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

RPH3A Gene

protein-coding   GIFtS: 59
GCID: GC12P113012

Rabphilin 3A Homolog (Mouse)

  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

Aliases
Rabphilin 3A Homolog (Mouse)1 2
KIAA09853 5
exophilin-12
rabphilin-3A2
Exophilin-13

External Ids:    HGNC: 170561   Entrez Gene: 228952   Ensembl: ENSG000000891697   OMIM: 6121595   UniProtKB: Q9Y2J03   

Export aliases for RPH3A gene to outside databases

Previous GC identifers: GC12P112124 GC12P112748 GC12P111641 GC12P111627 GC12P111692 GC12P113229 GC12P110241


(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 RPH3A Gene:
Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell
communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and
RPH3A is a RAB3A effector (Lin et al., 2007 (PubMed 17149709)).(supplied by OMIM, Jul 2008)

GeneCards Summary for RPH3A Gene: 
RPH3A (rabphilin 3A homolog (mouse)) is a protein-coding gene. Diseases associated with RPH3A include pheochromocytoma, and huntington's disease. GO annotations related to this gene include Rab GTPase binding and calcium ion binding. An important paralog of this gene is DOC2B.

UniProtKB/Swiss-Prot: RP3A_HUMAN, Q9Y2J0
Function: Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or
synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve
terminal (By similarity)

Gene Wiki entry for RPH3A 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009775.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPH3A gene promoter:
         STAT5B   AML1a   ATF-2   Lmo2   HNF-1A   Roaz   Evi-1   PPAR-alpha   CRE-BP1   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPH3A promoter sequence
   Search SABiosciences Chromatin IP Primers for RPH3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPH3A


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

Entrez Gene cytogenetic band: 12q24.13   Ensembl cytogenetic band:  12q24.13   HGNC cytogenetic band: 12q24.13

RPH3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPH3A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P113012:  view genomic region     (about GC identifiers)

Start:
113,008,184 bp from pter      End:
113,336,686 bp from pter
Size:
328,503 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: RP3A_HUMAN, Q9Y2J0 (See protein sequence)
Recommended Name: Rabphilin-3A  
Size: 694 amino acids; 76872 Da
Subunit: Monomer. Interacts with RAB3A, RAB3B, RAB3C, RAB3D, RAB8A, RAB27A and RAB27B (By similarity)
Subcellular location: Cell junction, synapse (By similarity). Membrane; Peripheral membrane protein (By
similarity)
Sequence caution: Sequence=BAA76829.2; Type=Erroneous initiation;
Secondary accessions: B7Z3C3 Q96AE0
Alternative splicing: 2 isoforms:  Q9Y2J0-1   Q9Y2J0-2   

Explore the universe of human proteins at neXtProt for RPH3A: NX_Q9Y2J0

Explore proteomics data for RPH3A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2J0

  • RPH3A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RPH3A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001137326.1  NP_055769.2  

    ENSEMBL proteins: 
     ENSP00000446789   ENSP00000446570   ENSP00000449705   ENSP00000440384   ENSP00000446780  
     ENSP00000447639   ENSP00000447306   ENSP00000446556   ENSP00000450382   ENSP00000449613  
     ENSP00000447505   ENSP00000449650   ENSP00000374036   ENSP00000448100   ENSP00000447083  
     ENSP00000448297   ENSP00000405357   ENSP00000450216   ENSP00000450347   ENSP00000448662  
     ENSP00000413254   ENSP00000408889  

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    Cloud-Clone Corp. Proteins for RPH3A 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008021synaptic vesicle IEA--
    GO:0016020membrane IEA--
    GO:0030054cell junction IEA--

    RPH3A for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for RPH3A 
    Cloud-Clone Corp. CLIAs for RPH3A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR003315 Rabphilin3A_effector_Zn-bd
     IPR001565 Synaptotagmin
     IPR017455 Znf_FYVE-rel
     IPR018029 C2_membr_targeting

    Graphical View of Domain Structure for InterPro Entry Q9Y2J0

    ProtoNet protein and cluster: Q9Y2J0

    4 Blocks protein domains:
    IPB000008 C2 domain
    IPB000306 Zn-finger
    IPB001565 Synaptotagmin signature
    IPB003315 Rabphilin-3A effector


    UniProtKB/Swiss-Prot: RP3A_HUMAN, Q9Y2J0
    Domain: Binds calcium via the C2 domains. The calcium-bound C2 domains mediate interactions with phospholipid
    bilayers (By similarity)
    Similarity: Contains 2 C2 domains
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 RabBD (Rab-binding) domain


    RPH3A 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: RP3A_HUMAN, Q9Y2J0
    Function: Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or
    synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve
    terminal (By similarity)

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005509calcium ion binding ISS--
    GO:0005515protein binding IPI11377421
    GO:0005544calcium-dependent phospholipid binding ISS--
    GO:0008270zinc ion binding ----
         
    RPH3A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RPH3A:
     Decreased Wnt reporter activit  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rph3a):
     normal 

    RPH3A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rph3atm1Sud for RPH3A

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RPH3A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RPH3A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPH3A 
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    SwitchGear 3'UTR luciferase reporter plasmidRPH3A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPH3A


    (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 RPH3A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Deregulation of Rab and Rab Effector Genes in Bladder Cancer
    Deregulation of Rab and Rab Effector Genes in Bladder Cancer


    1 BioSystems Pathway for RPH3A
        Deregulation of Rab and Rab Effector Genes in Bladder Cancer


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPH3A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/19 Interacting proteins for RPH3A (Q9Y2J01, 2, 3 ENSP000004132544) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASKO149361, 2, 3, ENSP000003674084EBI-1216802,EBI-1215506 MINT-14506 MINT-14508 MINT-14507 I2D: score=4 STRING: ENSP00000367408
    RAB3AP203363, ENSP000002222564I2D: score=8 STRING: ENSP00000222256
    GCH1P307933, ENSP000003788904I2D: score=2 STRING: ENSP00000378890
    RAB15P591903, ENSP000002675124I2D: score=2 STRING: ENSP00000267512
    RAB27BO001943, ENSP000002620944I2D: score=2 STRING: ENSP00000262094
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--

    RPH3A 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

    RPH3A for compounds           About GeneDecksing

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

    Browse Tocris compounds for RPH3A (RP3A)

    10 Novoseek inferred chemical compound relationships for RPH3A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 65.5 15 7926025 (4), 10025402 (1), 7802677 (1), 8886977 (1) (see all 9)
    phospholipid 47.1 16 8262955 (5), 8226731 (2), 7826360 (1), 8605005 (1) (see all 9)
    gdp 44.5 3 7926025 (2), 7945346 (1)
    phosphatidylserine 30.2 2 7999065 (2)
    calcium 19 11 8226731 (2), 7999065 (2), 7826360 (1), 9425005 (1) (see all 7)
    forskolin 10.3 1 9425005 (1)
    magnesium 0 2 10025402 (1), 9163333 (1)
    lipid 0 4 8554624 (3)
    zinc 0 2 8756657 (1), 10504306 (1)
    tyrosine 0 1 17223267 (1)

    Search CenterWatch for drugs/clinical trials and news about RPH3A / RP3A

    (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 RPH3A gene (2 alternative transcripts): 
    NM_001143854.1  NM_014954.3  

    Unigene Cluster for RPH3A:

    Rabphilin 3A homolog (mouse)
    Hs.21239  [show with all ESTs]
    Unigene Representative Sequence: BX647281
    18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000549736 ENST00000548197 ENST00000547686 ENST00000543106(uc009zwe.1)
    ENST00000551593 ENST00000546426 ENST00000551748 ENST00000546703 ENST00000547840
    ENST00000547728 ENST00000549769 ENST00000552667 ENST00000389385(uc001ttz.3 uc001tty.3)
    ENST00000550901 ENST00000551198 ENST00000551052 ENST00000415485(uc010syl.2 uc010sym.2)
    ENST00000552679
    miRNA
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    hsa-miR-1271 hsa-miR-501-3p hsa-miR-221 hsa-miR-502-3p hsa-miR-3155b hsa-miR-96 hsa-miR-3144-5p hsa-miR-4300
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB023202.1 AK295696.1 AK296296.1 AK316112.1 BC002605.2 BC009843.2 BC017259.2 BX647281.1 

    14 DOTS entries:

    DT.114969  DT.101978125  DT.121209975  DT.121209973  DT.95163994  DT.121210006  DT.121209977  DT.121209979 
    DT.121209981  DT.121209989  DT.121209994  DT.121209998  DT.91837231  DT.95316924 

    24/89 AceView cDNA sequences (see all 89):

    AI421373 BM716888 BC009843 N54215 AA338374 AW207073 CR613722 BX375754 
    BU738474 AA338373 AB023202 BC002605 BE857186 BX647281 AA976078 AA325807 
    BC017259 NM_014954 AA325143 BI666881 H41541 AA663569 H41422 BI756895 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RPH3A (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ·
    SP1:              -                             -           -           -                       -     -                                                         
    SP2:                                            -           -           -                       -     -                                                         
    SP3:                                                                                            -     -                                                         
    SP4:              -           -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                 
    SP5:                                                        -           -                                                                                       

    ExUns: 18c ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24
    SP1:                          -                           
    SP2:                          -                           
    SP3:                          -                           
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for RPH3A

    (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

    RPH3A expression in normal human tissues (normalized intensities)      RPH3A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAACCACC
    RPH3A Expression
    About this image


    RPH3A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Thalamus
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

     -- (Endocrine System)
             Pituitary gland   

    See RPH3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPH3A

    SOURCE GeneReport for Unigene cluster: Hs.21239
        SABiosciences Expression via Pathway-Focused PCR Array including RPH3A: 
              Huntington's Disease in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPH3A

    (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 RPH3A gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rph3a1 , 5 rabphilin 3A1, 5 84(n)1
    90.22(a)1
      5 (61.17 cM)5
    198941  NM_011286.21  NP_035416.11 
     1209405025 
    chicken
    (Gallus gallus)
    Aves RPH3A1 rabphilin 3A homolog (mouse) 73.15(n)
    76.62(a)
      416886  XM_415177.3  XP_415177.3 
    lizard
    (Anolis carolinensis)
    Reptilia RPH3A6
    rabphilin 3A homolog (mouse)
    71(a)
    1 ↔ 1
    GL343282.1(365272-409492)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ638931.12   -- 80.86(n)    BJ638931.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rph3ab1 rabphilin 3A homolog (mouse), b 66.96(n)
    70.42(a)
      563377  XM_686740.4  XP_691832.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta rabphilin-3A3
    Rph1
    synaptic vesicle endocytosis protein
    transporter3
    Rabphilin1
    39(a)3
    50.42(n)1
    40.44(a)1
      320021  NM_132423.21  NP_572651.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rbf-11 Protein RBF-1 50.91(n)
    44.41(a)
      175943  NM_001027396.2  NP_001022567.1 


    ENSEMBL Gene Tree for RPH3A (if available)
    TreeFam Gene Tree for RPH3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPH3A gene
    DOC2B2  SYT42  SYT52  SYT92  SYT82  SYT102  SYT32  SYT62  
    SYT172  SYT112  SYT122  SYT22  DOC2A2  SYT72  SYT12  
    18/21 SIMAP similar genes for RPH3A using alignment to 20 protein entries:     RP3A_HUMAN (see all proteins) (see all similar genes):
    DOC2A    RPH3AL    DOC2B    PRKCG    PRKCA    SYT7
    SYT1    CHR11SYT    PRKCB    SYT6    SYT10    RIMS2
    SYT2    SYTL4    SYT4    LOC392742    SYTL2    SYT11

    RPH3A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RPH3A
    PGOHUM00000261113


    (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

    10/2204 SNPs in RPH3A are shown (see all 2204)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1394371231,2
    C,Funtested1113328677(+) GACATC/TGAGGA 4 I syn11Minor allele frequency- T:0.02NA 4548
    rs128177261,2
    H--113227551(+) tcaacA/Cccatc 2 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs1886222111,2
    --113227591(+) GATGAA/CAATTA 2 -- us2k10--------
    rs110664141,2
    A,H--113227597(+) aattaC/Ttacca 2 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs128171831,2
    H--113227621(+) caccaC/TTgagg 2 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs1129303731,2
    C,F--113227631(+) GCAGGT/AGGTTC 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1506664211,2
    --113227646(+) GAGGCA/GAGGAG 2 -- us2k10--------
    rs1858914241,2
    --113227805(+) GTTTCA/GGTGAG 2 -- us2k10--------
    rs571563031,2
    C,F--113227828(+) CACTGT/CGCTCC 2 -- us2k12Minor allele frequency- C:0.33WA CSA 3
    rs1919264851,2
    --113227913(+) TTGGAC/GTGTAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RPH3A (113008184 - 113258184 bp, first 250kb of RPH3A)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RPH3A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2746377CNV Deletion23290073
    esv2673292CNV Deletion23128226
    esv987835CNV Insertion20482838
    nsv832516CNV Gain17160897
    nsv832515CNV Gain17160897
    esv275176CNV Gain+Loss21479260

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612159    OMIM disorders: --

    4 diseases for RPH3A:    About MalaCards
    pheochromocytoma    huntington's disease    adenocarcinoma    neuronitis


    RPH3A for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for RPH3A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 5.4 1 18854424 (1)

    Genetic Association Database (GAD): RPH3A
    Human Genome Epidemiology (HuGE) Navigator: RPH3A (1 document)

    Export disorders for RPH3A 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 RPH3A gene, integrated from 9 sources (see all 86):
    (articles sorted by number of sources associating them with RPH3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (1999)
    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. Cloning of a mouse Rabphilin-3A expressed in hormone-secreting cells. (PubMed id 7822236)1, 3 Inagaki N....Seino S. (1994)
    4. Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PubMed id 12578829)1, 9 Fukuda M. (2003)
    5. Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease. (PubMed id 15207266)1, 9 Dalfo E....Ferrer I. (2004)
    6. Structural basis of Rab effector specificity: crystal structure of the small G protein Rab3A complexed with the effector domain of rabphilin-3A. (PubMed id 10025402)1, 9 Ostermeier C. and Brunger A.T. (1999)
    7. Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease. (PubMed id 17877635)1, 9 Smith R....Li J.Y. (2007)
    8. Glomerular podocytes possess the synaptic vesicle molecule Rab3A and its specific effector rabphilin-3a. (PubMed id 12937130)1, 9 Rastaldi M.P....D'Amico G. (2003)
    9. Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin. (PubMed id 8901523)1, 9 Perin M.S. (1996)
    10. Identification as beta-adducin of a protein interacting with rabphilin-3A in the presence of Ca2+ and phosphatidylserine. (PubMed id 7999065)1, 9 Miyazaki M....Takai Y. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 22895 HGNC: 17056 AceView: RPH3A Ensembl:ENSG00000089169 euGenes: HUgn22895
    ECgene: RPH3A H-InvDB: RPH3A

    (According to HUGE)
    About This Section
    HUGE: KIAA0985

    (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 RPH3A 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 RPH3A gene:
    Search GeneIP for patents involving RPH3A

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



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    About This Section

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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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