Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23162
Gene name Gene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase 8 interacting protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAPK8IP3
Synonyms (NCBI Gene) Gene synonyms aliases
JIP-3, JIP3, JSAP1, NEDBA, SYD2, syd
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDBA
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez 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 reg
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane ISS
GO:0005078 Function MAP-kinase scaffold activity IBA 21873635
GO:0005078 Function MAP-kinase scaffold activity ISS
GO:0005515 Function Protein binding IPI 27107012, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605431 6884 ENSG00000138834
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
28135719
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
28135719
Hypotonia Neonatal Hypotonia rs141138948, rs397517172, rs869312824, rs1583169151
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Associations from Text Mining
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