C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: McKusick-Kaufman syndrome
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000027274 Mkks 10090 - 2:136873780-136891389 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000028730 Mkks-002 136873780-136891382 protein_coding
  ENSMUST00000110089 Mkks-001 136873780-136891389 protein_coding
  ENSMUST00000144275 Mkks-003 136881219-136891154 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000028730ENSMUST00000110089ENSMUST00000144275
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000028730 N/A 0.509±0.00 N/A N/A 2.527±0.00 N/A N/A N/A N/A N/A 1.955±0.50 1.113±0.32 N/A N/A
ENSMUST00000110089 6.442±0.53 2.933±0.70 4.555±0.45 4.094±1.02 4.409±1.25 6.000±0.93 9.022±0.77 7.731±1.25 4.554±1.43 4.211±0.19 3.269±0.39 2.900±0.70 2.841±1.86 1.395±0.15
ENSMUST00000144275 N/A N/A N/A 19.819±0.00 N/A N/A 7.135±0.00 N/A 3.417±0.11 N/A 23.303±0.83 6.845±3.63 9.748±3.60 4.760±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00043K CIL_00043K_0002 CGP 2:136713453-136891389
CIL_000360 CIL_000360_0002 CGP 2:136873780-137071950

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IEA RNA polymerase II repressing transcription factor binding
GO:0005515 IEA protein binding
GO:0005524 IEA ATP binding
GO:0005622 IEA intracellular
GO:0005737 IEA cytoplasm
GO:0005813 IEA centrosome
GO:0006457 IEA protein folding
GO:0007286 IMP spermatid development
GO:0007608 IMP sensory perception of smell
GO:0010629 IMP negative regulation of gene expression
GO:0014824 IMP artery smooth muscle contraction
GO:0021756 IMP striatum development
GO:0021766 IMP hippocampus development
GO:0021987 IMP cerebral cortex development
GO:0031514 IMP motile cilium
GO:0033210 IMP leptin-mediated signaling pathway
GO:0035058 IGI nonmotile primary cilium assembly
GO:0035176 IMP social behavior
GO:0038108 IMP negative regulation of appetite by leptin-mediated signaling pathway
GO:0040018 IMP positive regulation of multicellular organism growth
GO:0042311 IMP vasodilation
GO:0042384 IMP cilium assembly
GO:0044321 IMP response to leptin
GO:0045444 IEP fat cell differentiation
GO:0045494 IMP photoreceptor cell maintenance
GO:0045776 IMP negative regulation of blood pressure
GO:0048854 IMP brain morphogenesis
GO:0050910 IMP detection of mechanical stimulus involved in sensory perception of sound
GO:0051082 IEA unfolded protein binding
GO:0051131 IMP chaperone-mediated protein complex assembly
GO:0051216 IMP cartilage development
GO:0060271 IMP cilium morphogenesis
GO:0060296 IMP regulation of cilium beat frequency involved in ciliary motility

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000016139 mkks McKusick-Kaufman syndrome protein_coding Danio_rerio
ENSG00000125863 MKKS McKusick-Kaufman syndrome protein_coding Homo_sapiens

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