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] See more...

Aliases for JAKMIP2 Gene

Aliases for JAKMIP2 Gene

  • Janus Kinase And Microtubule Interacting Protein 2 2 3 5
  • Janus Kinase And Microtubule-Interacting Protein 2 3 4
  • Neuroendocrine Long Coiled-Coil Protein 1 3 4
  • CTCL Tumor Antigen HD-CL-04 3 4
  • JAMIP2 3 4
  • NECC1 3 4
  • 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. Diseases associated with JAKMIP2 include Cervix Small Cell Carcinoma. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH05J147780 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 518.5 +2.2 2164 5.4 EP300 CTCF ZNF10 ZIC2 RFX1 KLF7 ZEB1 ZNF341 FOXA2 POLR2A JAKMIP2 ENSG00000287630
GH05J147750 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 25.3 +31.9 31947 7.4 USF1 TEAD4 ZNF10 ATF2 OSR2 WT1 ZBTB17 ZNF263 YY1 CEBPB JAKMIP2 ENSG00000287630
GH05J147837 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 10.7 -55.7 -55668 1.9 TCF12 POLR2G NCOR1 KDM6A TCF7 ZBTB25 SKI TEAD1 ZKSCAN8 ZSCAN9 SPINK1 lnc-JAKMIP2-1 JAKMIP2 HSALNG0045667
GH05J147818 Enhancer 1.1 FANTOM5 Ensembl ENCODE 13.5 -37.5 -37453 5.8 EP300 CTCF RAD21 TRIM22 ESRRA FOXA2 SMC3 CBFB ZNF263 YY1 JAKMIP2 ENSG00000248362 ENSG00000251320 SPINK1 HSALNG0045667 lnc-JAKMIP2-1
GH05J147830 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 9.8 -48.8 -48842 4.2 ZSCAN5C POLR2G TGIF2 EP300 CEBPG CEBPB JUND RXRA ATF4 MAX SPINK1 JAKMIP2 lnc-JAKMIP2-1 HSALNG0045667
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JAKMIP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JAKMIP2

Top Transcription factor binding sites by QIAGEN in the JAKMIP2 gene promoter:
  • NF-AT3
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • YY1

Genomic Locations for JAKMIP2 Gene

Genomic Locations for JAKMIP2 Gene
chr5:147,585,438-147,782,848
(GRCh38/hg38)
Size:
197,411 bases
Orientation:
Minus strand
chr5:146,967,990-147,162,338
(GRCh37/hg19)
Size:
194,349 bases
Orientation:
Minus strand

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; Evidence={ECO:0000305};

    Alternative splice isoforms for JAKMIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAKMIP2 Gene

Post-translational modifications for JAKMIP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JAKMIP2 Gene

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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57581 (B4DSG0_HUMAN)
  • Neuroendocrine long coiled-coil protein 1 (JKIP2_HUMAN)
  • JAKMIP2 protein (Q05DV4_HUMAN)

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

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

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 0
cytoskeleton 0
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

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 IEA,IDA --
genes like me logo Genes that share ontologies with JAKMIP2: view

Pathways & Interactions for JAKMIP2 Gene

PathCards logo

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

mRNA/cDNA for JAKMIP2 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for JAKMIP2 Gene

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



Protein tissue co-expression partners for JAKMIP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.63 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JAKMIP2 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAKMIP2 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAKMIP2 31 30
  • 94.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia JAKMIP2 31 30
  • 94.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jakmip2 30
  • 90.88 (n)
mouse
(Mus musculus)
Mammalia Jakmip2 17 31 30
  • 90.57 (n)
chicken
(Gallus gallus)
Aves JAKMIP2 31 30
  • 82.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JAKMIP2 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jakmip2 30
  • 77.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8504 30
zebrafish
(Danio rerio)
Actinopterygii jakmip2 31 30
  • 70.7 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for JAKMIP2: view image

Paralogs for JAKMIP2 Gene

Paralogs for JAKMIP2 Gene

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

  • JKIP2_HUMAN
  • B4DSG0_HUMAN
  • G5E9Y0_HUMAN
  • Q05DV4_HUMAN
genes like me logo Genes that share paralogs with JAKMIP2: view

Variants for JAKMIP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JAKMIP2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs761359853 A colorectal cancer sample p.Arg315Cys
rs3749736 - p.Val106Ile

Additional dbSNP identifiers (rs#s) for JAKMIP2 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for JAKMIP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cervix small cell carcinoma
  • small cell carcinoma of the cervix
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for JAKMIP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with JAKMIP2: view

No data available for 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 54
  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 41 54
  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 41 54
  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 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for JAKMIP2 Gene

Sources for JAKMIP2 Gene