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PACS2 Gene

protein-coding   GIFtS: 53
GCID: GC14P105767

Phosphofurin Acidic Cluster Sorting Protein 2

(Previous name: phosphofurin acidic cluster sorting protein 1-like)
(Previous symbol: PACS1L)
  Search for PACS2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphofurin Acidic Cluster Sorting Protein 21 2
PACS1L1 2 3
PACS-22 3
PACS1-Like Protein2 3
KIAA06023 5
Phosphofurin Acidic Cluster Sorting Protein 1-Like1

External Ids:    HGNC: 237941   Entrez Gene: 232412   Ensembl: ENSG000001793647   OMIM: 6104235   UniProtKB: Q86VP33   

Export aliases for PACS2 gene to outside databases

Previous GC identifers: GC14P104839 GC14P085962


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PACS2 Gene:
PACS2 (phosphofurin acidic cluster sorting protein 2) is a protein-coding gene. An important paralog of this gene is PACS1.

UniProtKB/Swiss-Prot: PACS2_HUMAN, Q86VP3
Function: Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication,
including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic
inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of
mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death.
May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct
subcellular compartments




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PACS2 gene promoter:
         c-Fos   p53   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPACS2 promoter sequence
   Search Chromatin IP Primers for PACS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PACS2


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

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32

PACS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PACS2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P105767:  view genomic region     (about GC identifiers)

Start:
105,766,900 bp from pter      End:
105,864,484 bp from pter
Size:
97,585 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PACS2_HUMAN, Q86VP3 (See protein sequence)
Recommended Name: Phosphofurin acidic cluster sorting protein 2  
Size: 889 amino acids; 97702 Da
Subunit: Interacts with BID and PKD2. Interacts with HIV-1 Nef
Sequence caution: Sequence=BAA25528.1; Type=Erroneous initiation;
Secondary accessions: A2VDJ9 G8JLK3 O60342 Q6P191 Q96FL7
Alternative splicing: 4 isoforms:  Q86VP3-1   Q86VP3-2   Q86VP3-3   Q86VP3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PACS2: NX_Q86VP3

Explore proteomics data for PACS2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PACS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001094383.2  NP_001230056.1  NP_056012.2  

    ENSEMBL proteins: 
     ENSP00000393524   ENSP00000321834   ENSP00000399732   ENSP00000449525   ENSP00000447229  
     ENSP00000449254   ENSP00000447544   ENSP00000393559  

    PACS2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PACS2
    OriGene Protein Over-expression Lysate for PACS2
    OriGene Custom MassSpec
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    Novus Biologicals PACS2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PACS2

     
    Search eBioscience for Proteins for PACS2 

    PACS2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for PACS2
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    LSBio Antibodies in human, mouse, rat for PACS2

    PACS2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PACS2
    Cloud-Clone Corp. CLIAs for PACS2
    Search eBioscience for ELISAs for PACS2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019381 Phosphofurin_acidic_CS-1

    Graphical View of Domain Structure for InterPro Entry Q86VP3

    ProtoNet protein and cluster: Q86VP3

    UniProtKB/Swiss-Prot: PACS2_HUMAN, Q86VP3
    Similarity: Belongs to the PACS family


    Find genes that share domains with PACS2           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: PACS2_HUMAN, Q86VP3
    Function: Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication,
    including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic
    inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of
    mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death.
    May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct
    subcellular compartments

    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pacs2):

     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism 

    Find genes that share phenotypes with PACS2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PACS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PACS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PACS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PACS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target PACS2:
    hsa-mir-222-3p (MIRT046818), hsa-mir-1 (MIRT023894), hsa-let-7e-5p (MIRT051538)

    Block miRNA regulation of human, mouse, rat PACS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACS2 (see all 33):
    hsa-miR-125a-5p hsa-let-7d hsa-miR-181c hsa-miR-485-3p hsa-let-7c hsa-miR-20b* hsa-let-7g hsa-miR-548g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PACS2
    Predesigned siRNA for gene silencing in human, mouse, rat PACS2

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for PACS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PACS2 (NM_015197)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PACS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PACS2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PACS2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACS2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PACS2_HUMAN, Q86VP3: Endoplasmic reticulum lumen. Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    nucleus3
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum IDA15692563
    GO:0005788endoplasmic reticulum lumen IEA--

    Find genes that share ontologies with PACS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PACS2
    Interactions:

        Search GeneGlobe Interaction Network for PACS2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for PACS2 (Q86VP32, 3 ENSP000003935594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3MINT-3976506 I2D: score=1 
    YWHAZP631042, 3, ENSP000003095034MINT-8008995 I2D: score=1 STRING: ENSP00000309503
    PKD2Q135633, ENSP000002375964I2D: score=2 STRING: ENSP00000237596
    BIDP559573I2D: score=2 
    WDR37ENSP000002631504STRING: ENSP00000263150
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0072661protein targeting to plasma membrane IMP15692563

    Find genes that share ontologies with PACS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PACS2



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PACS2 gene (3 alternative transcripts): 
    NM_001100913.2  NM_001243127.2  NM_015197.3  

    Unigene Cluster for PACS2:

    Phosphofurin acidic cluster sorting protein 2
    Hs.525626  [show with all ESTs]
    Unigene Representative Sequence: NM_001100913
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430725 ENST00000325438 ENST00000458164 ENST00000547217 ENST00000548265
    ENST00000546915 ENST00000552138 ENST00000551692 ENST00000547903 ENST00000551743
    ENST00000549030 ENST00000548796 ENST00000551801 ENST00000550790 ENST00000447393(uc001yqs.2 uc001yqu.3 uc001yqt.3 uc001yqv.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PACS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PACS2 (see all 33):
    hsa-miR-125a-5p hsa-let-7d hsa-miR-181c hsa-miR-485-3p hsa-let-7c hsa-miR-20b* hsa-let-7g hsa-miR-548g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PACS2
    Predesigned siRNA for gene silencing in human, mouse, rat PACS2
    Clone
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    OriGene clones in human, mouse for PACS2 (see all 11)
    OriGene ORF clones in mouse, rat for PACS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PACS2 (NM_015197)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PACS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PACS2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PACS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PACS2
      QuantiTect SYBR Green Assays in human, mouse, rat PACS2
      QuantiFast Probe-based Assays in human, mouse, rat PACS2

    Additional mRNA sequence: 

    AB011174.1 AB072449.1 AK098354.1 AY320284.2 BC010663.1 BC050351.1 BC065220.1 BC131591.1 

    17 DOTS entries:

    DT.95340845  DT.75136750  DT.100784499  DT.100784498  DT.99931200  DT.104677  DT.91725829  DT.100028808 
    DT.100737432  DT.100784500  DT.120730234  DT.40314722  DT.75113716  DT.91723664  DT.91723668  DT.95173287 
    DT.40253424 

    Selected AceView cDNA sequences (see all 183):

    BU196202 Z45646 AW516912 BQ435362 BQ086326 BQ894771 BM709620 BM772566 
    CA388842 BM974520 BG290468 BM973747 BU172061 BU179180 CA388843 BC065220 
    BQ669918 AI262885 CR609884 BQ678902 CO246386 AB011174 AJ713931 BQ877534 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PACS2 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a ·
    SP1:        -           -                                               -                                                                                   -   
    SP2:        -           -                                               -                                   -                                         -     -   
    SP3:                                                                                                                                                            
    SP4:                    -                                                                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 21b · 21c · 21d ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c · 27d
    SP1:  -                       -     -     -                                                   
    SP2:  -                       -     -     -                                                   
    SP3:                          -     -     -                                                   
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for PACS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PACS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCCGCTCA
    PACS2 Expression
    About this image


    PACS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    PACS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PACS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525626

    UniProtKB/Swiss-Prot: PACS2_HUMAN, Q86VP3
    Tissue specificity: Broadly expressed, with greatest levels in skeletal muscle followed by heart, brain, pancreas
    and testis

        Custom PCR Arrays for PACS2
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    QuantiFast Probe-based Assays in human, mouse, rat PACS2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PACS2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PACS2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pacs21 , 5 phosphofurin acidic cluster sorting protein 21, 5 88.08(n)1
    94.6(a)1
      12 (61.57 cM)5
    2178931  NM_001081170.11  NP_001074639.11 
     1130145085 
    chicken
    (Gallus gallus)
    Aves PACS21 phosphofurin acidic cluster sorting protein 2 78.85(n)
    86.38(a)
      424375  XM_422219.4  XP_422219.3 
    lizard
    (Anolis carolinensis)
    Reptilia PACS26
    phosphofurin acidic cluster sorting protein 2
    77(a)
    1 ↔ 1
    4(74152761-74225182)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pacs21 phosphofurin acidic cluster sorting protein 2 75.83(n)
    83.69(a)
      100488732  XM_002939547.2  XP_002939593.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pacs21 phosphofurin acidic cluster sorting protein 2 69.8(n)
    75.72(a)
      794778  NM_001122751.1  NP_001116223.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta KrT95D1 Krueppel target at 95D 49.74(n)
    40.24(a)
      42843  NM_170110.3  NP_732935.2 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-2321 tag-232 41.64(n)
    32.17(a)
      179304  NM_072986.5  NP_505387.1 


    ENSEMBL Gene Tree for PACS2 (if available)
    TreeFam Gene Tree for PACS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PACS2 gene
    PACS12  
    1 SIMAP similar gene for PACS2 using alignment to 6 protein entries:     PACS2_HUMAN (see all proteins):
    PACS1

    Find genes that share paralogs with PACS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PACS2 (see all 1842)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2008869831,2
    C--105783953(+) GCCAG-/TTTTTT 3 -- int10--------
    rs1483938161,2
    --105784257(+) GCGACA/GCTTTT 3 -- int10--------
    rs1873636511,2
    --105784503(+) GTTGCA/GGAGAC 3 -- int10--------
    rs128860641,2
    C,F,H--105784571(+) cacctC/Tggcct 3 -- int18Minor allele frequency- T:0.02NS EA NA 536
    rs1156302681,2
    C,F--105784579(+) CCTCCC/TGAAGT 3 -- int11Minor allele frequency- T:0.03WA 118
    rs96718901,2
    C,F,A,H--105784680(+) TGGCTC/G/TGATCA 3 -- int111NS EA NA WA CSA 544
    rs101341921,2
    C,F--105784927(+) gactaC/Taggcg 3 -- int11Minor allele frequency- T:0.50NA 4
    rs574691621,2
    C--105784931(+) ACAGGC/TGCCTG 3 -- int10--------
    rs1920723781,2
    --105785046(+) GCTGGA/TGTGCA 3 -- int10--------
    rs1835808241,2
    --105785124(+) CCGAGC/TAGCTG 3 -- int10--------

    HapMap Linkage Disequilibrium report for PACS2 (105766900 - 105864484 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PACS2 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749292CNV Deletion23290073
    esv1001547CNV Insertion20482838
    dgv2033n71CNV Loss21882294
    nsv832890CNV Loss17160897
    nsv902473CNV Loss21882294
    dgv2025n71CNV Loss21882294
    dgv2035n71CNV Loss21882294
    nsv902477CNV Loss21882294
    esv29986CNV Loss17803354
    esv24753CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PACS2
    DNA2.0 Custom Variant and Variant Library Synthesis for PACS2

    (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.)
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    OMIM gene information: 610423    OMIM disorders: --


    Find genes that share disorders with PACS2           About GenesLikeMe

    Genetic Association Database (GAD): PACS2
    Human Genome Epidemiology (HuGE) Navigator: PACS2 (2 documents)

    Export disorders for PACS2 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)
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    PubMed articles for PACS2 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with PACS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis. (PubMed id 15692567)1, 2, 3 Simmen T.... Thomas G. (EMBO J. 2005)
    2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    4. HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that triggers major histocompatibility complex class I (MHC-I) down- regulation: analysis using short interfering RNA and knock-out mice. (PubMed id 18296443)1, 2 Atkins K.M....Thomas G. (J. Biol. Chem. 2008)
    5. Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. (PubMed id 15692563)1, 2 Koettgen M.... Walz G. (EMBO J. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. An interdomain binding site on HIV-1 Nef interacts with PACS-1 and PACS-2 on endosomes to down-regulate MHC-I. (PubMed id 22496420)1 Dikeakos J.D....Thomas G. (Mol. Biol. Cell 2012)
    10. Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) protein-induced lysosomal translocation of proapoptotic effectors is mediated by phosphofurin acidic cluster sorting protein-2 (PACS-2). (PubMed id 22645134)1 Werneburg N.W....Gores G.J. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 23241 HGNC: 23794 AceView: KIAA0602 Ensembl:ENSG00000179364 euGenes: HUgn23241
    ECgene: PACS2 H-InvDB: PACS2

    (According to HUGE)
    About This Section

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    HUGE: KIAA0602

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

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    NameDescription
    PharmGKB entry for PACS2 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for PACS2 gene:
    Search GeneIP for patents involving PACS2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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