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

MKKS Gene

protein-coding   GIFtS: 55
GCID: GC20M010385

McKusick-Kaufman Syndrome


(Previous symbol: BBS6)
Microbiology & Infectious Diseases Congress
  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
McKusick-Kaufman Syndrome1 2     KMS2 5
BBS61 2 3 5     MKS2 5
Bardet-Biedl Syndrome 6 Protein2 3     McKusick-Kaufman/Bardet-Biedl Syndromes Putative Chaperonin2
HMCS2 5     

External Ids:    HGNC: 71081   Entrez Gene: 81952   Ensembl: ENSG000001258637   OMIM: 6048965   UniProtKB: Q9NPJ13   

Export aliases for MKKS gene to outside databases

Previous GC identifers: GC20M010373 GC20M010333 GC20M010380 GC20M010337


(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 MKKS Gene:
This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The
encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been
observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jun 2012)

GeneCards Summary for MKKS Gene: 
MKKS (McKusick-Kaufman syndrome) is a protein-coding gene. Diseases associated with MKKS include bardet-biedl syndrome, and mckusick-kaufman syndrome. GO annotations related to this gene include unfolded protein binding and ATP binding.

UniProtKB/Swiss-Prot: MKKS_HUMAN, Q9NPJ1
Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the
BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating
transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system
development. May play a role in cytokinesis

Gene Wiki entry for MKKS 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_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MKKS gene promoter:
         SRF   USF1   SRF (504 AA)   USF-1   FOXD3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMKKS promoter sequence
   Search SABiosciences Chromatin IP Primers for MKKS

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


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

Entrez Gene cytogenetic band: 20p12   Ensembl cytogenetic band:  20p12.2   HGNC cytogenetic band: 20p12

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

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M010385:  view genomic region     (about GC identifiers)

Start:
10,385,832 bp from pter      End:
10,414,870 bp from pter
Size:
29,039 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: MKKS_HUMAN, Q9NPJ1 (See protein sequence)
Recommended Name: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin  
Size: 570 amino acids; 62342 Da
Subunit: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5
AND CCT8. Interacts with STUB1. Interacts with BBS2 (via coiled coil domain). Interacts with CCDC28B
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol.
Note=The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube
surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during
mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly
mobile and rapidly shuttles between the cytosol and centrosome
Secondary accessions: A8K7B0 D3DW18

Explore the universe of human proteins at neXtProt for MKKS: NX_Q9NPJ1

Explore proteomics data for MKKS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NPJ1

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

    MKKS Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_061336.1  NP_740754.1  

    ENSEMBL proteins: 
     ENSP00000382008   ENSP00000246062  

    Human Recombinant Protein Products for MKKS: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MKKS 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol IEA--
    GO:0031514motile cilium ISS--

    MKKS 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
    HGNC Gene Families: 
    CHAP: Heat Shock Proteins / Chaperonins

    3 InterPro protein domains:
     IPR027409 GroEL-like_apical_dom
     IPR002423 Cpn60/TCP-1
     IPR027413 GROEL-like_equatorial

    Graphical View of Domain Structure for InterPro Entry Q9NPJ1

    ProtoNet protein and cluster: Q9NPJ1

    UniProtKB/Swiss-Prot: MKKS_HUMAN, Q9NPJ1
    Domain: The substrate-binding apical domain region is sufficient for centrosomal association
    Similarity: Belongs to the TCP-1 chaperonin family


    MKKS 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: MKKS_HUMAN, Q9NPJ1
    Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the
    BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating
    transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system
    development. May play a role in cytokinesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16327777
    GO:0005524ATP binding IEA--
    GO:0051082unfolded protein binding TAS10802661
         
    MKKS for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mkks):
     behavior/neurological  cardiovascular system  craniofacial  growth/size  hearing/vestibular/ear 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system  reproductive system 
     respiratory system  taste/olfaction  vision/eye 

    MKKS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mkkstm1Vcs for MKKS

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

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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKKS


    (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 MKKS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/18 Interacting proteins for MKKS (Q9NPJ11, 2, 3 ENSP000002460624) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTNP212462, 3MINT-65572 I2D: score=5 
    STK16O757163, ENSP000003799644I2D: score=1 STRING: ENSP00000379964
    TGIF1Q155833, ENSP000003279594I2D: score=1 STRING: ENSP00000327959
    ICA1Q050843, ENSP000003799084I2D: score=1 STRING: ENSP00000379908
    BBS12Q6ZW611, ENSP000003190624EBI-721319,EBI-6128352 STRING: ENSP00000319062
    About this table

    Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001947heart looping ISS--
    GO:0006457protein folding TAS10802661
    GO:0007286spermatid development ISS--
    GO:0007368determination of left/right symmetry ISS--
    GO:0007507heart development TAS10802661

    MKKS 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

    MKKS for compounds           About GeneDecksing

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

    Browse Tocris compounds for MKKS

    4 Novoseek inferred chemical compound relationships for MKKS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 45.3 6 9889102 (2), 16407200 (1), 16182133 (1), 17163770 (1)
    tyrosine 21.8 5 9889102 (2), 16407200 (1), 16182133 (1)
    serine 4.56 1 17163770 (1)
    atp 0 1 17881352 (1)

    Search CenterWatch for drugs/clinical trials and news about MKKS

    (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 MKKS gene (2 alternative transcripts): 
    NM_018848.3  NM_170784.2  

    Unigene Clusters for MKKS:

    McKusick-Kaufman syndrome
    Hs.472119  [show with all ESTs], Hs.741430  [show with all ESTs]
    Unigene Representative Sequences: NM_018848, CF780632
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399054(uc002wnt.1) ENST00000347364(uc002wnu.1 uc010zrd.1)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Products:
         
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MKKS

    Additional mRNA sequence: 

    BC009180.1 BC013287.1 

    10 DOTS entries:

    DT.452020  DT.95282801  DT.95070585  DT.91746002  DT.95282790  DT.100818446  DT.40298117  DT.120801002 
    DT.91705394  DT.92012295 

    24/207 AceView cDNA sequences (see all 207):

    BQ423217 BU526879 BM661583 CD676766 CB124359 AI017696 BQ574234 BQ549598 
    AI185484 BM473886 AF221993 BE646191 BM558221 CB141647 AI242362 AL157427 
    CR597193 AI494301 AA603212 CF454692 BU686127 BM765598 AF221992 BQ675098 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for MKKS (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c
    SP1:        -     -                       -                                       
    SP2:              -                       -                                       
    SP3:        -                                                                     
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for MKKS

    (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

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


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

    SOURCE GeneReport for Unigene clusters: Hs.472119 Hs.741430

    UniProtKB/Swiss-Prot: MKKS_HUMAN, Q9NPJ1
    Tissue specificity: Widely expressed in adult and fetal tissues

        SABiosciences Expression via Pathway-Focused PCR Array including MKKS: 
              Primary Cilia in human mouse rat

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    In Situ
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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 chordates.

    Orthologs for MKKS gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mkks1 , 5 McKusick-Kaufman syndrome protein5
    McKusick-Kaufman syndrome1
    82.69(n)1
    77.19(a)1
      2 (67.64 cM)5
    590301  NM_001141946.11  NP_001135418.11 
     1368737805 
    chicken
    (Gallus gallus)
    Aves MKKS1 McKusick-Kaufman syndrome 68.55(n)
    62.08(a)
      416737  NM_001199410.1  NP_001186339.1 
    lizard
    (Anolis carolinensis)
    Reptilia MKKS6
    Uncharacterized protein
    58(a)
    1 ↔ 1
    1(134279725-134296580)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL888152.22   -- 77.84(n)    AL888152.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045401.12   -- 69.03(n)   393134  BC045401.1 


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

    10/789 SNPs in MKKS are shown (see all 789)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0170364
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0170362 S P mis40--------
    VAR_0389004
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0389002 T P mis40--------
    VAR_0098664
    McKusick-Kaufman syndrome (MKKS)4--see VAR_0098662 H Y mis40--------
    VAR_0662634
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0662632 C R mis40--------
    VAR_0389024
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0389022 S P mis40--------
    VAR_0170384
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0170382 S A mis40--------
    VAR_0388984
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0388982 A P mis40--------
    VAR_0131614
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0131612 C S mis40--------
    VAR_0388994
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0388992 T A mis40--------
    VAR_0662644
    Bardet-Biedl syndrome 6 (BBS6)4--see VAR_0662642 P L mis40--------

    HapMap Linkage Disequilibrium report for MKKS (10385832 - 10414870 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MKKS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv522874CNV Loss19592680


    Human Gene Mutation Database (HGMD): MKKS

    Locus Specific Mutation Databases (LSDB): MKKS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MKKS
    DNA2.0 Custom Variant and Variant Library Synthesis for MKKS

    (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: 604896   
    OMIM disorders: 236700  209900  
    UniProtKB/Swiss-Prot: MKKS_HUMAN, Q9NPJ1
  • McKusick-Kaufman syndrome (MKKS) [MIM:236700]: Autosomal recessive developmental disorder. It is
    characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Bardet-Biedl syndrome 6 (BBS6) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/35 diseases for MKKS (see all 35):    About MalaCards
    bardet-biedl syndrome    mckusick-kaufman syndrome    bardet-biedl syndrome 6    mkks-related bardet-biedl syndrome
    laurence-moon syndrome    ellis-van creveld syndrome    thrombocytopenia-absent radius syndrome    was-related disorders
    pallister-hall syndrome    meckel syndrome    joubert syndrome    joubert syndrome and related disorders
    polydactyly    tetralogy of fallot    congenital heart defect    pigmentary retinopathy
    fundus dystrophy    thrombocytopenia    retinal disease    retinal degeneration

    8 diseases from the University of Copenhagen DISEASES database for MKKS:
    Polydactyly     Bardet-Biedl syndrome     Ellis-Van Creveld syndrome     Congenital heart defect
    Pallister-Hall syndrome     Retinitis pigmentosa     Laurence-Moon syndrome     Fundus dystrophy

    MKKS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10 Novoseek inferred disease relationships for MKKS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mckusick-kaufman syndrome 94.7 8 20193073 (1), 15155861 (1), 11377969 (1), 11381270 (1) (see all 5)
    bardet-biedl syndrome 89.1 1 15772095 (1)
    polydactyly 75.4 3 11381270 (1), 15772095 (1)
    anthrax 73.3 6 18269913 (2), 18413261 (1), 12788955 (1), 18319331 (1) (see all 5)
    retinal degeneration 46.9 1 15731008 (1)
    heart defects congenital 45.7 2 11381270 (1)
    retinitis pigmentosa 43.8 1 15772095 (1)
    obesity 31.8 3 18813213 (1), 15772095 (1), 15731008 (1)
    congenital heart disease 29.8 1 15731008 (1)
    rheumatoid arthritis 0 1 13130464 (1)

    GeneTests: MKKS
    GeneReviews: MKKS
    Genetic Association Database (GAD): MKKS
    Human Genome Epidemiology (HuGE) Navigator: MKKS (10 documents)

    Export disorders for MKKS 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 MKKS gene, integrated from 9 sources (see all 98):
    (articles sorted by number of sources associating them with MKKS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity. (PubMed id 15483080)1, 2, 4 Andersen K.L....Pedersen O. (2005)
    2. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. (PubMed id 15731008)1, 2, 9 Kim J.C.... Leroux M.R. (2005)
    3. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. (PubMed id 11179009)1, 2, 9 Beales P.L....Lupski J.R. (2001)
    4. Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population. (PubMed id 18813213)1, 4, 9 Rouskas K....Kouvatsi A. (2008)
    5. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. (PubMed id 11567139)1, 2, 9 Katsanis N.... Lupski J.R. (2001)
    6. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Obesity-related Polymorphisms and Their Associations With the Ability to Regulate Fat Oxidation in Obese Europeans: The NUGENOB Stud y. (PubMed id 19876004)1, 4 Corpeleijn E....Blaak E.E. (2009)
    9. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PubMed id 19077438)1, 4 Chung W.K....Tiwari H.K. (2009)
    10. MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. (PubMed id 18094050)1, 2 Hirayama S.... Nagata K. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8195 HGNC: 7108 AceView: MKKS Ensembl:ENSG00000125863 euGenes: HUgn8195
    ECgene: MKKS H-InvDB: MKKS

    (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 MKKS Pharmacogenomics, SNPs, Pathways
    Mutations of the MKKS genehttp://www.retina-international.org/files/sci-news/mkksmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MKKS

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

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



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