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    JAKMIP2 janus kinase and microtubule interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 9832, updated on 27-Nov-2024

    Summary

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    Official Symbol
    JAKMIP2provided by HGNC
    Official Full Name
    janus kinase and microtubule interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:29067
    See related
    Ensembl:ENSG00000176049 MIM:611197; AllianceGenome:HGNC:29067
    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
    NECC1; JAMIP2
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 6.2), adrenal (RPKM 0.9) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JAKMIP2 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (147585438..147782728, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148121180..148318420, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (146965001..147162291, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene STK32A antisense RNA 1 Neighboring gene serine/threonine kinase 32A Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81891 Neighboring gene dihydropyrimidinase like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16489 Neighboring gene NANOG hESC enhancer GRCh37_chr5:146835510-146836011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:146935385-146935884 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:146940356-146941285 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:146946379-146947278 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:146947279-146948178 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:146948179-146949078 Neighboring gene JAKMIP2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:147051411-147052610 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147101014-147101804 Neighboring gene uncharacterized LOC105378218 Neighboring gene uncharacterized LOC124901101 Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene serine peptidase inhibitor Kazal type 1

    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
    • 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. Linkage Analysis of the Chromosome 5q31-33 Region Identifies JAKMIP2 as a Risk Factor for Graves' Disease in the Chinese Han Population. Li J, et al. Med Sci Monit, 2019 Feb 23. PMID 30796769, Free PMC Article
    2. Global gene expression profiling of PAX-FKHR fusion-positive alveolar and PAX-FKHR fusion-negative embryonal rhabdomyosarcomas. Laé M, et al. J Pathol, 2007 Jun. PMID 17471488
    3. A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish/Norwegian celiac disease families. Amundsen SS, et al. Eur J Hum Genet, 2007 Sep. PMID 17551518
    4. Fine mapping study in Scandinavian families suggests association between coeliac disease and haplotypes in chromosome region 5q32. Adamovic S, et al. Tissue Antigens, 2008 Jan. PMID 17971050
    5. The Golgi-associated long coiled-coil protein NECC1 participates in the control of the regulated secretory pathway in PC12 cells. Cruz-García D, et al. Biochem J, 2012 Apr 15. PMID 22250954

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. individuals with SNP62 (rs12653715 G/C) who were GG homozygous had a significantly increased risk of Graves' disease. The transmission disequilibrium test (TDT) indicated that SNP62 (rs12653715) and SNP63 (rs12653081) loci in the Janus kinase and microtubule interacting protein 2 (JAKMIP2) gene showed dominant transmission from heterozygous parents to the affected offspring.
      Title: Linkage Analysis of the Chromosome 5q31-33 Region Identifies JAKMIP2 as a Risk Factor for Graves' Disease in the Chinese Han Population.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations.
    4. NECC 1 & 2 proteins primarily expressed in (neuro)endocrine tissues in vertebrates thus supporting a role for these proteins in the regulated secretory pathway.
      Title: Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0555

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    janus kinase and microtubule-interacting protein 2
    Names
    CTCL tumor antigen HD-CL-04
    Jak and microtubule interacting protein 2
    neuroendocrine long coiled-coil protein 1

    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.

    mRNA and Protein(s)

    1. NM_001270934.2 → NP_001257863.1  janus kinase and microtubule-interacting protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001257863.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AB011127, AC126775, DB072234
      Consensus CDS
      CCDS59495.1
      UniProtKB/Swiss-Prot
      Q96AA8
      Related
      ENSP00000421398.1, ENST00000507386.5
      Conserved Domains (2) summary
      COG1196
      Location:24 → 783
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16034
      Location:410 → 581
      JAKMIP_CC3; JAKMIP CC3 domain

    2. NM_001270941.2 → NP_001257870.1  janus kinase and microtubule-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001257870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB011127, AC126775, DB072234, EF512550
      Consensus CDS
      CCDS75352.1
      UniProtKB/Swiss-Prot
      Q96AA8
      Related
      ENSP00000479248.1, ENST00000616793.5
      Conserved Domains (2) summary
      COG1196
      Location:24 → 804
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16034
      Location:410 → 602
      JAKMIP_CC3; JAKMIP CC3 domain

    3. NM_001282282.2 → NP_001269211.1  janus kinase and microtubule-interacting protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001269211.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate, in-frame exon in the 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC126775, AF273057, AK299724, DB072234
      Consensus CDS
      CCDS64284.1
      UniProtKB/Swiss-Prot
      Q96AA8
      Related
      ENSP00000328989.6, ENST00000333010.6
      Conserved Domains (2) summary
      COG1196
      Location:4 → 762
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16034
      Location:368 → 560
      JAKMIP_CC3; JAKMIP CC3 domain

    4. NM_014790.5 → NP_055605.2  janus kinase and microtubule-interacting protein 2 isoform 3

      See identical proteins and their annotated locations for NP_055605.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC126775, AF273057, DB072234
      Consensus CDS
      CCDS4285.1
      UniProtKB/Swiss-Prot
      A4ZZA7, A8K5G5, B4DSG0, G5E9Y0, O60302, Q548S1, Q96AA8
      Related
      ENSP00000265272.5, ENST00000265272.9
      Conserved Domains (2) summary
      COG1196
      Location:24 → 807
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16034
      Location:409 → 602
      JAKMIP_CC3; JAKMIP CC3 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      147585438..147782728 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417951.1 → XP_047273907.1  janus kinase and microtubule-interacting protein 2 isoform X3

    2. XM_047417950.1 → XP_047273906.1  janus kinase and microtubule-interacting protein 2 isoform X2

    3. XM_047417949.1 → XP_047273905.1  janus kinase and microtubule-interacting protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      148121180..148318420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353919.1 → XP_054209894.1  janus kinase and microtubule-interacting protein 2 isoform X3

    2. XM_054353918.1 → XP_054209893.1  janus kinase and microtubule-interacting protein 2 isoform X2

    3. XM_054353917.1 → XP_054209892.1  janus kinase and microtubule-interacting protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AA8.1 GenPept UniProtKB/Swiss-Prot:Q96AA8

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