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Aliases for JAKMIP2 Gene

Aliases for JAKMIP2 Gene

  • Janus Kinase And Microtubule Interacting Protein 2 2 3 5
  • Neuroendocrine Long Coiled-Coil Protein 1 3 4
  • CTCL Tumor Antigen HD-CL-04 3 4
  • JAMIP2 3 4
  • NECC1 3 4
  • Janus Kinase And Microtubule-Interacting Protein 2 3
  • Jak And Microtubule Interacting Protein 2 3
  • KIAA0555 4

External Ids for JAKMIP2 Gene

Previous GeneCards Identifiers for JAKMIP2 Gene

  • GC05M146949
  • GC05M142117

Summaries for JAKMIP2 Gene

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. Gene Ontology (GO) annotations related to this gene include microtubule binding and kinase binding. An important paralog of this gene is JAKMIP1.

Additional gene information for JAKMIP2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAKMIP2 Gene

Genomics for JAKMIP2 Gene

GeneHancer (GH) Regulatory Elements for JAKMIP2 Gene

Promoters and enhancers for JAKMIP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I147780 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 568.6 +1.2 1164 3.4 SIN3A BMI1 ZNF2 ZEB1 GLIS2 ZNF366 KLF7 ZNF362 SP3 REST JAKMIP2 GC05M147757 LOC105378218
GH05I147804 Enhancer 1 FANTOM5 Ensembl ENCODE 13.7 -22.3 -22284 1.5 CEBPB CEBPG GABPA POLR2A FOXP2 ETV6 ATF7 RUNX3 MYC SPI1 GC05M147757 JAKMIP2 SPINK14 GC05P147800
GH05I147837 Enhancer 1.1 FANTOM5 ENCODE 10.7 -55.7 -55668 1.9 ELF3 FOXA2 DNMT3B ZSCAN9 RARA CREM THAP11 MIXL1 HMG20B RXRA SPINK1 JAKMIP2 GC05M147824
GH05I147451 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.2 +328.9 328892 5.6 SIN3A ZNF2 ETS1 GLIS2 ZNF143 KLF7 KLF13 SP3 REST ZNF518A DPYSL3 STK32A STK32A-AS1 JAKMIP2 PPP2R2B GC05P147435
GH05I147822 Enhancer 0.7 ENCODE 11.2 -40.0 -40015 0 SMARCA5 CTCF ESRRA ZNF654 ZNF777 RB1 CBFB TRIM22 RAD21 ZNF518A JAKMIP2 ENSG00000248362 ENSG00000251320 GC05M147824 GC05M147757
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around JAKMIP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the JAKMIP2 gene promoter:

Genomic Locations for JAKMIP2 Gene

Genomic Locations for JAKMIP2 Gene
chr5:147,585,439-147,782,848
(GRCh38/hg38)
Size:
197,410 bases
Orientation:
Minus strand
chr5:146,967,990-147,162,338
(GRCh37/hg19)

Genomic View for JAKMIP2 Gene

Genes around JAKMIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAKMIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAKMIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAKMIP2 Gene

Proteins for JAKMIP2 Gene

  • Protein details for JAKMIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AA8-JKIP2_HUMAN
    Recommended name:
    Janus kinase and microtubule-interacting protein 2
    Protein Accession:
    Q96AA8
    Secondary Accessions:
    • A4ZZA7
    • A8K5G5
    • B4DSG0
    • G5E9Y0
    • O60302
    • Q548S1

    Protein attributes for JAKMIP2 Gene

    Size:
    810 amino acids
    Molecular mass:
    94934 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA25481.2; Type=Frameshift; Positions=805; Evidence={ECO:0000305};

    Alternative splice isoforms for JAKMIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAKMIP2 Gene

Post-translational modifications for JAKMIP2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for JAKMIP2 Gene

Domains & Families for JAKMIP2 Gene

Gene Families for JAKMIP2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for JAKMIP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JAKMIP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96AA8

UniProtKB/Swiss-Prot:

JKIP2_HUMAN :
  • Belongs to the JAKMIP family.
Family:
  • Belongs to the JAKMIP family.
genes like me logo Genes that share domains with JAKMIP2: view

Function for JAKMIP2 Gene

Phenotypes From GWAS Catalog for JAKMIP2 Gene

Gene Ontology (GO) - Molecular Function for JAKMIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008017 microtubule binding IEA --
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with JAKMIP2: view

Phenotypes for JAKMIP2 Gene

GenomeRNAi human phenotypes for JAKMIP2:
genes like me logo Genes that share phenotypes with JAKMIP2: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for JAKMIP2 Gene

Localization for JAKMIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAKMIP2 Gene

Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAKMIP2 gene
Compartment Confidence
golgi apparatus 5
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for JAKMIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA,IEA --
genes like me logo Genes that share ontologies with JAKMIP2: view

Pathways & Interactions for JAKMIP2 Gene

SuperPathways for JAKMIP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for JAKMIP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for JAKMIP2 Gene

Drugs & Compounds for JAKMIP2 Gene

No Compound Related Data Available

Transcripts for JAKMIP2 Gene

Unigene Clusters for JAKMIP2 Gene

Janus kinase and microtubule interacting protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for JAKMIP2 Gene

No ASD Table

Relevant External Links for JAKMIP2 Gene

GeneLoc Exon Structure for
JAKMIP2
ECgene alternative splicing isoforms for
JAKMIP2

Expression for JAKMIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JAKMIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JAKMIP2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.5) and Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for JAKMIP2 Gene

This gene is overexpressed in Ovary (67.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for JAKMIP2 Gene



Protein tissue co-expression partners for JAKMIP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JAKMIP2 Gene:

JAKMIP2

SOURCE GeneReport for Unigene cluster for JAKMIP2 Gene:

Hs.744926

mRNA Expression by UniProt/SwissProt for JAKMIP2 Gene:

Q96AA8-JKIP2_HUMAN
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.

Evidence on tissue expression from TISSUES for JAKMIP2 Gene

  • Nervous system(4.4)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with JAKMIP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for JAKMIP2 Gene

Orthologs for JAKMIP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for JAKMIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JAKMIP2 33 34
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia JAKMIP2 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAKMIP2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAKMIP2 33 34
  • 94.84 (n)
cow
(Bos Taurus)
Mammalia JAKMIP2 33 34
  • 94.19 (n)
rat
(Rattus norvegicus)
Mammalia Jakmip2 33
  • 90.88 (n)
mouse
(Mus musculus)
Mammalia Jakmip2 33 16 34
  • 90.57 (n)
chicken
(Gallus gallus)
Aves JAKMIP2 33 34
  • 82.64 (n)
lizard
(Anolis carolinensis)
Reptilia JAKMIP2 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jakmip2 33
  • 77.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8504 33
zebrafish
(Danio rerio)
Actinopterygii jakmip2 33 34
  • 70.7 (n)
Species where no ortholog for JAKMIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for JAKMIP2 Gene

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

Paralogs for JAKMIP2 Gene

Paralogs for JAKMIP2 Gene

(2) SIMAP similar genes for JAKMIP2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with JAKMIP2: view

Variants for JAKMIP2 Gene

Sequence variations from dbSNP and Humsavar for JAKMIP2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs761359853 A colorectal cancer sample 147,644,990(-) G/A coding_sequence_variant, missense_variant
rs1000017751 -- 147,775,402(-) C/T intron_variant
rs1000023369 -- 147,743,867(-) G/A intron_variant
rs1000063890 -- 147,656,118(-) G/A intron_variant
rs1000063922 -- 147,782,667(-) A/G 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for JAKMIP2 Gene

Variant ID Type Subtype PubMed ID
esv2454562 CNV insertion 19546169
esv3570486 CNV loss 25503493
nsv1021356 CNV gain 25217958
nsv1117591 CNV deletion 24896259
nsv5056 CNV insertion 18451855

Variation tolerance for JAKMIP2 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 39.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JAKMIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAKMIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAKMIP2 Gene

Disorders for JAKMIP2 Gene

Additional Disease Information for JAKMIP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for JAKMIP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JAKMIP2 Gene

Publications for JAKMIP2 Gene

  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. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. (PMID: 19845895) Koskinen LL … Saavalainen P (Tissue antigens 2009) 3 44 58
  4. Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins. (PMID: 17572408) Cruz-Garcia D … Malagon MM (FEBS letters 2007) 3 4 58
  5. SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma. (PMID: 14996095) Hartmann TB … Eichmüller S (The British journal of dermatology 2004) 3 4 58

Products for JAKMIP2 Gene

Sources for JAKMIP2 Gene

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