Human Gene CLIC5 (ENST00000339561.12_7) from GENCODE V47lift37
  Description: chloride intracellular channel 5, transcript variant 2 (from RefSeq NM_016929.5)
Gencode Transcript: ENST00000339561.12_7
Gencode Gene: ENSG00000112782.19_11
Transcript (Including UTRs)
   Position: hg19 chr6:45,866,193-45,983,597 Size: 117,405 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr6:45,870,825-45,983,279 Size: 112,455 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:45,866,193-45,983,597)mRNA (may differ from genome)Protein (251 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CLIC5_HUMAN
DESCRIPTION: RecName: Full=Chloride intracellular channel protein 5;
FUNCTION: Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture.
SUBUNIT: Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin, alpha-actinin, gelsolin, and IQGAP1. Interacts with AKAP9.
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Membrane; Single-pass membrane protein. Note=Associates with the cortical actin cytoskeleton. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity).
SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus. Cytoplasm, cytoskeleton, centrosome. Membrane; Single-pass membrane protein. Note=Colocalized with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). Colocalized with podocalyxin in renal glomeruli.
TISSUE SPECIFICITY: Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level).
DOMAIN: Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity).
SIMILARITY: Belongs to the chloride channel CLIC family.
SIMILARITY: Contains 1 GST C-terminal domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CLIC5
Diseases sorted by gene-association score: deafness, autosomal recessive 103* (969), autosomal recessive non-syndromic sensorineural deafness type dfnb* (59)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.69 RPKM in Muscle - Skeletal
Total median expression: 80.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -132.90318-0.418 Picture PostScript Text
3' UTR -1370.274632-0.296 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010987 - Glutathione-S-Trfase_C-like
IPR017933 - Glutathione_S_Trfase/Cl_chnl_C
IPR002946 - Int_Cl_channel
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF13409 - Glutathione S-transferase, N-terminal domain
PF13410 - Glutathione S-transferase, C-terminal domain
PF13417 - Glutathione S-transferase, N-terminal domain

SCOP Domains:
47616 - GST C-terminal domain-like
52833 - Thioredoxin-like

ModBase Predicted Comparative 3D Structure on Q9NZA1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005244 voltage-gated ion channel activity
GO:0005254 chloride channel activity
GO:0005515 protein binding
GO:0004364 glutathione transferase activity

Biological Process:
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007565 female pregnancy
GO:0007605 sensory perception of sound
GO:0034765 regulation of ion transmembrane transport
GO:0060088 auditory receptor cell stereocilium organization
GO:1902476 chloride transmembrane transport
GO:0006749 glutathione metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0005938 cell cortex
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034707 chloride channel complex
GO:0070062 extracellular exosome
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  DQ679794 - Homo sapiens chloride intracellular channel 5A (CLIC5) mRNA, complete cds.
AK097048 - Homo sapiens cDNA FLJ39729 fis, clone SMINT2015454, highly similar to Chloride intracellular channel protein 5.
AF216941 - Homo sapiens CLIC5 mRNA, complete cds.
AK075163 - Homo sapiens cDNA FLJ90682 fis, clone PLACE1005878, highly similar to Chloride intracellular channel protein 5.
BC035968 - Homo sapiens chloride intracellular channel 5, mRNA (cDNA clone MGC:32580 IMAGE:4611102), complete cds.
AF176920 - Homo sapiens MSTP130 (MST130) mRNA, complete cds.
AK223130 - Homo sapiens mRNA for chloride intracellular channel 5 variant, clone: KDN00619.
AK222544 - Homo sapiens mRNA for chloride intracellular channel 5 variant, clone: adSU01963.
AK314416 - Homo sapiens cDNA, FLJ95199, highly similar to Homo sapiens chloride intracellular channel 5 (CLIC5), mRNA.
AY032602 - Homo sapiens CLIC5B mRNA, complete cds.
CU690236 - Synthetic construct Homo sapiens gateway clone IMAGE:100022105 5' read CLIC5 mRNA.
KJ893996 - Synthetic construct Homo sapiens clone ccsbBroadEn_03390 CLIC5 gene, encodes complete protein.
DQ892643 - Synthetic construct clone IMAGE:100005273; FLH188574.01X; RZPDo839D1073D chloride intracellular channel 5 (CLIC5) gene, encodes complete protein.
DQ895881 - Synthetic construct Homo sapiens clone IMAGE:100010341; FLH188570.01L; RZPDo839D1063D chloride intracellular channel 5 (CLIC5) gene, encodes complete protein.
AJ420547 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1580150.
BC020923 - Homo sapiens chloride intracellular channel 5, mRNA (cDNA clone IMAGE:4247459), complete cds.
AL049313 - Homo sapiens mRNA; cDNA DKFZp564B076 (from clone DKFZp564B076).
AK025350 - Homo sapiens cDNA: FLJ21697 fis, clone COL09740.
AF086005 - Homo sapiens full length insert cDNA clone YU66D06.
KJ906188 - Synthetic construct Homo sapiens clone ccsbBroadEn_15858 CLIC5 gene, encodes complete protein.
JD096870 - Sequence 77894 from Patent EP1572962.
JD429685 - Sequence 410709 from Patent EP1572962.
JD354837 - Sequence 335861 from Patent EP1572962.
JD225218 - Sequence 206242 from Patent EP1572962.
JD536985 - Sequence 518009 from Patent EP1572962.
JD465198 - Sequence 446222 from Patent EP1572962.
JD554650 - Sequence 535674 from Patent EP1572962.
JD204177 - Sequence 185201 from Patent EP1572962.
JD181442 - Sequence 162466 from Patent EP1572962.
JD480977 - Sequence 462001 from Patent EP1572962.
JD181147 - Sequence 162171 from Patent EP1572962.
JD206338 - Sequence 187362 from Patent EP1572962.
JD207341 - Sequence 188365 from Patent EP1572962.
JD550886 - Sequence 531910 from Patent EP1572962.
JD527336 - Sequence 508360 from Patent EP1572962.
JD124254 - Sequence 105278 from Patent EP1572962.
JD551129 - Sequence 532153 from Patent EP1572962.
JD188171 - Sequence 169195 from Patent EP1572962.
JD394890 - Sequence 375914 from Patent EP1572962.
JD067659 - Sequence 48683 from Patent EP1572962.
JD273091 - Sequence 254115 from Patent EP1572962.
JD084304 - Sequence 65328 from Patent EP1572962.
JD248782 - Sequence 229806 from Patent EP1572962.
JD518263 - Sequence 499287 from Patent EP1572962.
JD330077 - Sequence 311101 from Patent EP1572962.
JD390266 - Sequence 371290 from Patent EP1572962.
JD406265 - Sequence 387289 from Patent EP1572962.
BC039380 - Homo sapiens chloride intracellular channel 5, mRNA (cDNA clone IMAGE:5271797), complete cds.
AK075144 - Homo sapiens cDNA FLJ90663 fis, clone PLACE1005031, highly similar to Chloride intracellular channel protein 5.
JD394412 - Sequence 375436 from Patent EP1572962.
JD389960 - Sequence 370984 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KUF1, CLIC5_HUMAN, ENST00000339561.1, ENST00000339561.10, ENST00000339561.11, ENST00000339561.2, ENST00000339561.3, ENST00000339561.4, ENST00000339561.5, ENST00000339561.6, ENST00000339561.7, ENST00000339561.8, ENST00000339561.9, NM_016929, Q5T4Z0, Q8NBY3, Q96JT5, Q9BWZ0, Q9NZA1, uc317vjz.1, uc317vjz.2
UCSC ID: ENST00000339561.12_7
RefSeq Accession: NM_016929.5
Protein: Q9NZA1 (aka CLIC5_HUMAN or CLI5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.