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

RIN2 Gene

protein-coding   GIFtS: 60
GCID: GC20P019818

Ras And Rab Interactor 2

  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ras And Rab Interactor 21 2     RASSF42 3
Ras Association Domain Family 42 3     MACS2 5
Ras Inhibitor JC2652 3     RAB5 Interacting Protein 22
Ras Interaction/Interference Protein 22 3     RAS Association (RalGDS/AF-6) Domain Containing Protein JC2652

External Ids:    HGNC: 187501   Entrez Gene: 544532   Ensembl: ENSG000001326697   OMIM: 6102225   UniProtKB: Q8WYP33   
ORGUL members:         
NONCODE14:n339591      

Export aliases for RIN2 gene to outside databases

Previous GC identifers: GC20P019858 GC20P019865


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

Entrez Gene summary for RIN2 Gene:
The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein
encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and
functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer
in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly
alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective
tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Jun 2011)

GeneCards Summary for RIN2 Gene: 
RIN2 (Ras and Rab interactor 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with RIN2 include macrocephaly, alopecia, cutis laxa, and scoliosis, and scoliosis, and among its related super-pathways are Development HGF signaling pathway. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity and GTPase activator activity. An important paralog of this gene is RIN1.

UniProtKB/Swiss-Prot: RIN2_HUMAN, Q8WYP3
Function: Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in
endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5
proteins by exchanging bound GDP for free GTP




(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_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RIN2 gene promoter:
         STAT1   FOXF2   STAT5A   Nkx2-5   RelA   FOXC1   HSF2   FOXO4   Cart-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRIN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RIN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIN2


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

Entrez Gene cytogenetic band: 20p11.22   Ensembl cytogenetic band:  20p11.23   HGNC cytogenetic band: 20p11.22

RIN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIN2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P019818:  view genomic region     (about GC identifiers)

Start:
19,867,165 bp from pter      End:
19,983,103 bp from pter
Size:
115,939 bases      Orientation:
plus 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: RIN2_HUMAN, Q8WYP3 (See protein sequence)
Recommended Name: Ras and Rab interactor 2  
Size: 895 amino acids; 100163 Da
Subunit: Homotetramer; probably composed of anti-parallel linkage of two parallel dimers. Interacts with Ras.
Interacts with RAB5B, with a much higher affinity for GTP-bound activated RAB5B. Does not interact with other
members of the Rab family
Subcellular location: Cytoplasm (Probable)
Sequence caution: Sequence=CAB66858.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q00425 Q5TFT8 Q9BQL3 Q9H071
Alternative splicing: 2 isoforms:  Q8WYP3-1   Q8WYP3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RIN2: NX_Q8WYP3

Explore proteomics data for RIN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WYP3

  • RIN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RIN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229510.1  NP_061866.1  

    ENSEMBL proteins: 
     ENSP00000255006   ENSP00000391239  

    Human Recombinant Protein Products for RIN2: 
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    Cloud-Clone Corp. Proteins for RIN2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--

    RIN2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for RIN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR013995 VPS9_subgr
     IPR003123 VPS9
     IPR000159 Ras-assoc
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q8WYP3

    ProtoNet protein and cluster: Q8WYP3

    2 Blocks protein domains:
    IPB000159 RA domain
    IPB003123 Vacuolar sorting protein 9


    UniProtKB/Swiss-Prot: RIN2_HUMAN, Q8WYP3
    Similarity: Belongs to the RIN (Ras interaction/interference) family
    Similarity: Contains 1 Ras-associating domain
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 1 VPS9 domain


    RIN2 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,
    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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIN2_HUMAN, Q8WYP3
    Function: Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in
    endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5
    proteins by exchanging bound GDP for free GTP

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005083small GTPase regulator activity NAS1849280
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0017112Rab guanyl-nucleotide exchange factor activity NAS11733506
         
    RIN2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RIN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RIN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RIN2 
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    hsa-miR-3163 hsa-miR-455-5p hsa-miR-922 hsa-miR-181c hsa-miR-3660 hsa-miR-181a hsa-miR-181d hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidRIN2 3' UTR sequence
    Inhib. RNA
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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

    SuperPaths for RIN2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Development HGF signaling pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)0.31


    1 BioSystems Pathway for RIN2
        Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RIN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for RIN2 (Q8WYP32, 3 ENSP000002550064) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74716 I2D: score=2 STRING: ENSP00000269571
    CDKN2AP427713, ENSP000003551534I2D: score=1 I2D: score=1 STRING: ENSP00000355153
    EGFRP005332, 3, ENSP000002754934MINT-74715 I2D: score=2 STRING: ENSP00000275493
    BIN1O004993, ENSP000003167794I2D: score=2 STRING: ENSP00000316779
    RAB5CP511483, ENSP000003456894I2D: score=1 STRING: ENSP00000345689
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction NAS1849280

    RIN2 for ontologies           About GeneDecksing



    (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 RIN2

    3 HMDB Compounds for RIN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about RIN2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 RIN2 gene (2 alternative transcripts): 
    NM_001242581.1  NM_018993.3  

    Unigene Cluster for RIN2:

    Ras and Rab interactor 2
    Hs.472270  [show with all ESTs]
    Unigene Representative Sequence: NM_001242581
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255006(uc002wro.2 uc010gcu.2 uc010gcv.2) ENST00000459721
    ENST00000467569 ENST00000488077 ENST00000465815 ENST00000484638 ENST00000440354

    miRNA
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    hsa-miR-3163 hsa-miR-455-5p hsa-miR-922 hsa-miR-181c hsa-miR-3660 hsa-miR-181a hsa-miR-181d hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidRIN2 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RIN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIN2
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RIN2

    Additional mRNA sequence: 

    AB060339.1 AK094884.1 AL136924.1 BC034698.1 BC128065.1 M37190.1 

    4 DOTS entries:

    DT.453791  DT.91722574  DT.120836812  DT.40189001 

    24/114 AceView cDNA sequences (see all 114):

    BF195292 M37190 BM550342 NM_018993 CA398188 BP337044 CB127356 BX494478 
    AI370835 AI695804 AI245470 AA932991 AA953394 AA573440 BI759195 AA341201 
    R83224 AA939080 CA430316 AI688712 CA842939 AA424473 CA842793 CR617469 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RIN2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
    SP1:              -                                   -                                       
    SP2:              -                                                                           
    SP3:              -                       -           -                                       
    SP4:                                                                                          


    ECgene alternative splicing isoforms for RIN2

    (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

    RIN2 expression in normal human tissues (normalized intensities)      RIN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGAAAATA
    RIN2 Expression
    About this image


    RIN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Umbilical Cord (Extraembryonic Tissues)
             Wharton's jelly-derived stem cells
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells II Spleen
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen

     -- (Gastrointestinal Tract)
             pharynx   

    See RIN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RIN2

    SOURCE GeneReport for Unigene cluster: Hs.472270

    UniProtKB/Swiss-Prot: RIN2_HUMAN, Q8WYP3
    Tissue specificity: Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in
    skeletal muscle, spleen and peripheral blood

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIN2

    (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 animals.

    Orthologs for RIN2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rin21 , 5 Ras and Rab interactor 21, 5 88.97(n)1
    92.11(a)1
      2 (71.25 cM)5
    740301  NM_028724.41  NP_083000.51 
     1457847345 
    chicken
    (Gallus gallus)
    Aves RIN21 Ras and Rab interactor 2 76.52(n)
    79.68(a)
      421246  XM_419317.3  XP_419317.1 
    lizard
    (Anolis carolinensis)
    Reptilia RIN26
    Uncharacterized protein
    77(a)
    1 ↔ 1
    4(80457274-80500280)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000066221 ras and Rab interactor 2-like 61.88(n)
    61.08(a)
      100006622  XM_001345278.2  XP_001345314.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spri3 RAS interactor 28(a)   9D2   --
    worm
    (Caenorhabditis elegans)
    Secernentea rin-16
    Protein TAG-333, isoform f
    9(a)
    1 → many
    V(14784152-14815600)


    ENSEMBL Gene Tree for RIN2 (if available)
    TreeFam Gene Tree for RIN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RIN2 gene
    RIN12  RINL2  RIN32  
    4 SIMAP similar genes for RIN2 using alignment to 3 protein entries:     RIN2_HUMAN (see all proteins):
    RINL    DKFZp762H1613    RIN3    RIN1

    RIN2 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

    10/2956 SNPs in RIN2 are shown (see all 2956)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2002095711,2
    --19814510(+) TAAAA-/TTTTTT 1 -- us2k10--------
    rs1163895141,2
    F--19814638(+) TGTCTG/ATCCAA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs72739951,2
    C,F,A,H--19814644(+) TCCAAC/TGTGTA 1 -- us2k126Minor allele frequency- T:0.19NS NA EA WA 2568
    rs1171391321,2
    C,F--19814891(+) TTCAGT/ACAATT 1 -- us2k11Minor allele frequency- A:0.07NA 120
    rs751358701,2
    --19815044(+) GAGAAG/TCCAGG 1 -- us2k10--------
    rs1402784921,2
    --19815102(+) ATCCAA/GTATAA 1 -- us2k10--------
    rs48133781,2
    C,F,A,H--19815105(+) CAATAT/GAATTG 1 -- us2k16Minor allele frequency- G:0.19NA WA EA 498
    rs61061481,2
    C,F--19815122(+) CTGCTT/GCTTTT 1 -- us2k12Minor allele frequency- G:0.02WA 120
    rs2003630851,2
    --19815153(+) TAAAG-/TAAA  
            
    TAAAA
    1 -- us2k10--------
    rs48149201,2
    C,F,H--19815256(+) aggaaT/Aaagtc 1 -- us2k1 tfbs3 trp318Minor allele frequency- A:0.13NS EA NA WA CSA 790

    HapMap Linkage Disequilibrium report for RIN2 (19867165 - 19983103 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for RIN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722277CNV Deletion23290073
    nsv3318CNV Insertion18451855
    nsv179259CNV Loss16902084
    nsv180590CNV Loss16902084
    nsv3319CNV Loss18451855
    nsv817888CNV Gain17921354
    esv27878CNV Gain19812545
    nsv833939CNV Gain17160897


    Human Gene Mutation Database (HGMD): RIN2
    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
    OMIM gene information: 610222   
    OMIM disorders: 613075  
    UniProtKB/Swiss-Prot: RIN2_HUMAN, Q8WYP3
  • MACS syndrome (MACS) [MIM:613075]: A complex disorder of elastic tissue characterized by sagging skin and
    occasionally by life-threatening visceral complications. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 6 diseases for RIN2:    About MalaCards
    macrocephaly, alopecia, cutis laxa, and scoliosis    scoliosis    alopecia    gingival hypertrophy
    cutis laxa    gingivitis

    1 disease from the University of Copenhagen DISEASES database for RIN2:
    Cutis laxa

    RIN2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RIN2

    Export disorders for RIN2 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 RIN2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with RIN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5. (PubMed id 11733506)1, 2, 3 Saito K.... Katada T. (2002)
    2. Expression of three mammalian cDNAs that interfere with RAS function in Saccharomyces cerevisiae. (PubMed id 1849280)1, 2, 3 Colicelli J....Wigler M. (1991)
    3. RIN2 deficiency results in macrocephaly, alopecia, cu tis laxa, and scoliosis: MACS syndrome. (PubMed id 19631308)1, 2 Basel-Vanagaite L....Sprecher E. (2009)
    4. Involvement of the Ras-Ras-activated Rab5 guanine nucleotide exchange factor RIN2-Rab5 pathway in the hepatocyte growth factor-induced endocytosis of E-cadherin. (PubMed id 16423831)1, 3 Kimura T....Takai Y. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. 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. (2001)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. The RIN2 syndrome: a new autosomal recessive connecti ve tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). (PubMed id 20424861)1 Syx D....Verloes A. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54453 HGNC: 18750 AceView: RIN2 Ensembl:ENSG00000132669 euGenes: HUgn54453
    ECgene: RIN2 H-InvDB: RIN2

    (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 RIN2 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 RIN2 gene:
    Search GeneIP for patents involving RIN2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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