Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
605431 6884 ENSG00000138834
Protein Protein information from UniProt database.
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
RSKM
QQVGGNSQTESSLPGRRKERPTSLNVFPLADGTVRAQIGGKLVPAGDHWHLSDLGQ
LQSSSSYQCPQDEMSESGQSSAAATPSTTGTKSNTPTSSVPSAAVTPLNESLQPLGDYGV
GSKNSKRAREKRDSRNMEVQVTQEMRNVSIGMGSSDEWSDVQDIIDSTPELDMCPETRLD
RTGSSPTQGIVNKAFGINTDSLYHELSTAGSEVIGDVDEGADLLGEFSVRDDFFGMGKEV
GNLLLENSQLLETKNALNVVKNDLIAKVDQLSGEQEVLRGELEAAKQAKVKLENRIKELE
EELK
RVKSEAIIARREPKEEAEDVSSYLCTESDKIPMAQRRRFTRVEMARVLMERNQYKE
RLMELQEAVRWTEMIRASREHPSVQEKKKSTIWQFFSRLFSSSSSPPPAKRPYPSVNIHY
KSPTTAGFSQRRNHAMCPISAGSRPLEFFPDDDCTSSARREQKREQYRQVREHVRNDDGR
LQACGWSLPAKYKQLSPNGGQEDTRMKNVPVPVYCRPLVEKDPTMKLWCAAGVNLSGWRP
NEDDAGNGVKPAPGRDPLTCDREGDGEPKSAHTSPEKKKAKELPEMDATSSRVWILTSTL
TTSKVVIIDANQPGTVVDQFTVCNAHVLCISSIPAASDSDYPPGEMFLDSDVNPEDPGAD
GVLAGITLVGCATRCNVPRSNCSSRGDTPVLDKGQGEVATIANGKVNPSQSTEEATEATE
VPDPGPSEPETATLRPGPLTEHVFTDPAPTPSSGPQPGSENGPEPDSSSTRPEPEPSGDP
TGAGSSAAPTMWLGAQNGWLYVHSAVANWKKCLHSIKLKDSVLSLVHVKGRVLVALADGT
LAIFHRGEDGQWDLSNYHLMDLGHPHHSIRCMAVVYDRVWCGYKNKVHVIQPKTMQIEKS
FDAHPRRESQVRQLAWIGDGVWVSIRLDSTLRLYHAHTHQHLQDVDIEPYVSKMLGTGKL
GFSFVRITALLVAGSRLWVGTGNGVVISIPLTET
VVLHRGQLLGLRANKTSPTSGEGARP
GGIIHVYGDDSSDRAASSFIPYCSMAQAQLCFHGHRDAVKFFVSVPGNVLATLNGSVLDS
PAEGPGPAAPASEVEGQKLRNVLVLSGGEGYIDFRIGDGEDDETEEGAGDMSQVKPVLSK
AERSHIIVWQVSYTPE
Sequence length 1336
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  MAPK signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
MAPK8IP3-related disorder Likely pathogenic rs770703007 RCV000735203
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs1567203083 RCV002470976
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
2-3 finger cutaneous syndactyly Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 33788575 Inhibit
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 12105094
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 16141199
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 16141199 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26504170 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly of the 5th finger Camptodactyly of fingers HPO_DG
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 37330543 Associate
★☆☆☆☆
Found in Text Mining only
Dysarthria Dysarthria CLINVAR_DG
★☆☆☆☆
Found in Text Mining only