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

KIAA0196 Gene

protein-coding   GIFtS: 58
GCID: GC08M126586

KIAA0196

(Previous name: spastic paraplegia 8 (autosomal dominant))
(Previous symbol: SPG8)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(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
KIAA01961 2
SPG81 2 5
strumpellin1 2
Spastic Paraplegia 8 (Autosomal Dominant)1
WASH Complex Subunit Strumpellin2

External Ids:    HGNC: 289841   Entrez Gene: 98972   Ensembl: ENSG000001649617   OMIM: 6106575   UniProtKB: Q127683   
ORGUL members:         
NONCODE14:n341602      

Export aliases for KIAA0196 gene to outside databases

Previous GC identifers: GC08M125060 GC08M126040 GC08M125705 GC08M125993 GC08M126105 GC08M121360 GC08M126201 GC08M126434


(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 KIAA0196 Gene:
This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and
a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal
muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic
paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by
progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest
descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary
spastic paraplegia diseases. (provided by RefSeq, Aug 2009)

GeneCards Summary for KIAA0196 Gene: 
KIAA0196 (KIAA0196) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with KIAA0196 include spastic paraplegia 8, and hereditary spastic paraplegia.

UniProtKB/Swiss-Prot: STRUM_HUMAN, Q12768
Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates
the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules
that serve as transport intermediates during endosome sorting

Gene Wiki entry for KIAA0196 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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0196 gene promoter:
         POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Evi-1   Arnt   HNF-1A   MEF-2A   FAC1   HNF-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA0196 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA0196

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0196


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

Entrez Gene cytogenetic band: 8q24.13   Ensembl cytogenetic band:  8q24.13   HGNC cytogenetic band: 8q24.13

KIAA0196 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0196 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M126586:  view genomic region     (about GC identifiers)

Start:
126,036,502 bp from pter      End:
126,104,082 bp from pter
Size:
67,581 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: STRUM_HUMAN, Q12768 (See protein sequence)
Recommended Name: WASH complex subunit strumpellin  
Size: 1159 amino acids; 134286 Da
Subunit: Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or
CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P),
FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53
Sequence caution: Sequence=BAA12109.2; Type=Erroneous initiation;
Secondary accessions: A8K4R7 Q3KQX5 Q8TBQ2

Explore the universe of human proteins at neXtProt for KIAA0196: NX_Q12768

Explore proteomics data for KIAA0196 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12768

  • KIAA0196 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA0196 Protein Expression
    REFSEQ proteins: NP_055661.3  
    ENSEMBL proteins: 
     ENSP00000318016   ENSP00000429676   ENSP00000427946  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IEA--
    GO:0071203WASH complex IDA19922875

    KIAA0196 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
    1 InterPro protein domain:
     IPR019393 WASH_strumpellin

    Graphical View of Domain Structure for InterPro Entry Q12768

    ProtoNet protein and cluster: Q12768

    UniProtKB/Swiss-Prot: STRUM_HUMAN, Q12768
    Similarity: Belongs to the strumpellin family


    KIAA0196 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: STRUM_HUMAN, Q12768
    Function: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates
    the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules
    that serve as transport intermediates during endosome sorting

         Genatlas biochemistry entry for KIAA0196:
    Null

    Phenotypes:
         1 GenomeRNAi human phenotype for KIAA0196:
     Decreased cell number 

    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 KIAA0196

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/15 Interacting proteins for KIAA0196 (Q127683 ENSP000003180164) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1033Q2M3893, ENSP000003280624I2D: score=1 STRING: ENSP00000328062
    WASH1A8K0Z33I2D: score=1 
    CCDC53ENSP000002400794STRING: ENSP00000240079
    CAPZA1ENSP000002631684STRING: ENSP00000263168
    FAM21AENSP000002826334STRING: ENSP00000282633
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0016197endosomal transport IEA--

    KIAA0196 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 KIAA0196 (STRUM)

    Search CenterWatch for drugs/clinical trials and news about KIAA0196 / STRUM

    (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 KIAA0196 gene: 
    NM_014846.3  

    Unigene Cluster for KIAA0196:

    KIAA0196
    Hs.270043  [show with all ESTs]
    Unigene Representative Sequence: NM_014846
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519042 ENST00000318410(uc003yrt.3 uc011lir.2) ENST00000517845
    ENST00000530856 ENST00000523297 ENST00000519340 ENST00000521109 ENST00000523397


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    Inhib. RNA
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    Additional mRNA sequence: 

    AK223628.1 AK291032.1 AK296970.1 BC026951.1 BC106015.1 D83780.1 

    11 DOTS entries:

    DT.100789091  DT.118459  DT.100789095  DT.121467506  DT.121467534  DT.121467579  DT.102833134  DT.102833136 
    DT.65284340  DT.95256057  DT.99932332 

    24/242 AceView cDNA sequences (see all 242):

    BX641612 BQ436198 AU120610 N95646 AA806455 BG104702 AA034959 AA854610 
    AI655451 AI264002 BQ774485 BI223364 BM998463 AL134860 CD643648 H43321 
    CB243536 AI470719 AA845377 AL541605 AA256830 CA414368 AA287634 BQ228434 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0196 (see all 7)    About this scheme

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

    ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30
    SP1:                          -                                   -                           
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for KIAA0196

    (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

    KIAA0196 expression in normal human tissues (normalized intensities)      KIAA0196 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATTTATAT
    KIAA0196 Expression
    About this image


    KIAA0196 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 8 entries
             Metencephalon
             spinal cord/lateral wall/marginal layer   
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain/lateral wall   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             spinal cord/lateral wall/marginal layer   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             autonomic/sympathetic/ganglion   
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   

    See KIAA0196 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0196

    SOURCE GeneReport for Unigene cluster: Hs.270043

    UniProtKB/Swiss-Prot: STRUM_HUMAN, Q12768
    Tissue specificity: Expressed ubiquitously

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    (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 eukaryotes.

    Orthologs for KIAA0196 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia E430025E21Rik1 , 5 RIKEN cDNA E430025E21 gene1, 5 88.52(n)1
    95.77(a)1
      15 (25.17 cM)5
    2235931  NM_153548.21  NP_705776.21 
     593319975 
    chicken
    (Gallus gallus)
    Aves KIAA01961 KIAA0196 81.1(n)
    92.32(a)
      420334  XM_418441.3  XP_418441.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA01966
    Uncharacterized protein
    91(a)
    1 ↔ 1
    4(5743048-5772864)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.245282 Xenopus laevis transcribed sequence with moderate similarity more 83.55(n)    CB197996.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc559082 hypothetical protein MGC55908 77.49(n)   393152  BC045490.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG122721 , 3 CG122721 43(a)3
    50.86(n)1
    45.42(a)1
      72D83
    397661  NM_140583.31  NP_648840.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T05E7.31 , 3 Protein T05E7.31 22(a)3
    42.38(n)1
    26.09(a)1
      I(6196237-6200517)3
    1723061  NM_059383.21  NP_491784.11 
    rice
    (Oryza sativa)
    Liliopsida Os04g03988001 hypothetical protein 45.84(n)
    31.44(a)
      4335713  NM_001059210.1  NP_001052675.1 


    ENSEMBL Gene Tree for KIAA0196 (if available)
    TreeFam Gene Tree for KIAA0196 (if available)

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

    (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

    10/1720 SNPs in KIAA0196 are shown (see all 1720)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0319564
    Spastic paraplegia 8, autosomal dominant (SPG8)4--see VAR_0319562 L F mis40--------
    VAR_0319554
    Spastic paraplegia 8, autosomal dominant (SPG8)4--see VAR_0319552 N D mis40--------
    VAR_0319574
    Spastic paraplegia 8, autosomal dominant (SPG8)4--see VAR_0319572 V F mis40--------
    rs803388671,2
    Cpathogenic1126337033(-) TGAAGG/TTTTTG 2 V F mis10--------
    rs803388661,2
    Cpathogenic1126337790(-) GAGTTC/G/TGTATC 3 F L mis10--------
    rs803388651,2
    Cpathogenic1126341407(-) TAGAAA/GACCTT 2 N D mis10--------
    rs1440554531,2
    C--121360130(+) GACAC-/AGATTGT 1 -- ds50010--------
    rs678060061,2
    C--121380007(+) CAGGT-/CAGTTT 1 -- int10--------
    rs1495221251,2
    C--121397683(+) GGGCA-/AAGAAGAG 1 -- int10--------
    rs797035491,2
    --121400424(+) TATTTT/ATTTTT 1 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for KIAA0196 (126036502 - 126104082 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA0196:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv465803CNV Loss19166990
    nsv891434CNV Gain21882294


    Human Gene Mutation Database (HGMD): KIAA0196
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA0196
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0196

    (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: 610657   
    OMIM disorders: 603563  
    UniProtKB/Swiss-Prot: STRUM_HUMAN, Q12768
  • Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 8 diseases for KIAA0196:    About MalaCards
    spastic paraplegia 8    hereditary spastic paraplegia    paraplegia    spasticity
    optic atrophy    ulcerative colitis    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for KIAA0196:
    Paraplegia

    KIAA0196 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    GeneTests: KIAA0196
    GeneReviews: KIAA0196
    Genetic Association Database (GAD): KIAA0196
    Human Genome Epidemiology (HuGE) Navigator: KIAA0196 (1 document)

    Export disorders for KIAA0196 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 KIAA0196 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with KIAA0196)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. (PubMed id 17160902)1, 2, 3 Valdmanis P.N.... Rouleau G.A. (2007)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PubMed id 19922875)1, 2 Derivery E.... Gautreau A. (2009)
    4. 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)
    5. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (PubMed id 9973294)1, 3 Hedera P....Fink J.K. (1999)
    6. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8724849)1, 2 Nagase T.... Nomura N. (1996)
    7. The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH comp lex assembly and function. (PubMed id 23085491)1 Freeman C....Reid E. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (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: 9897 HGNC: 28984 AceView: KIAA0196 Ensembl:ENSG00000164961 euGenes: HUgn9897
    ECgene: KIAA0196 H-InvDB: KIAA0196

    (According to HUGE)
    About This Section
    HUGE: KIAA0196

    (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 KIAA0196 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 KIAA0196 gene:
    Search GeneIP for patents involving KIAA0196

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



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