic anterograde transport, which is essential for subsequent BDNF-triggered signaling and filopodia formation (PubMed:21775604).

Phenotypes From GWAS Catalog for MAPK8IP3 Gene

Gene Ontology (GO) - Molecular Function for MAPK8IP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005078 MAP-kinase scaffold activity IEA,ISS --
GO:0005515 protein binding IEA,IPI 27107012
GO:0008432 JUN kinase binding IEA,IBA 21873635
GO:0019894 kinesin binding IEA,ISS --
GO:0030159 receptor signaling complex scaffold activity IBA 21873635
genes like me logo Genes that share ontologies with MAPK8IP3: view
genes like me logo Genes that share phenotypes with MAPK8IP3: view

Human Phenotype Ontology for MAPK8IP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAPK8IP3 Gene

MGI Knock Outs for MAPK8IP3:

Animal Model Products

CRISPR Products

miRNA for MAPK8IP3 Gene

miRTarBase miRNAs that target MAPK8IP3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAPK8IP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAPK8IP3 Gene

Localization for MAPK8IP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAPK8IP3 Gene

Cytoplasm. Golgi apparatus. Cytoplasmic vesicle. Cell projection, growth cone. Cell projection, axon. Cell projection, dendrite. Cytoplasm, perinuclear region. Note=Localized in the soma and growth cones of differentiated neurites and the Golgi and vesicles of the early secretory compartment of epithelial cells. KIF5A/B/C-mediated transportation to axon tips is essential for its function in enhancing neuronal axon elongation. {ECO:0000250 UniProtKB:E9PSK7, ECO:0000250 UniProtKB:Q9ESN9}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAPK8IP3 gene
Compartment Confidence
golgi apparatus 4
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
endosome 2
lysosome 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAPK8IP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,ISS --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with MAPK8IP3: view

Pathways & Interactions for MAPK8IP3 Gene

PathCards logo

SuperPathways for MAPK8IP3 Gene

SuperPathway Contained pathways
1 MAPK signaling pathway
2 TGF-Beta Pathway
.51
3 ERK Signaling
.58
4 Reelin Pathway (Cajal-Retzius cells)
-
5 Arf6 trafficking events
genes like me logo Genes that share pathways with MAPK8IP3: view

Pathways by source for MAPK8IP3 Gene

1 KEGG pathway for MAPK8IP3 Gene
3 Qiagen pathways for MAPK8IP3 Gene
  • JNK Pathway
  • MAPK Signaling
  • Reelin Pathway (Cajal-Retzius cells)

SIGNOR curated interactions for MAPK8IP3 Gene

Gene Ontology (GO) - Biological Process for MAPK8IP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007254 JNK cascade IEA --
GO:0007257 activation of JUN kinase activity IEA,ISS --
GO:0007411 axon guidance IEA --
GO:0007585 respiratory gaseous exchange IEA --
genes like me logo Genes that share ontologies with MAPK8IP3: view

Drugs & Compounds for MAPK8IP3 Gene

(1) Additional Compounds for MAPK8IP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAPK8IP3: view

Transcripts for MAPK8IP3 Gene

mRNA/cDNA for MAPK8IP3 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAPK8IP3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAPK8IP3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18:

ExUns: 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for MAPK8IP3 Gene

GeneLoc Exon Structure for
MAPK8IP3

Expression for MAPK8IP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAPK8IP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAPK8IP3 Gene

This gene is overexpressed in Brain (28.8), Frontal cortex (10.7), and Prostate (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAPK8IP3 Gene



Protein tissue co-expression partners for MAPK8IP3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAPK8IP3

SOURCE GeneReport for Unigene cluster for MAPK8IP3 Gene:

Hs.207763

Evidence on tissue expression from TISSUES for MAPK8IP3 Gene

  • Nervous system(4.8)
  • Spleen(4.4)
  • Skin(2.5)
  • Muscle(2.3)
  • Intestine(2.3)
  • Eye(2.3)
  • Kidney(2.2)
  • Blood(2.2)
  • Adrenal gland(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAPK8IP3 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MAPK8IP3: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MAPK8IP3 Gene

Orthologs for MAPK8IP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAPK8IP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAPK8IP3 30 31
  • 99.03 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MAPK8IP3 31
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MAPK8IP3 30 31
  • 89.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MAPK8IP3 30 31
  • 89.09 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MAPK8IP3 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mapk8ip3 30
  • 86.4 (n)
Mouse
(Mus musculus)
Mammalia Mapk8ip3 30 17 31
  • 86.38 (n)
OneToOne
Chicken
(Gallus gallus)
Aves MAPK8IP3 30 31
  • 80.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MAPK8IP3 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mapk8ip3 30
  • 77.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14022 30
Zebrafish
(Danio rerio)
Actinopterygii mapk8ip3 30 31
  • 70.78 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta syd 31 32
  • 43 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea unc-16 31 32
  • 40 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Species where no ortholog for MAPK8IP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MAPK8IP3 Gene

ENSEMBL:
Gene Tree for MAPK8IP3 (if available)
TreeFam:
Gene Tree for MAPK8IP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAPK8IP3: view image

Paralogs for MAPK8IP3 Gene

Paralogs for MAPK8IP3 Gene

(3) SIMAP similar genes for MAPK8IP3 Gene using alignment to 5 proteins:

  • JIP3_HUMAN
  • B7ZMF3_HUMAN
  • E9PFH7_HUMAN
  • G1UI24_HUMAN
  • H3BN91_HUMAN
genes like me logo Genes that share paralogs with MAPK8IP3: view

Variants for MAPK8IP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAPK8IP3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
711954 Benign: not provided 1,764,312(+) C/T SYNONYMOUS_VARIANT
718593 Benign: not provided 1,706,405(+) C/T SYNONYMOUS_VARIANT
776962 Benign: not provided 1,766,813(+) C/A INTRON_VARIANT
781724 Benign: not provided 1,767,854(+) C/T SYNONYMOUS_VARIANT
803145 Uncertain Significance: Neurodevelopmental disorder with or without variable brain abnormalities%3B NEDBA 1,762,476(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MAPK8IP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAPK8IP3 Gene

Variant ID Type Subtype PubMed ID
dgv4856n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
esv2667640 CNV deletion 23128226
esv2750350 CNV deletion 23290073
esv2750352 CNV deletion 23290073
esv2750353 CNV deletion 23290073
esv2750354 CNV deletion 23290073
esv2750355 CNV deletion 23290073
esv2750356 CNV deletion 23290073
esv2750357 CNV deletion 23290073
esv2750358 CNV deletion 23290073
esv2750359 CNV deletion 23290073
esv2750360 CNV deletion 23290073
esv2750361 CNV deletion 23290073
esv2750364 CNV deletion 23290073
esv2750365 CNV deletion 23290073
esv2750366 CNV deletion 23290073
esv2750367 CNV deletion 23290073
esv2750368 CNV deletion 23290073
esv2750369 CNV deletion 23290073
esv27589 CNV loss 19812545
esv3323889 CNV duplication 20981092
esv3368378 CNV duplication 20981092
esv3637623 CNV loss 21293372
esv3892756 CNV loss 25118596
nsv1051692 CNV loss 25217958
nsv1075908 CNV duplication 25765185
nsv1116104 CNV deletion 24896259
nsv1160328 CNV deletion 26073780
nsv428317 CNV gain 18775914
nsv457335 CNV loss 19166990
nsv457336 CNV loss 19166990
nsv471069 CNV loss 18288195
nsv517196 CNV gain+loss 19592680
nsv518641 CNV loss 19592680
nsv571169 CNV loss 21841781
nsv571170 CNV loss 21841781
nsv571171 CNV gain+loss 21841781
nsv571172 CNV loss 21841781
nsv571173 CNV loss 21841781
nsv827499 CNV gain 20364138
nsv827500 CNV gain 20364138
nsv833118 CNV loss 17160897
nsv952900 CNV deletion 24416366

Variation tolerance for MAPK8IP3 Gene

Residual Variation Intolerance Score: 0.355% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.02; 68.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAPK8IP3 Gene

Human Gene Mutation Database (HGMD)
MAPK8IP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAPK8IP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAPK8IP3 Gene

Disorders for MAPK8IP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAPK8IP3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

JIP3_HUMAN
  • Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443]: A disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and variable brain anomalies including perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum. {ECO:0000269 PubMed:30612693, ECO:0000269 PubMed:30945334}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with MAPK8IP3: view

No data available for Genatlas for MAPK8IP3 Gene

Publications for MAPK8IP3 Gene

  1. De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. (PMID: 30612693) Platzer K … Jamra R (American journal of human genetics 2019) 3 4
  2. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. (PMID: 30945334) Iwasawa S … Kure S (Annals of neurology 2019) 3 4
  3. JIP3 mediates TrkB axonal anterograde transport and enhances BDNF signaling by directly bridging TrkB with kinesin-1. (PMID: 21775604) Huang SH … Chen ZY (The Journal of neuroscience : the official journal of the Society for Neuroscience 2011) 3 4
  4. Mechanical stretch decreases FAK phosphorylation and reduces cell migration through loss of JIP3-induced JNK phosphorylation in airway epithelial cells. (PMID: 19574423) Desai LP … Waters CM (American journal of physiology. Lung cellular and molecular physiology 2009) 3 23
  5. Identification of ROCK1 as an upstream activator of the JIP-3 to JNK signaling axis in response to UVB damage. (PMID: 19036714) Ongusaha PP … Lee SW (Science signaling 2008) 3 4

Products for MAPK8IP3 Gene

Sources for MAPK8IP3 Gene