MAPK8IP3 (mitogen-activated protein kinase 8 interacting protein 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23162
Gene name Mitogen-activated protein kinase 8 interacting protein 3
Gene symbol MAPK8IP3
Synonyms (NCBI Gene)
JIP-3JIP3JSAP1NEDBASYD2syd
Chromosome 16
Chromosome location 16p13.3
Summary 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 reg
SNPs SNP information provided by dbSNP.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs770703007 C>G,T Likely-pathogenic Genic upstream transcript variant, synonymous variant, stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1479142047 G>C,T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1567128142 G>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1567198751 T>C Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1567203083 C>T Pathogenic-likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
359
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (359)
miRTarBase ID miRNA Experiments Reference
MIRT044821 hsa-miR-320a CLASH 23622248
MIRT711827 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT711826 hsa-miR-6756-3p HITS-CLIP 19536157
MIRT711825 hsa-miR-5088-3p HITS-CLIP 19536157
MIRT711824 hsa-miR-1248 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane ISS
GO:0000165 Process MAPK cascade IEA
GO:0005078 Function MAP-kinase scaffold activity IBA
GO:0005078 Function MAP-kinase scaffold activity IEA
GO:0005078 Function MAP-kinase scaffold activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605431 6884 ENSG00000138834
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPT6
Protein name C-Jun-amino-terminal kinase-interacting protein 3 (JIP-3) (JNK-interacting protein 3) (JNK MAP kinase scaffold protein 3) (Mitogen-activated protein kinase 8-interacting protein 3)
Protein 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 ve
PDB 4PXJ , 8PR2 , 8PR3 , 8PR4 , 8PTK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09744 Jnk-SapK_ap_N 29 → 184 JNK_SAPK-associated protein-1 Family
PF16471 JIP_LZII 414 → 484 JNK-interacting protein leucine zipper II Coiled-coil
PF19056 WD40_2 943 → 1174 Repeat
Sequence 
MMEIQMDEGGGVVVYQDDYCSGSVMSERVSGLAGSIYREFERLIHCYDEEVVKELMPLVV
NVLENLDSVLSENQEHEVELELLREDNEQLLTQYEREKALRRQAEEKFIEFEDALEQEKK
ELQIQVEHYEFQTRQLELKAKNYADQISRLEERESEMKKEYNALHQRHTEMIQTYVEHIE
RSKMQQVGGNSQTESSLPGRRKERPTSLNVFPLADGTVRAQIGGKLVPAGDHWHLSDLGQ
LQSSSSYQCPQDEMSESGQSSAAATPSTTGTKSNTPTSSVPSAAVTPLNESLQPLGDYGV
GSKNSKRAREKRDSRNMEVQVTQEMRNVSIGMGSSDEWSDVQDIIDSTPELDMCPETRLD
RTGSSPTQGIVNKAFGINTDSLYHELSTAGSEVIGDVDEGADLLGEFSVRDDFFGMGKEV
GNLLLENSQLLETKNALNVVKNDLIAKVDQLSGEQEVLRGELEAAKQAKVKLENRIKELE
EELKRVKSEAIIARREPKEEAEDVSSYLCTESDKIPMAQRRRFTRVEMARVLMERNQYKE
RLMELQEAVRWTEMIRASREHPSVQEKKKSTIWQFFSRLFSSSSSPPPAKRPYPSVNIHY
KSPTTAGFSQRRNHAMCPISAGSRPLEFFPDDDCTSSARREQKREQYRQVREHVRNDDGR
LQACGWSLPAKYKQLSPNGGQEDTRMKNVPVPVYCRPLVEKDPTMKLWCAAGVNLSGWRP
NEDDAGNGVKPAPGRDPLTCDREGDGEPKSAHTSPEKKKAKELPEMDATSSRVWILTSTL
TTSKVVIIDANQPGTVVDQFTVCNAHVLCISSIPAASDSDYPPGEMFLDSDVNPEDPGAD
GVLAGITLVGCATRCNVPRSNCSSRGDTPVLDKGQGEVATIANGKVNPSQSTEEATEATE
VPDPGPSEPETATLRPGPLTEHVFTDPAPTPSSGPQPGSENGPEPDSSSTRPEPEPSGDP
TGAGSSAAPTMWLGAQNGWLYVHSAVANWKKCLHSIKLKDSVLSLVHVKGRVLVALADGT
LAIFHRGEDGQWDLSNYHLMDLGHPHHSIRCMAVVYDRVWCGYKNKVHVIQPKTMQIEKS
FDAHPRRESQVRQLAWIGDGVWVSIRLDSTLRLYHAHTHQHLQDVDIEPYVSKMLGTGKL
GFSFVRITALLVAGSRLWVGTGNGVVISIPLTETVVLHRGQLLGLRANKTSPTSGEGARP
GGIIHVYGDDSSDRAASSFIPYCSMAQAQLCFHGHRDAVKFFVSVPGNVLATLNGSVLDS
PAEGPGPAAPASEVEGQKLRNVLVLSGGEGYIDFRIGDGEDDETEEGAGDMSQVKPVLSK
AERSHIIVWQVSYTPE
Sequence length 1336
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  MAPK signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
161
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MAPK8IP3-related disorder Likely pathogenic rs770703007 RCV000735203
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs1567203083 RCV002470976
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Likely pathogenic; Pathogenic rs2547945615, rs2548090655, rs2547945307, rs770703007, rs1567128142, rs1567198751, rs1567203083, rs1567214097, rs1479142047, rs2037399601, rs1596766963 RCV002470481
RCV003148576
RCV003321468
RCV000779602
RCV000779601
RCV000779603
RCV000779604
RCV000779605
RCV000993678
RCV001172334
RCV001172335
Show/Hide Unknown Diseases (21)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
2-3 finger cutaneous syndactyly Uncertain significance rs1478237675 RCV001290434
Acute myeloid leukemia Benign rs117342699 RCV005930126
Cervical cancer Likely benign; Benign rs754927638, rs117342699 RCV005911198
RCV005930130
Cholangiocarcinoma Benign rs2294616 RCV005918118
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 33788575
Alzheimer Disease Inhibit 33788575
Brain Neoplasms Associate 16141199
Breast Neoplasms Associate 26504170
Dementia Associate 37330543
Edema Associate 35013510
Heredodegenerative Disorders Nervous System Associate 35013510
Neoplasms Associate 16141199, 26504170, 32485038
Neurodegenerative Diseases Associate 37330543
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 24159609