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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JAKMIP2 Gene

protein-coding   GIFtS: 48
GCID: GC05M146949

janus kinase and microtubule interacting protein 2
 Explore 1 disease affiliated with
JAKMIP2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for JAKMIP2    

Aliases
for JAKMIP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Janus Kinase And Microtubule Interacting Protein 21 2     NECC12 3
JAMIP21 2 3     CTCL Tumor Antigen HD-CL-042 3
KIAA05551 3     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


Summaries
for JAKMIP2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for JAKMIP2:
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)




Genomic Views
for JAKMIP2 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_029289.11  
Regulatory elements:
   SABiosciences 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 plasmid: JAKMIP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for JAKMIP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for JAKMIP2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: JKIP2_HUMAN, Q96AA8 (See protein sequence)
Recommended Name: Janus kinase and microtubule-interacting protein 2  
Size: 810 amino acids; 94934 Da
Subcellular location: Golgi apparatus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96AA8

    • JAKMIP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001257863.1  NP_001257870.1  NP_055605.2  

    ENSEMBL proteins: 
     ENSP00000421398   ENSP00000265272   ENSP00000328989  

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    Uscn Proteins for JAKMIP2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    JAKMIP2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for JAKMIP2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    JAKMIP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for JAKMIP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    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 plasmid: JAKMIP2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008017microtubule binding IEA--
    GO:0016301kinase activity ----
    GO:0019900kinase binding IEA--


    JAKMIP2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for JAKMIP2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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

    Drugs & Compounds
    for JAKMIP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for JAKMIP2
    Search CenterWatch for drugs/clinical trials and news about JAKMIP2 / JKIP2 

    Transcripts
    for JAKMIP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for JAKMIP2 gene (3 alternative transcripts): 
    NM_001270934.1  NM_001270941.1  NM_014790.4  

    Unigene Cluster for JAKMIP2:

    Janus kinase and microtubule interacting protein 2
    Hs.184323  [show with all ESTs]
    Unigene Representative Sequence: NM_001270941
    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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    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 plasmid: JAKMIP2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB011127.1 AF273057.1 AK291280.1 AK299724.1 BC003189.1 BC017354.2 EF512550.1 NR_073101.1 

    8 DOTS entries:

    DT.213997  DT.100813089  DT.407187  DT.120873938  DT.213998  DT.40309789  DT.91661708  DT.97784865 

    24/59 AceView cDNA sequences (see all 59):

    AI417140 AA234271 AL137976 N22187 BM674562 AF273057 BC017354 BE792187 
    NM_014790 AA256692 Z42539 BC003189 BM701563 AL515949 AI352492 BQ723088 
    BE501299 AL522661 BX328931 AA491640 CB528842 BX118477 AB011127 AA356433 

    GeneLoc Exon Structure


    Expression
    for JAKMIP2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JAKMIP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAACACTAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    JAKMIP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Epiblast-like cells (Reconstitution of mo...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See JAKMIP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAKMIP2

    SOURCE GeneReport for Unigene cluster: Hs.184323

    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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    Orthologs
    for JAKMIP2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for JAKMIP2 gene from 5/13 species (see all 13)    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 90.42(n)1
    99.25(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 82.38(n)
    94.28(a)    		   416352  XM_414668.3  XP_414668.2 
    lizard
    (Anolis carolinensis)    		 Reptilia JAKMIP26
    		 --
    		 91(a)
    		 1 ↔ 1
    		 2(137287853-137333519)
    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 70.43(n)
    80.75(a)    		   559839  XM_001921741.1  XP_001921776.1 


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

    Paralogs
    for JAKMIP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    JAKMIP2 for paralogs           About GeneDecksing



    Genomic Variants
    for JAKMIP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3458 NCBI SNPs in JAKMIP2 are shown (see all 3458)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1811646871,2
    		--146964571(+) TTACTC/GTCCTG 5 -- ds5001 int10--------
    rs1397357681,2
    		--146964665(+) GCTGTC/TGCTCA 5 -- ds5001 int10--------
    rs1144183211,2
    		--146964671(+) GCTCAT/GGCCTG 5 -- ds5001 int11Minor allele frequency- G:0.01WA 118
    rs1116564821,2
    		--146964743(+) CAGTCC/TGACCA 5 -- int1 ds50013Minor allele frequency- T:0.15CSA EA 123
    rs1864167531,2
    		--146964898(+) GAGATC/TGCACC 5 -- ds5001 int10--------
    rs1429819221,2
    		--146964940(+) CTGTCA/TTAGAA 5 -- int1 ds50010--------
    rs1913194141,2
    		--146964976(+) ACAAAC/GAGCTA 5 -- ds5001 int10--------
    rs126565481,2
    		C,H--146965149(+) CATACA/CGTACA 5 -- int1 nc-transcript-variantut314Minor allele frequency- C:0.00NS EA 416
    rs1154593361,2
    		F,--146965236(+) AAGCAC/TTGAAG 5 -- ut31 nc-transcript-variantint11Minor allele frequency- T:0.03WA 118
    rs10632121,2
    		C,H,--146965538(-) TGTTTT/CTTTTT 5 -- ut31 int1 nc-transcript-variant8Minor allele frequency- C:0.10MN NA WA EA 550

    HapMap Linkage Disequilibrium report for JAKMIP2 (146967990 - 147162338 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for JAKMIP2
         1 Indel: 99317

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    Disorders / Diseases
    for JAKMIP2 gene

    (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.)
    About This Section
    JAKMIP2 for disorders           About GeneDecksing

    OMIM gene information: 611197    OMIM disorders: --

    1 disease for JAKMIP2:    About MalaCards
    cutaneous t cell lymphoma

    Human Genome Epidemiology (HuGE) Navigator: JAKMIP2 (2 documents)

    Export disorders for JAKMIP2 gene to outside databases

    Publications
    for JAKMIP2 gene

    (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)
    About This Section

    PubMed articles for JAKMIP2 gene, integrated from 9 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. (1998)
    2. Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins. (PubMed id 17572408)1, 2 Cruz-Garcia D.... Malagon M.M. (2007)
    3. SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma. (PubMed id 14996095)1, 2 Hartmann T.B.... Eichmueller S. (2004)
    4. 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. (2004)
    5. The Golgi-associated long coiled-coil protein NECC1 pa rticipates in the control of the regulated secretory pathway in PC12 cells. (PubMed id 22250954)1 Cruz-Garcia D....Malagon M.M. (2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Massive hepatomegaly and involvement by Janus Kinase 2-positive myeloproliferative neoplasm. (PubMed id 20890944)1 Lennerz J.K....Iafrate J. (2010)
    8. Fine mapping of the CELIAC2 locus on chromosome 5q31- q33 in the Finnish and Hungarian populations. (PubMed id 19845895)1 Koskinen L.L....Saavalainen P. (2009)
    9. Fine mapping study in Scandinavian families suggests a ssociation between coeliac disease and haplotypes in chromosome region 5q32. (PubMed id 17971050)1 Adamovic S....Naluai A.T. (2008)
    10. A comprehensive screen for SNP associations on chromos ome region 5q31-33 in Swedish/Norwegian celiac disease families. (PubMed id 17551518)1 Amundsen S.S....Naluai A.T. (2007)

    External Searches for JAKMIP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing JAKMIP2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9832 HGNC: 29067 AceView: KIAA0555 Ensembl:ENSG00000176049 euGenes: HUgn9832
    ECgene: JAKMIP2 H-InvDB: JAKMIP2

    Other Databases showing JAKMIP2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0555

    Specialized Databases showing JAKMIP2 gene

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

    Intellectual Property
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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for JAKMIP2 gene:
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