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

RFTN2 Gene

protein-coding   GIFtS: 42
GCID: GC02M198435

Raftlin Family Member 2

(Previous name: chromosome 2 open reading frame 11)
(Previous symbol: C2orf11)
  Search for RFTN2
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

Aliases
Raftlin Family Member 21 2
C2orf111 2 3
Raft-Linking Protein 22 3
Chromosome 2 Open Reading Frame 111
Raftlin-22
raftlin-22

External Ids:    HGNC: 264021   Entrez Gene: 1301322   Ensembl: ENSG000001629447   UniProtKB: Q52LD83   

Export aliases for RFTN2 gene to outside databases

Previous GC identifers: GC02M198144 GC02M190287


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

GeneCards Summary for RFTN2 Gene: 
RFTN2 (raftlin family member 2) is a protein-coding gene. An important paralog of this gene is RFTN1.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RFTN2 gene promoter:
         FOXF2   FOXD1   Nkx2-5   FOXL1   NF-AT   NF-AT4   NF-AT2   FOXC1   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFTN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RFTN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFTN2


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

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

RFTN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFTN2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M198435:  view genomic region     (about GC identifiers)

Start:
198,435,524 bp from pter      End:
198,540,769 bp from pter
Size:
105,246 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RFTN2_HUMAN, Q52LD8 (See protein sequence)
Recommended Name: Raftlin-2  
Size: 501 amino acids; 55922 Da
Subcellular location: Cell membrane; Lipid-anchor (By similarity)
Secondary accessions: Q14DH4 Q2TA69 Q53QE0 Q53SE1 Q96NM3

Explore the universe of human proteins at neXtProt for RFTN2: NX_Q52LD8

Explore proteomics data for RFTN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q52LD8

  • RFTN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RFTN2 Protein Expression
    REFSEQ proteins: NP_653230.2  
    ENSEMBL proteins: 
     ENSP00000295049   ENSP00000387459   ENSP00000398128  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--

    RFTN2 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q52LD8

    UniProtKB/Swiss-Prot: RFTN2_HUMAN, Q52LD8
    Similarity: Belongs to the raftlin family


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RFTN2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 RFTN2

    Search CenterWatch for drugs/clinical trials and news about RFTN2

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RFTN2 gene: 
    NM_144629.2  

    Unigene Cluster for RFTN2:

    Raftlin family member 2
    Hs.591615  [show with all ESTs]
    Unigene Representative Sequence: BC111069
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295049(uc002uuo.4) ENST00000494346 ENST00000454447 ENST00000429081

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    hsa-miR-30c hsa-miR-875-3p hsa-miR-4251 hsa-miR-181c hsa-miR-146a hsa-miR-30d hsa-miR-30a hsa-miR-146b-5p
    SwitchGear 3'UTR luciferase reporter plasmidRFTN2 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFTN2
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    Additional mRNA sequence: 

    AK055136.1 AK090941.1 BC039690.1 BC093966.1 BC111069.1 BC113361.1 BX647618.1 

    3 DOTS entries:

    DT.40203129  DT.40269976  DT.92419655 

    24/40 AceView cDNA sequences (see all 40):

    AA382640 AV709198 BX108193 AI149843 AA448720 BI490922 AV709477 BX451958 
    BI559742 R82200 BI495218 CK005093 BI772721 BX647618 AI126475 AV727858 
    AK090941 AW592576 H84568 R82253 AI206317 BI769216 BI495217 AV727504 

    GeneLoc Exon Structure


    (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

    RFTN2 expression in normal human tissues (normalized intensities)      RFTN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACCAACCC
    RFTN2 Expression
    About this image


    RFTN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Human Brain Vascular Pericyte (HBVP)   
             postcentral gyrus   
     
     Uncategorized (Uncategorized)    fully expand to see all 3 entries
             PureStem Progenitor EN7
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor

    See RFTN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RFTN2

    SOURCE GeneReport for Unigene cluster: Hs.591615
        SABiosciences Custom PCR Arrays for RFTN2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFTN2

    (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 chordates.

    Orthologs for RFTN2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rftn21 , 5 raftlin family member 21, 5 80.6(n)1
    79.8(a)1
      1 (28.05 cM)5
    740131  NM_028713.11  NP_082989.11 
     551701595 
    chicken
    (Gallus gallus)
    Aves RFTN21 raftlin family member 2 74.56(n)
    71.46(a)
      424062  XM_421918.3  XP_421918.2 
    lizard
    (Anolis carolinensis)
    Reptilia RFTN26
    Uncharacterized protein
    64(a)
    1 ↔ 1
    GL343436.1(602067-648101)
    zebrafish
    (Danio rerio)
    Actinopterygii BC051615.12   -- 73.97(n)    BC051615.1 


    ENSEMBL Gene Tree for RFTN2 (if available)
    TreeFam Gene Tree for RFTN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RFTN2 gene
    RFTN12  
    1 SIMAP similar gene for RFTN2 using alignment to 3 protein entries:     RFTN2_HUMAN (see all proteins):
    RFTN1

    RFTN2 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) 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

    10/1826 SNPs in RFTN2 are shown (see all 1826)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1907988991,2
    --198435040(+) ACTTCC/TGGATG 1 -- int10--------
    rs1417620981,2
    --198435087(+) ATTAAC/TGGAGA 1 -- int10--------
    rs1156894041,2
    C,F--198435110(+) AGATAC/AACTAT 1 -- int11Minor allele frequency- A:0.12WA 118
    rs1839006441,2
    --198435190(+) GCTCAC/TGCCTG 1 -- int10--------
    rs1888422951,2
    --198435193(+) CACGCC/TTGTAA 1 -- int10--------
    rs116949131,2
    C,H--198435280(+) ACCCCG/ATCTCT 1 -- int13Minor allele frequency- A:0.17NA 6
    rs1161855571,2
    F--198435320(+) GTGGCG/ACACAC 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1930580611,2
    --198435368(+) AGAATC/TGCTTG 1 -- int10--------
    rs134054041,2
    C--198435449(+) actccA/Gtctca 1 -- int10--------
    rs1876417591,2
    --198435594(+) TATAAC/TAGGCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RFTN2 (198435524 - 198540769 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RFTN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3098CNV Insertion18451855

    SABiosciences Cancer Mutation PCR Assays
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    (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

    RFTN2 for disorders           About MalaCards

    RFTN2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RFTN2

    Export disorders for RFTN2 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

    PubMed articles for RFTN2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RFTN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 130132 HGNC: 26402 AceView: C2orf11 Ensembl:ENSG00000162944 euGenes: HUgn130132
    ECgene: RFTN2 H-InvDB: RFTN2

    (According to HUGE)
    About This Section
      --

    (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 RFTN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RFTN2 gene:
    Search GeneIP for patents involving RFTN2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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 


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