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MKKS Gene

protein-coding   GIFtS: 54
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MKKS Gene:
This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family.
The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein
also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves
ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream
open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can
encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with
Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Nov 2013)

GeneCards Summary for MKKS Gene:
MKKS (McKusick-Kaufman syndrome) is a protein-coding gene. Diseases associated with MKKS include mckusick-kaufman syndrome, and bardet-biedl syndrome 6. GO annotations related to this gene include unfolded protein 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011387.9  
Regulatory elements:
   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 Chromatin IP Primers for MKKS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
10,381,657 bp from pter      End:
10,414,870 bp from pter
Size:
33,214 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
Secondary accessions: A8K7B0 D3DW18

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

Explore proteomics data for MKKS at MOPED


See MKKS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000246062   ENSP00000382008   ENSP00000477297  

MKKS Human Recombinant Protein Products:

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LSBio Antibodies in human, mouse, rat for MKKS

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Cloud-Clone Corp. CLIAs for MKKS


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
CHAP: Heat Shock Proteins / Chaperonins

4 InterPro protein domains:
 IPR028790 MKKS
 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001103RNA polymerase II repressing transcription factor binding IPI--
GO:0005515protein binding IPI16327777
GO:0005524ATP binding IEA--
GO:0051082unfolded protein binding IEA--
     
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/body  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: Let us create your new Knockout/Knockin mouse model for MKKS
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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Predesigned siRNA for gene silencing in human, mouse, rat MKKS

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


(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
MKKS_HUMAN, Q9NPJ1: 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
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton5
cytosol5
nucleus2
extracellular1
mitochondrion1
peroxisome1

Gene Ontology (GO): 4 cellular component terms:    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


(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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    Pathway & Disease-focused RT2 Profiler PCR Array including MKKS: 
          Primary Cilia in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for MKKS

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for MKKS (Q9NPJ11, 2, 3 ENSP000002460624) via UniProtKB, MINT, STRING, and/or I2D (see all 112)
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
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Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001947heart looping ISS--
GO:0006457protein folding IEA--
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, 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 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)



MKKS for compounds           About GeneDecksing



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for MKKS gene (2 alternative transcripts): 
NM_018848.3  NM_170784.2  

Unigene Cluster for MKKS:

McKusick-Kaufman syndrome
Hs.472119  [show with all ESTs]
Unigene Representative Sequence: NM_018848
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000347364(uc002wnu.1 uc010zrd.1) ENST00000399054(uc002wnt.1)
ENST00000609375
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Search for qRT-PCR Assays for microRNAs that regulate MKKS
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat MKKS
Clone
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OriGene ORF clones in mouse, rat for MKKS
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): MKKS (NM_170784)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKKS
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKKS
Primer
Products:
    
OriGene qPCR primer pairs and template standards for MKKS
OriGene qSTAR qPCR primer pairs in human, mouse for MKKS
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKKS
  QuantiTect SYBR Green Assays in human, mouse, rat MKKS
  QuantiFast Probe-based Assays in human, mouse, rat MKKS

Additional mRNA sequence: 

AF075024.1 AF221992.1 AF275813.1 AK025741.1 AK291925.1 AK296439.1 AL157427.1 BC028973.2 
NR_072977.1 

9 DOTS entries:

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

Selected AceView cDNA sequences (see all 207):

AI247477 NM_018848 CB141647 BM764511 BX280501 AA351819 CB133122 BM772823 
BM726839 CD676766 AI185484 BM770490 AL157427 AA890565 BU686127 BQ549598 
BQ641810 CA423280 BE326884 BM772193 AI292350 AI017696 BQ677656 BU526879 

GeneLoc Exon Structure

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


MKKS expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 6) fully expand
 
 Brain (Nervous System)    fully expand to see all 4 entries
         Cerebral Cortex
 
 Trophoblast (Extraembryonic Tissues)
         Trophoblast Cells Trophoblast
 
 Ovary (Reproductive System)
         Oviduct
 
 Pancreas (Endocrine System)
         Islets of Langerhans
 
 Testis (Reproductive System)
         Leydig Cells Testis Interstitium
MKKS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MKKS Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.472119

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

    Pathway & Disease-focused RT2 Profiler PCR Array including MKKS: 
          Primary Cilia in human mouse rat

Primer
Products:
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OriGene qSTAR qPCR primer pairs in human, mouse for MKKS
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKKS
QuantiTect SYBR Green Assays in human, mouse, rat MKKS
QuantiFast Probe-based Assays in human, mouse, rat MKKS
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKKS

(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 chordates.

Orthologs for MKKS gene from Selected 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_021527.21  NP_067502.21 
 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
McKusick-Kaufman syndrome
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)
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  --

(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 MKKS (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
----------
rs1490511481,2,,4
CBardet-Biedl syndrome 6 (BBS6)4 --10334086(+) ATGGAC/TGACGT 5 H R nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4550
rs1423272581,2,,4
C,FBardet-Biedl syndrome 6 (BBS6)4 --10334165(+) CAAATC/TTGGCC 5 N D nc-transcript-variantmis12Minor allele frequency- T:0.00NA EU 5871
rs743153981,2,,4
CBardet-Biedl syndrome 6 (BBS6)4 pathogenic110341366(-) GCTGCC/TTAACC 5 P L int1 mis10--------
rs743153941,2,,4
C,FMcKusick-Kaufman syndrome (MKKS)4 pathogenic110341472(-) AGGTGG/TCACTC 5 A S int1 mis12Minor allele frequency- T:0.00NA EU 5809
rs1381114221,2,,4
FBardet-Biedl syndrome 6 (BBS6)4 --10341732(+) TACTAC/TGCACC 5 H R int1 mis11Minor allele frequency- T:0.00NA 4540
rs743153991,2,,4
CBardet-Biedl syndrome 6 (BBS6)4 pathogenic110342027(-) GTACAA/GCCTCA 5 T A int1 mis10--------
rs289378751,2,,4
CBardet-Biedl syndrome 6 (BBS6)4 pathogenic110342041(-) TGGAGA/GTTACG 5 D G int1 mis1 ese30--------
rs743153961,2,,4
CMcKusick-Kaufman syndrome (MKKS)4 pathogenic110342086(-) ATGCTA/GTGGCC 5 Y C int1 mis11Minor allele frequency- G:0.00NA 4550
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--------

HapMap Linkage Disequilibrium report for MKKS (10381657 - 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

Site Specific Mutation Identification with 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.)
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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

  • Selected diseases for MKKS (see all 38):    About MalaCards
    mckusick-kaufman syndrome    bardet-biedl syndrome 6    mkks-related bardet-biedl syndrome    bardet-biedl syndrome
    laurence-moon syndrome    bardet-biedl syndrome, modifier of    ellis-van creveld syndrome    thrombocytopenia-absent radius syndrome
    pallister-hall syndrome    joubert syndrome and related disorders    was-related disorders    meckel syndrome
    tetralogy of fallot    joubert syndrome    polydactyly    pigmentary retinopathy
    fundus dystrophy    congenital heart defect    thrombocytopenia    retinal disease

    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

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    PubMed articles for MKKS gene, integrated from 10 sources (see all 101):
    (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. (J. Clin. Endocrinol. Metab. 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. (J. Cell Sci. 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. (Am. J. Hum. Genet. 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. (Int J Obes (Lond) 2008)
    5. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PubMed id 11567139)1, 2, 9 Katsanis N.... Lupski J.R. (Science 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. (Ophthalmology 2011)
    7. Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study. (PubMed id 19876004)1, 4 Corpeleijn E....Blaak E.E. (Obesity (Silver Spring) 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    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. (Hum. Hered. 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. (Mol. Biol. Cell 2008)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=MKKS[genesymbol]

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