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

Gene ID: 9832, updated on 1-Aug-2020

Summary

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
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

Genomic context

See JAKMIP2 in Genome Data Viewer
Location:
5q32
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (147585438..147782796, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (146965002..147162411, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene STK32A antisense RNA 1 Neighboring gene serine/threonine kinase 32A Neighboring gene dihydropyrimidinase like 3 Neighboring gene JAKMIP2 antisense RNA 1 Neighboring gene uncharacterized LOC101927012 Neighboring gene uncharacterized LOC105378218 Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene serine peptidase inhibitor Kazal type 1 Neighboring gene chromosome 5 open reading frame 46

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0555

Gene Ontology Provided by GOA

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

General protein information

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)

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_001270934.2NP_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
    pfam16034
    Location:409581
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:24783
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001270941.2NP_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
    pfam16034
    Location:409602
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:24804
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001282282.2NP_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
    pfam16034
    Location:367560
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:4762
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_014790.5NP_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
    Q96AA8
    Related
    ENSP00000265272.5, ENST00000265272.9
    Conserved Domains (2) summary
    pfam16034
    Location:409602
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:24807
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    147585438..147782796 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010098.2XP_016865587.1  janus kinase and microtubule-interacting protein 2 isoform X1

    Conserved Domains (1) summary
    pfam16034
    Location:428562
    JAKMIP_CC3; JAKMIP CC3 domain
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