Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ITM2C Gene

protein-coding   GIFtS: 59
GCID: GC02P231729

Integral Membrane Protein 2C

Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Integral Membrane Protein 2C1 2     BRICD2C2
BRI32 3 5     E252
BRICHOS Domain Containing 2C1 2     E25C2
Cerebral Protein 142 3     ITM32
Transmembrane Protein BRI32 3     Integral Membrane Protein 32

External Ids:    HGNC: 61751   Entrez Gene: 816182   Ensembl: ENSG000001359167   OMIM: 6095545   UniProtKB: Q9NQX73   

Export aliases for ITM2C gene to outside databases

Previous GC identifers: GC02U990099 GC02P230461 GC02P231693 GC02P231932 GC02P231555 GC02P231437 GC02P223571


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

TryGeneCards Plus

GeneCards Summary for ITM2C Gene:
ITM2C (integral membrane protein 2C) is a protein-coding gene. Diseases associated with ITM2C include anemia of prematurity, and cerebritis. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is ITM2B.

UniProtKB/Swiss-Prot: ITM2C_HUMAN, Q9NQX7
Function: Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its
access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible,
suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and
neuronal differentiation (By similarity)

Gene Wiki entry for ITM2C 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITM2C gene promoter:
         Spz1   Sp1   AP-1   SREBP-1c   MyoD   Tal-1beta   SREBP-1b   Arnt   SREBP-1a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITM2C promoter sequence
   Search Chromatin IP Primers for ITM2C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITM2C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37

ITM2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITM2C gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P231729:  view genomic region     (about GC identifiers)

Start:
231,729,354 bp from pter      End:
231,743,963 bp from pter
Size:
14,610 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ITM2C_HUMAN, Q9NQX7 (See protein sequence)
Recommended Name: Integral membrane protein 2C  
Size: 267 amino acids; 30224 Da
Subunit: Interacts with BACE1. Interacts with APP. Interacts with STMN2
Secondary accessions: B3KPG4 Q4G0A8 Q53H84 Q6IAE7 Q86VK5 Q8N288 Q8TAW0 Q9BUP8
Alternative splicing: 3 isoforms:  Q9NQX7-1   Q9NQX7-2   Q9NQX7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ITM2C: NX_Q9NQX7

Explore proteomics data for ITM2C at MOPED

Post-translational modifications: 

  • Type I membrane-bound, as well as soluble, furin has a pre-eminent role in ITM2C proteolytic processing. PCSK7 and
    PCSK5 may also be involved although to a lesser extent. The soluble form of PCSK7 is incapable of processing
    ITM2C. Fails to undergo shedding by ADAM10 and intramembanaire cleavage by SPPL2B1
  • Ubiquitination2 at Lys3, Lys14, Lys20, Lys187
  • Glycosylation2 at Asn169
  • Modification sites at PhosphoSitePlus

  • See ITM2C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001012532.1  NP_001012534.1  NP_001274169.1  NP_001274170.1  NP_112188.1  

    ENSEMBL proteins: 
     ENSP00000390655   ENSP00000440295   ENSP00000322730   ENSP00000335121   ENSP00000322100  
     ENSP00000444899   ENSP00000387242   ENSP00000403257  

    ITM2C Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ITM2C
    OriGene Protein Over-expression Lysate for ITM2C
    OriGene MassSpec for ITM2C
    OriGene Custom Protein Services for ITM2C
    GenScript Custom Purified and Recombinant Proteins Services for ITM2C
    Novus Biologicals ITM2C Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITM2C

    ITM2C Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ITM2C
    OriGene Antibodies for ITM2C
    OriGene Custom Antibody Services for ITM2C
    Novus Biologicals ITM2C Antibodies
    Abcam antibodies for ITM2C
    Cloud-Clone Corp. Antibodies for ITM2C
    ThermoFisher Antibody for ITM2C
    LSBio Antibodies in human, mouse, rat for ITM2C

    ITM2C Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ITM2C
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ITM2C
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITM2C
    Cloud-Clone Corp. CLIAs for ITM2C


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    BRICD: BRICHOS domain containing

    1 InterPro protein domain:
     IPR007084 BRICHOS_dom

    Graphical View of Domain Structure for InterPro Entry Q9NQX7

    ProtoNet protein and cluster: Q9NQX7

    1 Blocks protein domain: IPB007084 BRICHOS domain

    UniProtKB/Swiss-Prot: ITM2C_HUMAN, Q9NQX7
    Similarity: Belongs to the ITM2 family
    Similarity: Contains 1 BRICHOS domain


    ITM2C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITM2C_HUMAN, Q9NQX7
    Function: Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its
    access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible,
    suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and
    neuronal differentiation (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IPI19849849
    GO:0005515protein binding IPI18452648
    GO:0005524ATP binding IEA--
         
    ITM2C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ITM2C:
     Decreased nuclei size in G2M 

         1 MGI phenotypic allele for Itm2c (no phenotypes)

    ITM2C for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITM2C
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITM2C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITM2C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITM2C

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITM2C:
    hsa-mir-324-5p (MIRT043113), hsa-mir-877-3p (MIRT036807), hsa-mir-103a-3p (MIRT027070), hsa-mir-18a-3p (MIRT040849)

    Block miRNA regulation of human, mouse, rat ITM2C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITM2C (see all 27):
    hsa-miR-4291 hsa-miR-4311 hsa-miR-1321 hsa-miR-539 hsa-miR-300 hsa-miR-520d-5p hsa-miR-3660 hsa-miR-218-1*
    SwitchGear 3'UTR luciferase reporter plasmidITM2C 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITM2C
    Predesigned siRNA for gene silencing in human, mouse, rat ITM2C

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ITM2C

    Clone
    Products:
         
    OriGene clones in human, mouse for ITM2C (see all 18)
    OriGene ORF clones in mouse, rat for ITM2C
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ITM2C (NM_030926)
    Sino Biological Human cDNA Clone for ITM2C
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITM2C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITM2C

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ITM2C
    Browse ESI BIO Cell Lines and PureStem Progenitors for ITM2C 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2C


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ITM2C_HUMAN, Q9NQX7: Lysosome membrane; Single-pass type II membrane protein (By similarity). Cell membrane;
    Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    plasma membrane5
    vacuole5
    golgi apparatus4
    cytosol2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ISS--
    GO:0005765lysosomal membrane IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane IDA19114711
    GO:0016021integral component of membrane IEA--

    ITM2C for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ITM2C
    Interactions:

        Search GeneGlobe Interaction Network for ITM2C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for ITM2C (Q9NQX72, 3 ENSP000003227304) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF7Q9UBF63, ENSP000002734804I2D: score=4 STRING: ENSP00000273480
    BACE1P568173, ENSP000003185854I2D: score=2 STRING: ENSP00000318585
    MTNR1BP492863, ENSP000002570684I2D: score=2 STRING: ENSP00000257068
    FURINP099583, ENSP000002681714I2D: score=1 STRING: ENSP00000268171
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010977negative regulation of neuron projection development IDA18452648
    GO:0030182neuron differentiation ISS--
    GO:2001238positive regulation of extrinsic apoptotic signaling pathway IEA--

    ITM2C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITM2C



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ITM2C gene (5 alternative transcripts): 
    NM_001012514.2  NM_001012516.2  NM_001287240.1  NM_001287241.1  NM_030926.5  

    Unigene Cluster for ITM2C:

    Integral membrane protein 2C
    Hs.111577  [show with all ESTs]
    Unigene Representative Sequence: NM_030926
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000457215 ENST00000541852 ENST00000326427(uc002vqz.3 uc002vra.3 uc002vrb.3)
    ENST00000335005(uc002vrc.3) ENST00000326407(uc002vrd.3) ENST00000543957
    ENST00000409704 ENST00000418408 ENST00000492029

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ITM2C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITM2C (see all 27):
    hsa-miR-4291 hsa-miR-4311 hsa-miR-1321 hsa-miR-539 hsa-miR-300 hsa-miR-520d-5p hsa-miR-3660 hsa-miR-218-1*
    SwitchGear 3'UTR luciferase reporter plasmidITM2C 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ITM2C
    Predesigned siRNA for gene silencing in human, mouse, rat ITM2C
    Clone
    Products:
         
    OriGene clones in human, mouse for ITM2C (see all 18)
    OriGene ORF clones in mouse, rat for ITM2C
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ITM2C (NM_030926)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITM2C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITM2C
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ITM2C
    OriGene qSTAR qPCR primer pairs in human, mouse for ITM2C
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITM2C
      QuantiTect SYBR Green Assays in human, mouse, rat ITM2C
      QuantiFast Probe-based Assays in human, mouse, rat ITM2C

    Additional mRNA sequence: 

    AB003629.1 AF271781.1 AF272043.1 AK056321.1 AK075361.1 AK090975.1 AK222697.1 AK295503.1 
    AK303199.1 AK307702.1 AL136603.1 AL713651.1 AY049777.1 BC002424.1 BC025742.1 BC050668.1 
    BC098563.1 CR457208.1 D87062.1 

    Selected DOTS entries (see all 33):

    DT.100679059  DT.100679057  DT.87017388  DT.100679055  DT.121003813  DT.100679056  DT.95121925  DT.92390033 
    DT.102835676  DT.97799430  DT.95323346  DT.100862614  DT.100865245  DT.100868461  DT.100868474  DT.121003826 
    DT.100870988  DT.121003780  DT.121003824  DT.121003834  DT.100676513  DT.100679067  DT.100683566  DT.100856823 

    Selected AceView cDNA sequences (see all 676):

    CR613799 BQ671857 CA412067 AI204409 CD171996 BF981426 CA412084 CR600331 
    AI207787 D87062 BI909290 BQ434277 W57810 AA351343 AA985619 CR600725 
    BM773005 BM750327 AK075361 BM740080 BM739611 CD172234 CR603208 BX336665 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ITM2C    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8
    SP1:              -                                             
    SP2:        -     -                                             
    SP3:              -           -                                 
    SP4:                          -                                 
    SP5:                                                            


    ECgene alternative splicing isoforms for ITM2C

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ITM2C expression in normal human tissues (normalized intensities)      ITM2C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTACTGA
    ITM2C Expression
    About this image


    ITM2C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Thymus (Hematopoietic System)
    ITM2C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITM2C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.111577

    UniProtKB/Swiss-Prot: ITM2C_HUMAN, Q9NQX7
    Tissue specificity: High levels in the brain, specifically in the cerebral cortex, medulla, amygdala, hippocampus,
    thalamus, caudate nucleus, cerebellum, olfactory lobe and spinal cord. Very low levels in other organs

        Custom PCR Arrays for ITM2C
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ITM2C
    OriGene qSTAR qPCR primer pairs in human, mouse for ITM2C
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITM2C
    QuantiTect SYBR Green Assays in human, mouse, rat ITM2C
    QuantiFast Probe-based Assays in human, mouse, rat ITM2C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2C

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for ITM2C gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itm2c1 , 5 integral membrane protein 2C1, 5 87.64(n)1
    93.26(a)1
      1 (43.94 cM)5
    642941  NM_022417.31  NP_071862.21 
     858942815 
    chicken
    (Gallus gallus)
    Aves ITM2C1 integral membrane protein 2C 70.88(n)
    68.97(a)
      424831  NM_001277418.1  NP_001264347.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITM2C6
    integral membrane protein 2C
    41(a)
    1 ↔ 1
    3(28240891-28260310)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI446652.12   -- 82.03(n)    BI446652.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj35c022 wufj35c02 75.6(n)   335863  BC054689.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36626
    --
    15(a)
    1 → many
    2L(821422-824337)
    worm
    (Caenorhabditis elegans)
    Secernentea C25F6.76
    Protein C25F6.7, isoform a (C25F6.7) mRNA, complet...
    17(a)
    1 → many
    X(5445161-5448030) WBGene00016106


    ENSEMBL Gene Tree for ITM2C (if available)
    TreeFam Gene Tree for ITM2C (if available)

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

    TryGeneCards Plus
    Paralogs for ITM2C gene
    ITM2B2  ITM2A2  
    2 SIMAP similar genes for ITM2C using alignment to 5 protein entries:     ITM2C_HUMAN (see all proteins):
    ITM2B    ITM2A

    ITM2C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ITM2C (see all 445)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1871196321,2
    --231727762(+) TAGGAA/GTCACT 3 -- us2k10--------
    rs1438152081,2
    C--231727789(+) CCAGCA/CCTTGG 3 -- us2k10--------
    rs29180091,2
    C,F,H--231727806(+) TTGAGC/TCCATG 3 -- us2k124Minor allele frequency- T:0.19NS EA NA WA CSA 2353
    rs29180101,2
    C,F--231727818(+) TCAAGG/CGTAAG 3 -- us2k113Minor allele frequency- C:0.20NA WA CSA EA 377
    rs1915529771,2
    --231728055(+) CTAATA/GTGTAG 3 -- us2k10--------
    rs1996190691,2
    C--231728074(+) GGCTGG/TGATGA 3 -- us2k10--------
    rs1458066041,2
    --231728087(+) ATTAAA/GTAATT 3 -- us2k10--------
    rs1836939141,2
    --231728139(+) GACCAC/TATCCT 3 -- us2k10--------
    rs1877509301,2
    --231728182(+) TTTCTA/GCCACA 3 -- us2k10--------
    rs1490149611,2
    --231728240(+) GTGAAA/GGAATG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for ITM2C (231729354 - 231743963 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ITM2C:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470522CNV Loss18288195
    nsv834565CNV Gain17160897

    Human Gene Mutation Database (HGMD): ITM2C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITM2C
    DNA2.0 Custom Variant and Variant Library Synthesis for ITM2C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 609554    OMIM disorders: --

    6 diseases for ITM2C:    About MalaCards
    anemia of prematurity    cerebritis    dementia    influenza
    hypertension    neuronitis


    ITM2C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): ITM2C
    Human Genome Epidemiology (HuGE) Navigator: ITM2C (2 documents)

    Export disorders for ITM2C gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for ITM2C gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with ITM2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    3. Substrate requirements for SPPL2b-dependent regulated intramembrane proteolysis. (PubMed id 19114711)1, 2 Martin L.... Haass C. (J. Biol. Chem. 2009)
    4. BRI3 inhibits amyloid precursor protein processing in a mechanistically distinct manner from its homologue dementia gene BRI2. (PubMed id 19366692)1, 2 Matsuda S.... D'Adamio L. (J. Biol. Chem. 2009)
    5. BRI3 associates with SCG10 and attenuates NGF-induced neurite outgrowth in PC12 cells. (PubMed id 18452648)1, 2 Gong Y....Yuan J. (BMB Rep. 2008)
    6. Beta-amyloid protein converting enzyme 1 and brain-specific type II membrane protein BRI3: binding partners processed by furin. (PubMed id 15606899)1, 2 Wickham L.... Seidah N.G. (J. Neurochem. 2005)
    7. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 2004)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 81618 HGNC: 6175 AceView: ITM2C Ensembl:ENSG00000135916 euGenes: HUgn81618
    ECgene: ITM2C H-InvDB: ITM2C

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ITM2C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ITM2C gene:
    Search GeneIP for patents involving ITM2C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for ITM2C (ITM2C)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ITM2C   OriGene RNAi products in human, mouse, rat for ITM2C  
     OriGene qPCR primer pairs and template standards for ITM2C   OriGene Protein Over-expression Lysate for ITM2C  
     OriGene MassSpec something-or-other for ITM2C   OriGene clones in human, mouse for ITM2C  
     OriGene qSTAR qPCR primer pairs in human, mouse for ITM2C   OriGene Purified Protein for ITM2C  
     OriGene ORF clones in mouse, rat for ITM2C   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ITM2C   OriGene Custom Protein Services for ITM2C  

     
     
     Block miRNA regulation of human, mouse, rat ITM2C using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ITM2C
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITM2C Predesigned siRNA for gene silencing in human, mouse, rat ITM2C
     QuantiFast Probe-based Assays in human, mouse, rat ITM2C QuantiTect SYBR Green Assays in human, mouse, rat ITM2C
     Custom PCR Arrays for ITM2C Search Chromatin IP Primers for ITM2C
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITM2C  Search GeneGlobe Interaction Network for ITM2C
     Regulatory tfbs in ITM2C promoter
     GenScript Custom Purified and Recombinant Proteins Services for ITM2C GenScript cDNA clones with any tag delivered in your preferred vector for ITM2C
     GenScript Custom Assay Services for ITM2C GenScript Custom overexpressing Cell Line Services for ITM2C
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ITM2C
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ITM2C
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ITM2C antibodies
     ITM2C lysates
     Antibodies for ITM2C
     See all of Abcam's Antibodies, Kits and Proteins for ITM2C
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ITM2C
     Antibodies for ITM2C
     ELISAs for ITM2C
     CLIAs for ITM2C



     Browse ESI BIO Cell Lines and PureStem Progenitors for ITM2C
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2C
     SwitchGear 3'UTR luciferase reporter plasmids for ITM2C
     SwitchGear Promoter luciferase reporter plasmids for ITM2C
     ThermoFisher Antibody for ITM2C
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITM2C
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITM2C
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITM2C
     LSBio Antibodies in human, mouse, rat for ITM2C
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ITM2C gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4