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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: cystic fibrosis transmembrane conductance regulator
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000041301 Cftr 10090 + 6:18170687-18322768 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000045706 Cftr-001 18170687-18322768 protein_coding
  ENSMUST00000115405 Cftr-004 18170687-18322767 nonsense_mediated_decay
  ENSMUST00000115406 Cftr-006 18170824-18321033 protein_coding
  ENSMUST00000129452 Cftr-002 18170771-18236655 protein_coding
  ENSMUST00000140407 Cftr-005 18170687-18322767 nonsense_mediated_decay
  ENSMUST00000140532 Cftr-003 18255224-18268130 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000045706ENSMUST00000115405ENSMUST00000115406ENSMUST00000129452
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000045706 1.500±0.08 0.049±0.00 0.046±0.02 N/A 4.433±0.55 0.029±0.01 0.284±0.20 0.019±0.01 1.222±0.26 N/A 1.690±0.85 0.027±0.01 1.922±1.00
ENSMUST00000115405 N/A N/A 0.026±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.586±0.00
ENSMUST00000115406 0.027±0.02 N/A 0.060±0.02 N/A N/A 0.016±0.00 0.081±0.00 0.030±0.02 0.303±0.02 0.007±0.00 0.734±0.53 0.021±0.01 1.628±0.00
ENSMUST00000129452 N/A 0.103±0.00 N/A 0.065±0.02 N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00063R CIL_00063R_0003 CGP 6:18050964-18322768
CIL_0005U6 CIL_0005U6_0003 CGP 6:18170687-18514869

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005254 ISS chloride channel activity
GO:0005260 IEA channel-conductance-controlling ATPase activity
GO:0005515 IPI protein binding
GO:0005524 IEA ATP binding
GO:0005737 IEA cytoplasm
GO:0005769 ISS early endosome
GO:0005886 ISS plasma membrane
GO:0005902 IEA microvillus
GO:0006200 IEA ATP catabolic process
GO:0006695 IMP cholesterol biosynthetic process
GO:0006821 IGI chloride transport
GO:0006833 IEA water transport
GO:0009986 IEA cell surface
GO:0015106 IMP bicarbonate transmembrane transporter activity
GO:0015108 IMP chloride transmembrane transporter activity
GO:0015701 IEA bicarbonate transport
GO:0015705 IEA iodide transport
GO:0016021 IEA integral component of membrane
GO:0016323 IEA basolateral plasma membrane
GO:0016324 IEA apical plasma membrane
GO:0019869 ISS chloride channel inhibitor activity
GO:0019899 IEA enzyme binding
GO:0030165 IEA PDZ domain binding
GO:0030301 IMP cholesterol transport
GO:0030321 IEA transepithelial chloride transport
GO:0030324 IEA lung development
GO:0030659 IEA cytoplasmic vesicle membrane
GO:0031205 IEA endoplasmic reticulum Sec complex
GO:0032870 IEA cellular response to hormone stimulus
GO:0034097 IEA response to cytokine
GO:0034707 IEA chloride channel complex
GO:0042311 IEA vasodilation
GO:0042493 IEA response to drug
GO:0043234 IEA protein complex
GO:0043434 IEA response to peptide hormone
GO:0043627 IEA response to estrogen
GO:0045909 IEA positive regulation of vasodilation
GO:0048240 IMP sperm capacitation
GO:0051454 IMP intracellular pH elevation
GO:0060081 IMP membrane hyperpolarization
GO:0070062 IEA extracellular vesicular exosome
GO:0071320 IDA cellular response to cAMP
GO:1902476 IEA chloride transmembrane transport
GO:1902943 IEA positive regulation of voltage-gated chloride channel activity

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000041107 cftr cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) protein_coding Danio_rerio
ENSG00000001626 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) protein_coding Homo_sapiens

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