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    MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 23542, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MAPK8IP2provided by HGNC
    Official Full Name
    mitogen-activated protein kinase 8 interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:6883
    See related
    Ensembl:ENSG00000008735 MIM:607755; AllianceGenome:HGNC:6883
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IB2; IB-2; JIP2; PRKM8IPL
    Summary
    This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]
    Expression
    Biased expression in brain (RPKM 21.8), adrenal (RPKM 2.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAPK8IP2 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50600793..50613978)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51111308..51124536)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51039222..51052406)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14002 Neighboring gene choline kinase beta Neighboring gene CHKB divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51039601-51040101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51047655-51048439 Neighboring gene Sharpr-MPRA regulatory region 5053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:51064758-51065540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14004 Neighboring gene arylsulfatase A Neighboring gene uncharacterized LOC124905149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51073690-51074206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51074207-51074721

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Evaluation of PKM2 and MAPK8IP2 Polymorphism in Ameloblastic Carcinoma: A Retrospective Quantitative Study. Khodayari A, et al. Int J Mol Cell Med, 2012 Fall. PMID 24551779, Free PMC Article
    2. Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1. Mariño Pérez L, et al. Structure, 2024 Sep 5. PMID 39013462
    3. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Aldinger KA, et al. Am J Med Genet A, 2013 Jan. PMID 23225497, Free PMC Article
    4. Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2. Giza J, et al. J Neurosci, 2010 Nov 3. PMID 21048139, Free PMC Article
    5. Differential roles of JIP scaffold proteins in the modulation of amyloid precursor protein metabolism. Taru H, et al. J Biol Chem, 2002 Jul 26. PMID 12023290

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1.
      Title: Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1.
    2. Human IB2 mutation has a role as a contributing genetic factor in chromosome 22-associated cognitive disorders.
      Title: Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2.
    3. there is a signaling module in which IB2 scaffolds a MLK3/MKK/p38delta kinase cascade.
      Title: Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables JUN kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables MAP-kinase scaffold activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables MAP-kinase scaffold activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables MAP-kinase scaffold activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables amyloid-beta binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables kinesin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase activator activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in behavioral fear response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mating behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nonassociative learning ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of stress-activated MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of AMPA receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of NMDA receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of synaptic transmission, glutamatergic ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    C-Jun-amino-terminal kinase-interacting protein 2
    Names
    JNK MAP kinase scaffold protein 2
    JNK MAP kinase scaffold protein JIP2
    JNK-interacting protein 2
    homologous to mouse JIP-1
    islet-brain 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032955.2 RefSeqGene

      Range
      5109..18294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012324.6 → NP_036456.1  C-Jun-amino-terminal kinase-interacting protein 2

      See identical proteins and their annotated locations for NP_036456.1

      Status: REVIEWED

      Source sequence(s)
      AF136382, AI066766, AK094442, U62317
      Consensus CDS
      CCDS74886.1
      UniProtKB/Swiss-Prot
      Q13387, Q96G62, Q99771, Q9NZ59, Q9UKQ4
      UniProtKB/TrEMBL
      Q86VW5
      Related
      ENSP00000330572.4, ENST00000329492.6
      Conserved Domains (2) summary
      cd11942
      Location:608 → 662
      SH3_JIP2; Src homology 3 domain of JNK-interacting protein 2
      cd01212
      Location:679 → 824
      PTB_JIP; JNK-interacting protein-like (JIP) Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50600793..50613978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530679.3 → XP_011528981.1  C-Jun-amino-terminal kinase-interacting protein 2 isoform X1

      UniProtKB/TrEMBL
      Q86VW5
      Conserved Domains (2) summary
      cd11942
      Location:609 → 663
      SH3_JIP2; Src homology 3 domain of JNK-interacting protein 2
      cd01212
      Location:680 → 825
      PTB_JIP; JNK-interacting protein-like (JIP) Phosphotyrosine-binding (PTB) domain

    2. XM_011530680.3 → XP_011528982.1  C-Jun-amino-terminal kinase-interacting protein 2 isoform X2

      UniProtKB/TrEMBL
      Q86VW5
      Conserved Domains (2) summary
      cd11942
      Location:571 → 625
      SH3_JIP2; Src homology 3 domain of JNK-interacting protein 2
      cd01212
      Location:642 → 787
      PTB_JIP; JNK-interacting protein-like (JIP) Phosphotyrosine-binding (PTB) domain

    3. XM_011530681.3 → XP_011528983.1  C-Jun-amino-terminal kinase-interacting protein 2 isoform X3

      UniProtKB/TrEMBL
      Q86VW5
      Conserved Domains (2) summary
      cd11942
      Location:564 → 618
      SH3_JIP2; Src homology 3 domain of JNK-interacting protein 2
      cd01212
      Location:635 → 780
      PTB_JIP; JNK-interacting protein-like (JIP) Phosphotyrosine-binding (PTB) domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51111308..51124536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325363.1 → XP_054181338.1  C-Jun-amino-terminal kinase-interacting protein 2 isoform X1

    2. XM_054325364.1 → XP_054181339.1  C-Jun-amino-terminal kinase-interacting protein 2 isoform X2

    3. XM_054325365.1 → XP_054181340.1  C-Jun-amino-terminal kinase-interacting protein 2 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016431.3: Suppressed sequence

      Description
      NM_016431.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_139124.1: Suppressed sequence

      Description
      NM_139124.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13387.2 GenPept UniProtKB/Swiss-Prot:Q13387

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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