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 (ATP-binding cassette sub-family C, member 7)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000001626 CFTR 9606 + 7:117465784-117715971 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000003084 CFTR-001 117479963-117668665 protein_coding
  ENST00000426809 CFTR-005 117480095-117667071 protein_coding
  ENST00000429014 CFTR-007 117689713-117715971 processed_transcript
  ENST00000446805 CFTR-004 117479304-117530978 protein_coding
  ENST00000468795 CFTR-002 117611617-117627910 protein_coding
  ENST00000472848 CFTR-006 117559638-117587749 processed_transcript
  ENST00000546407 CFTR-003 117465784-117504308 processed_transcript
  ENST00000600166 CFTR-008 117652843-117715948 protein_coding
  ENST00000608965 CFTR-009 117710017-117715873 processed_transcript
  ENST00000610149 CFTR-010 117710132-117715827 processed_transcript
  ENST00000621535 CFTR-011 117713753-117715901 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; BreastColonHeartKidneyLungOvaryPlacentaENST00000003084ENST00000426809
Transcript ID Breast Colon Heart Kidney Lung Ovary Placenta
ENST00000003084 0.735±0.00 6.627±4.56 0.031±0.00 N/A 1.562±0.40 7.786±6.54 0.065±0.00
ENST00000426809 0.789±0.00 12.898±0.00 N/A 0.892±0.00 2.432±0.00 8.171±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00063R CIL_00063R_0002 CGP 7:117363222-117715971
CIL_0005U6 CIL_0005U6_0002 CGP 7:117465784-117874139

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005224 TAS ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005254 IDA chloride channel activity
GO:0005260 NAS channel-conductance-controlling ATPase activity
GO:0005515 IPI protein binding
GO:0005524 IEA ATP binding
GO:0005737 IEA cytoplasm
GO:0005769 IDA early endosome
GO:0005886 IDA plasma membrane
GO:0005902 IEA microvillus
GO:0006200 IEA ATP catabolic process
GO:0006695 IEA cholesterol biosynthetic process
GO:0006810 TAS:IEA transport
GO:0006821 IEA chloride transport
GO:0006833 IEA water transport
GO:0007585 TAS respiratory gaseous exchange
GO:0009986 IDA cell surface
GO:0015106 ISS bicarbonate transmembrane transporter activity
GO:0015108 ISS chloride transmembrane transporter activity
GO:0015701 IEA bicarbonate transport
GO:0015705 IEA iodide transport
GO:0016021 IEA integral component of membrane
GO:0016323 NAS basolateral plasma membrane
GO:0016324 IDA apical plasma membrane
GO:0016887 IEA ATPase activity
GO:0019869 IDA chloride channel inhibitor activity
GO:0019899 IPI enzyme binding
GO:0030165 IDA PDZ domain binding
GO:0030301 IEA cholesterol transport
GO:0030321 IEA transepithelial chloride transport
GO:0030324 IEA lung development
GO:0030659 IEA cytoplasmic vesicle membrane
GO:0031205 IDA 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:0042626 IEA ATPase activity, coupled to transmembrane movement of substances
GO:0043234 IDA protein complex
GO:0043434 IEA response to peptide hormone
GO:0043627 IEA response to estrogen
GO:0045909 IEA positive regulation of vasodilation
GO:0048240 ISS sperm capacitation
GO:0051454 ISS intracellular pH elevation
GO:0055085 TAS:IEA transmembrane transport
GO:0060081 ISS membrane hyperpolarization
GO:0070062 IDA extracellular vesicular exosome
GO:0071320 ISS cellular response to cAMP
GO:1902476 IEA chloride transmembrane transport
GO:1902943 IDA 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
ENSMUSG00000041301 Cftr cystic fibrosis transmembrane conductance regulator protein_coding Mus_musculus

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