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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C2orf88 Gene

protein-coding   GIFtS: 46
GCID: GC02P190710

chromosome 2 open reading frame 88
 Explore 2 diseases affiliated with
C2orf88 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C2orf88    

Aliases
for C2orf88 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 2 Open Reading Frame 881 2
Small Membrane AKAP2 3
SmAKAP1
MGC130571
Small A-Kinase Anchoring Protein2
Uncharacterized Protein FLJ906872

External Ids:    HGNC: 281911   Entrez Gene: 842812   Ensembl: ENSG000001876997   UniProtKB: Q9BSF03   

Export aliases for C2orf88 gene to outside databases

Previous GC identifer: GC02P182862


Summaries
for C2orf88 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: SMAKA_HUMAN, Q9BSF0
Function: Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma
membrane




Genomic Views
for C2orf88 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf88 gene promoter:
         Bach1   POU2F1   POU2F1a   Nkx2-5   HNF-3beta   GATA-1   Evi-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf88

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf88


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

Entrez Gene cytogenetic band: 2q32.2   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q32.2

C2orf88 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf88 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P190710:  view genomic region     (about GC identifiers)

Start:
 190,744,335 bp from pter      End:
 191,068,210 bp from pter
Size:
 323,876 bases      Orientation:
 plus strand

Proteins
for C2orf88 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SMAKA_HUMAN, Q9BSF0 (See protein sequence)
Recommended Name: Small membrane A-kinase anchor protein  
Size: 95 amino acids; 10970 Da
Subunit: Interacts with PRKAR1A and PRKAR1B
Subcellular location: Cell membrane. Note=The GFP-tagged protein has been detected at the plasma membrane, enriched in
filopodia and cell-cell junctions (PubMed:23115245)
Secondary accessions: D3DPI3 Q53TC7

Explore the universe of human proteins at neXtProt for C2orf88: NX_Q9BSF0

Post-translational modifications:

  • May be palmitoylated at Cys-31
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BSF0

    • C2orf88 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001035984.1  NP_001035985.1  NP_001035986.1  NP_115697.2  

    ENSEMBL proteins: 
     ENSP00000394370   ENSP00000380172   ENSP00000386976   ENSP00000386649   ENSP00000345107  
     ENSP00000405225  

    Human Recombinant Protein Products: 
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    OriGene Purified Proteins (see all 2): C2orf88
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    Novus Biologicals C2orf88 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C2orf88

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane IEA--


    C2orf88 for ontologies           About GeneDecksing



    C2orf88 Antibody Products: 
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    Uscn ELISAs and CLIAs for C2orf88

    Protein Domains /
    Families
    for C2orf88 gene

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

    ProtoNet protein and cluster: Q9BSF0

    UniProtKB/Swiss-Prot: SMAKA_HUMAN, Q9BSF0
    Similarity: Belongs to the small membrane AKAP family


    Function
    for C2orf88 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SMAKA_HUMAN, Q9BSF0
    Function: Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma
    membrane

    miRNA
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    8/69 QIAGEN miScript miRNA Assays for microRNAs that regulate C2orf88 (see all 69):
    hsa-miR-376b hsa-miR-550a* hsa-miR-3148 hsa-miR-200c* hsa-miR-376a hsa-let-7i hsa-let-7e hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmid: C2orf88 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: C2orf88
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf88 (see all 5)
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf88

    3 GenomeRNAi human phenotypes for C2orf88:
     G0/1 arrest  Increased G1 DNA content  Lamellipodia and high actin ra 


    Pathways & Interactions
    for C2orf88 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf88

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for C2orf88 (Q9BSF02, 3 ENSP000003451074) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAR1AP106442, 3, ENSP000003514104MINT-66479 I2D: score=5 STRING: ENSP00000351410
    ARMC7ENSP000002455434STRING: ENSP00000245543
    BATF2ENSP000003018874STRING: ENSP00000301887
    MYOD1ENSP000002500034STRING: ENSP00000250003
    NFKBIL1ENSP000003653184STRING: ENSP00000365318
    About this table

    Drugs & Compounds
    for C2orf88 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C2orf88
    Search CenterWatch for drugs/clinical trials and news about C2orf88 / SMAKA 

    Transcripts
    for C2orf88 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C2orf88 gene (4 alternative transcripts): 
    NM_001042519.1  NM_001042520.1  NM_001042521.1  NM_032321.2  

    Unigene Cluster for C2orf88:

    Chromosome 2 open reading frame 88
    Hs.389311  [show with all ESTs]
    Unigene Representative Sequence: NM_001042519
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478197 ENST00000495546 ENST00000490033 ENST00000450357 ENST00000396974
    ENST00000409545 ENST00000409870 ENST00000340623(uc002urq.3 uc002urr.3 uc002urs.3 uc002urt.3)
    ENST00000443551

    miRNA
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    8/69 QIAGEN miScript miRNA Assays for microRNAs that regulate C2orf88 (see all 69):
    hsa-miR-376b hsa-miR-550a* hsa-miR-3148 hsa-miR-200c* hsa-miR-376a hsa-let-7i hsa-let-7e hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmid: C2orf88 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C2orf88 (see all 4)
    OriGene shRNA RFP: C2orf88
    OriGene siRNA: C2orf88
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C2orf88
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf88

    Additional cDNA sequence: 

    AK075168.1 AK313395.1 BC005083.1 BX648070.1 

    7 DOTS entries:

    DT.121008356  DT.99998698  DT.95257682  DT.121008401  DT.40127774  DT.309928  DT.91740291 

    24/84 AceView cDNA sequences (see all 84):

    BQ421307 AI872627 AA992272 AA279679 AW237041 AI798497 BM889456 N48498 
    N36606 AI651285 BX090670 BM873795 AI521690 BE645119 AA348109 AA348108 
    AA382603 BX471058 AI492154 BX648070 AW663898 CB216727 BQ719086 N50211 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf88    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b
    SP1:                                          
    SP2:                    -     -               
    SP3:                          -               


    ECgene alternative splicing isoforms for C2orf88

    Expression
    for C2orf88 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C2orf88 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTTCCTTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C2orf88 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryOvigerous CordOvarian Somatic CellsOvary
    PancreasIslets of LangerhansMature Beta CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (A scalable, suspensi...)

    See C2orf88 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf88

    SOURCE GeneReport for Unigene cluster: Hs.389311

    UniProtKB/Swiss-Prot: SMAKA_HUMAN, Q9BSF0
    Tissue specificity: Expressed in heart (at protein level)

        SABiosciences Custom PCR Arrays for C2orf88
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    In Situ
    Assay Products:     
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    Orthologs
    for C2orf88 gene

    (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
    This gene was present in the common ancestor of human and mouse.

    Orthologs for C2orf88 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia 1700019D03Rik1 , 5 RIKEN cDNA 1700019D03 gene1, 5 74.47(n)1
    58.51(a)1    		   1 (26.99 cM)5
    670801  NM_144953.21  NP_659202.11 
     529223245 


    ENSEMBL Gene Tree for C2orf88 (if available)
    TreeFam Gene Tree for C2orf88 (if available) 

    Paralogs
    for C2orf88 gene

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

    Genomic Variants
    for C2orf88 gene

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

    10/1321 NCBI SNPs in C2orf88 are shown (see all 1321)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs109314441,2
    		C,F,A,H,--191000613(+) GGGGCC/ATTCTC 1 -- us2k123Minor allele frequency- A:0.35NS EA NA WA CSA 2234
    rs109314451,2
    		C,F,A,H,--191000646(+) ACTAAA/GGAAAG 1 -- us2k125Minor allele frequency- G:0.47NS EA NA WA CSA 2491
    rs1393967701,2
    		--191000702(+) AAATTG/TGAGAC 1 -- us2k10--------
    rs124706281,2
    		C,F,A,H,--191000778(+) CCGATG/ATATTT 1 -- us2k116Minor allele frequency- A:0.25NS EA NA CSA WA 1265
    rs1433735081,2
    		C,--191000848(+) AATAA-/ATATATG 1 -- us2k10--------
    rs1929697751,2
    		--191000971(+) AATGTC/TAGCTT 1 -- us2k10--------
    rs124706731,2
    		C,F,H,--191001008(+) CTGGCC/TCAGCA 1 -- us2k110Minor allele frequency- T:0.22NS EA NA CSA WA 782
    rs7852251,2
    		C,F,A,H,--191001065(-) CAGTCC/ACCTAG 1 -- us2k113Minor allele frequency- A:0.22NA WA CSA EA 378
    rs1455596791,2
    		--191001072(+) ACTGCC/TTGGCA 1 -- us2k10--------
    rs1851961601,2
    		--191001241(+) TTGGTG/TTCTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C2orf88 (190744335 - 190994335 bp, first 250kb of C2orf88)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for C2orf88
         2 CNVs: 98080 98081
         1 Indel: 60344

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    Disorders / Diseases
    for C2orf88 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    C2orf88 for disorders           About GeneDecksing

    2 diseases for C2orf88:    About MalaCards
    loeys-dietz syndrome    ehlers-danlos syndrome

    1 disease from the University of Copenhagen DISEASES database for C2orf88:
    Loeys-Dietz syndrome

    Export disorders for C2orf88 gene to outside databases

    Publications
    for C2orf88 gene

    (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

    PubMed articles for C2orf88 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2orf88)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A small novel A-kinase anchoring protein (AKAP) that localizes specifically protein kinase A-regulatory subunit I (PKA-RI) to the plasma membrane. (PubMed id 23115245)1, 2 Burgers P.P.... Heck A.J. (2012)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (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 Otsuki T....Isogai T. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    External Searches for C2orf88 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing C2orf88 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84281 HGNC: 28191 AceView: MGC13057 Ensembl:ENSG00000187699 euGenes: HUgn84281
    ECgene: C2orf88 H-InvDB: C2orf88

    Other Databases showing C2orf88 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C2orf88 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C2orf88 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C2orf88 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C2orf88 gene:
    Search GeneIP for patents involving C2orf88

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



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