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JAKMIP2 Gene

protein-coding   GIFtS: 48
GCID: GC05M146949

Janus Kinase And Microtubule Interacting Protein 2

  Search for JAKMIP2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Janus Kinase And Microtubule Interacting Protein 21 2     CTCL Tumor Antigen HD-CL-042 3
JAMIP22 3 5     KIAA05553 5
NECC12 3 5     Jak And Microtubule Interacting Protein 22
Neuroendocrine Long Coiled-Coil Protein 12 3     Janus Kinase And Microtubule-Interacting Protein 22

External Ids:    HGNC: 290671   Entrez Gene: 98322   Ensembl: ENSG000001760497   OMIM: 6111975   UniProtKB: Q96AA83   

Export aliases for JAKMIP2 gene to outside databases

Previous GC identifer: GC05M142117


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for JAKMIP2 Gene:
The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein
by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2012)

GeneCards Summary for JAKMIP2 Gene:
JAKMIP2 (janus kinase and microtubule interacting protein 2) is a protein-coding gene. GO annotations related to this gene include microtubule binding and kinase binding. An important paralog of this gene is JAKMIP3.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the JAKMIP2 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   YY1   POU2F1   POU2F1a   NF-AT3   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJAKMIP2 promoter sequence
   Search Chromatin IP Primers for JAKMIP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JAKMIP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

JAKMIP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAKMIP2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M146949:  view genomic region     (about GC identifiers)

Start:
146,967,990 bp from pter      End:
147,162,338 bp from pter
Size:
194,349 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: JKIP2_HUMAN, Q96AA8 (See protein sequence)
Recommended Name: Janus kinase and microtubule-interacting protein 2  
Size: 810 amino acids; 94934 Da
Sequence caution: Sequence=BAA25481.2; Type=Frameshift; Positions=805;
Secondary accessions: A4ZZA7 A8K5G5 O60302 Q548S1
Alternative splicing: 3 isoforms:  Q96AA8-1   Q96AA8-2   Q96AA8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JAKMIP2: NX_Q96AA8

Explore proteomics data for JAKMIP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JAKMIP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001257863.1  NP_001257870.1  NP_001269211.1  NP_055605.2  

    ENSEMBL proteins: 
     ENSP00000421398   ENSP00000265272   ENSP00000328989  

    JAKMIP2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR024836 JAKMIP

    Graphical View of Domain Structure for InterPro Entry Q96AA8

    ProtoNet protein and cluster: Q96AA8

    UniProtKB/Swiss-Prot: JKIP2_HUMAN, Q96AA8
    Similarity: Belongs to the JAKMIP family


    Find genes that share domains with JAKMIP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008017microtubule binding IEA--
    GO:0016301kinase activity ----
    GO:0019900kinase binding IEA--
         
    Find genes that share ontologies with JAKMIP2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for JAKMIP2
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    miRNA
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    miRTarBase miRNAs that target JAKMIP2:
    hsa-mir-103a-3p (MIRT027136), hsa-mir-335-5p (MIRT018139)

    Block miRNA regulation of human, mouse, rat JAKMIP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate JAKMIP2 (see all 20):
    hsa-miR-30c hsa-miR-607 hsa-miR-218-1* hsa-miR-30d hsa-miR-103a hsa-miR-1297 hsa-miR-9 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidJAKMIP2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAKMIP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    JKIP2_HUMAN, Q96AA8: Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus3
    cytosol2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--

    Find genes that share ontologies with JAKMIP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JAKMIP2
    Interactions:

        Search GeneGlobe Interaction Network for JAKMIP2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for JAKMIP2 (Q96AA82, 3 ENSP000002652724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM29Q141342, 3, ENSP000003431294MINT-68356 I2D: score=5 STRING: ENSP00000343129
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for JAKMIP2 (JKIP2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for JAKMIP2 gene (4 alternative transcripts): 
    NM_001270934.1  NM_001270941.1  NM_001282282.1  NM_014790.4  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507386(uc010jgo.1) ENST00000265272(uc003loq.1 uc011dbx.1 uc003lor.1)
    ENST00000333010 ENST00000504845 ENST00000507343
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate JAKMIP2 (see all 20):
    hsa-miR-30c hsa-miR-607 hsa-miR-218-1* hsa-miR-30d hsa-miR-103a hsa-miR-1297 hsa-miR-9 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidJAKMIP2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat JAKMIP2
      QuantiFast Probe-based Assays in human, mouse, rat JAKMIP2

    Selected AceView cDNA sequences (see all 59):

    AI417140 BC017354 Z42539 BC003189 BM701563 N22187 AA256692 BE792187 
    AF273057 NM_014790 AA234271 AL137976 BM674562 AL515948 AI962693 M79044 
    AA436379 BX952999 BE550372 BQ027330 AW006280 BP361177 BE266599 AI352492 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JAKMIP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAACACTAG
    JAKMIP2 Expression
    About this image


    JAKMIP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Epiblast (Early Embryonic Tissues)
             Epiblast-like cells
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
    JAKMIP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JAKMIP2 Protein Expression

    UniProtKB/Swiss-Prot: JKIP2_HUMAN, Q96AA8
    Tissue specificity: Highly expressed in brain, moderately expressed in thymus, spleen and lung, and weakly
    expressed in kidney, liver and peripheral blood lymphocytes. Also expressed in adrenal and pituitary glands, as
    well as testis

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAKMIP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for JAKMIP2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jakmip21 , 5 janus kinase and microtubule interacting protein 21, 5 90.57(n)1
    99.27(a)1
      18 (23.36 cM)5
    762171  NM_001163637.11  NP_001157109.11 
     435314085 
    chicken
    (Gallus gallus)
    Aves JAKMIP21 janus kinase and microtubule interacting protein 2 82.64(n)
    94.39(a)
      416352  XM_004945056.1  XP_004945113.1 
    lizard
    (Anolis carolinensis)
    Reptilia JAKMIP26
    janus kinase and microtubule interacting protein 2...
    91(a)
    1 ↔ 1
    2(137225594-137333540)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.85042 Xenopus laevis transcribed sequence with moderate similarity more 77.05(n)    AW158464.1 
    zebrafish
    (Danio rerio)
    Actinopterygii jakmip21 janus kinase and microtubule interacting protein 2 70.7(n)
    81.07(a)
      559839  XM_001921741.2  XP_001921776.2 


    ENSEMBL Gene Tree for JAKMIP2 (if available)
    TreeFam Gene Tree for JAKMIP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for JAKMIP2 gene
    JAKMIP32  JAKMIP12  
    2 SIMAP similar genes for JAKMIP2 using alignment to 4 protein entries:     JKIP2_HUMAN (see all proteins):
    JAKMIP3    JAKMIP1

    Find genes that share paralogs with JAKMIP2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for JAKMIP2 (see all 2194)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359304
    A colorectal cancer sample4--see VAR_0359302 R C mis40--------
    rs1454752171,2
    --147042152(+) TCCCCC/TACTTC 4 -- int10--------
    rs1821212551,2
    C--147042202(+) TCTCTC/TTCTGT 4 -- int10--------
    rs68604551,2
    C,F,A--147042409(+) tgggcT/Gtggtg 4 -- int13Minor allele frequency- G:0.33NA WA CSA 6
    rs1406048341,2
    C--147042558(+) AAAAA-/AGAAGA 4 -- int10--------
    rs68620461,2
    C,F,A--147042626(+) GATATC/TGagtc 4 -- int111Minor allele frequency- T:0.37NA WA CSA EA 506
    rs1407544711,2
    --147042661(+) TTTTAC/TAAAAT 4 -- int10--------
    rs1452946961,2
    --147042676(+) GTTAAG/TAACCT 4 -- int10--------
    rs1450410151,2
    C--147042833(+) AAGGAA/GATTAA 4 -- int10--------
    rs791774541,2
    C,F--147042887(+) TAGGTG/AGGCAC 4 -- int12Minor allele frequency- A:0.13NA EA 240

    HapMap Linkage Disequilibrium report for JAKMIP2 (146967990 - 147162338 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for JAKMIP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5056CNV Insertion18451855
    esv2454562CNV Insertion19546169

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing JAKMIP2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611197    OMIM disorders: --


    Find genes that share disorders with JAKMIP2           About GenesLikeMe

    Genetic Association Database (GAD): JAKMIP2
    Human Genome Epidemiology (HuGE) Navigator: JAKMIP2 (2 documents)

    Export disorders for JAKMIP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for JAKMIP2 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with JAKMIP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. (PubMed id 19845895)1, 4 Koskinen L.L....Saavalainen P. (Tissue Antigens 2009)
    4. Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins. (PubMed id 17572408)1, 2 Cruz-Garcia D.... Malagon M.M. (FEBS Lett. 2007)
    5. SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma. (PubMed id 14996095)1, 2 Hartmann T.B.... Eichmueller S. (Br. J. Dermatol. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The Golgi-associated long coiled-coil protein NECC1 participates in the control of the regulated secretory pathway in PC12 cells. (PubMed id 22250954)1 Cruz-GarcA-a D....MalagA^n M.M. (Biochem. J. 2012)
    8. Massive hepatomegaly and involvement by Janus Kinase 2-positive myeloproliferative neoplasm. (PubMed id 20890944)1 Lennerz J.K....Iafrate J. (Hepatology 2010)
    9. Fine mapping study in Scandinavian families suggests association between coeliac disease and haplotypes in chromosome region 5q32. (PubMed id 17971050)1 Adamovic S....Naluai A.T. (Tissue Antigens 2008)
    10. A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish/Norwegian celiac disease families. (PubMed id 17551518)1 Amundsen S.S....Naluai A.T. (Eur. J. Hum. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9832 HGNC: 29067 AceView: KIAA0555 Ensembl:ENSG00000176049 euGenes: HUgn9832
    ECgene: JAKMIP2 H-InvDB: JAKMIP2

    (According to HUGE)
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    HUGE: KIAA0555

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for JAKMIP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for JAKMIP2 gene:
    Search GeneIP for patents involving JAKMIP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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