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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. MKKS, McKusick-Kaufman syndrome
Sequence ID:NM_018848
NM_170784
NR_072977
RefSeqGene ID:NG_009109
Entrez Gene ID:8195
Ensembl ID:ENSG00000125863

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    bone, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, spleen, stem cell, stomach, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
BARDET-BIEDL SYNDROME 1ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CCDC28B
CEP290
MKS1
TMEM67
TRIM32
TTC8
WDPCP
MCKUSICK-KAUFMAN SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:20p12Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:20: 10394075 - 10401298

 Exon Info From UCSC:
NM_018848
NM_170784

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3921348Full LengthBC028973McKusick-Kaufman syndrome
3954458IncompleteBC009180McKusick-Kaufman syndrome
4052296IncompleteBC013287McKusick-Kaufman syndrome

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_018848 NP_061336 Q9NPJ1  
NM_170784 NP_740754 Q9NPJ1  

Related Sequences

 
mRNAGenPeptSwissProt
AF221992 AAF73872 Q9NPJ1
AF221993 AAF73873 Q9NPJ1
AF275813 AAG23823 Q9HB66
BC028973 AAH28973 Q8IZ22
AK025741 BAB15230 Q9H6M6
AK291925 BAF84614 Q9NPJ1
AK296439 BAH12355 B7Z3W9
AL157427 CAB75652 Q9NPJ1
AM393018 CAL37896  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MKKS NP_061336 R.norvegicus Mkks 311456   NP_001008354 78
M.musculus Mkks 59030 Gene Info NP_001135418 77

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)