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Aliases for CLCC1 Gene
Aliases for CLCC1 Gene
External Ids for CLCC1 Gene
- HGNC: 29675
- Entrez Gene: 23155
- Ensembl: ENSG00000121940
- OMIM: 617539
- UniProtKB: Q96S66
Previous GeneCards Identifiers for CLCC1 Gene
- GC01M109185
- GC01M108820
- GC01M109472
- GC01M107364
Summaries for CLCC1 Gene
GeneCards Summary for CLCC1 Gene
CLCC1 (Chloride Channel CLIC Like 1) is a Protein Coding gene. Diseases associated with CLCC1 include Chudley-Mccullough Syndrome and Retinitis Pigmentosa. Gene Ontology (GO) annotations related to this gene include chloride channel activity.
UniProtKB/Swiss-Prot Summary for CLCC1 Gene
-
Seems to act as a chloride ion channel.
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLCC1 Gene
Genomics for CLCC1 Gene
GeneHancer (GH) Regulatory Elements for CLCC1 Gene
Promoters and enhancers for CLCC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CLCC1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CLCC1 gene promoter:
-
- ER-alpha
- GR
- GR-alpha
- GR-beta
- Hlf
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
Genomic Locations for CLCC1 Gene
Genomic Locations for CLCC1 Gene
- chr1:108,929,508-108,963,499
- (GRCh38/hg38)
- Size:
- 33,992 bases
- Orientation:
- Minus strand
- chr1:109,472,130-109,506,111
- (GRCh37/hg19)
- Size:
- 33,982 bases
- Orientation:
- Minus strand
Genomic View for CLCC1 Gene
Genes around CLCC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.3 by HGNC
- 1p13.3 by Entrez Gene
- 1p13.3 by Ensembl
CLCC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CLCC1 Gene
Proteins for CLCC1 Gene
-
Protein details for CLCC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96S66-CLCC1_HUMAN
- Recommended name:
- Chloride channel CLIC-like protein 1
- Protein Accession:
- Q96S66
- O94861
- Q8WYP8
- Q8WYP9
- Q9BU25
Protein attributes for CLCC1 Gene
- Size:
- 551 amino acids
- Molecular mass:
- 62023 Da
- Quaternary structure:
- No Data Available
Protein Expression for CLCC1 Gene
Post-translational modifications for CLCC1 Gene
Other Protein References for CLCC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CLCC1 Antibody
- Atlas Antibodies Anti-CLCC1 Antibody (HPA009087) and Anti-CLCC1 Antibody (HPA013210)
- Creative Diagnostics Anti-CLCC1 monoclonal antibody and Anti-CLCC1 (internal region) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for CLCC1
- Novus Biologicals Antibodies for CLCC1
- Invitrogen Antibodies for CLCC1 (AFLGC-CLCC1)
-
Biorbyt antibodies for CLCC1
-
Boster Bio Antibodies for CLCC1
Protein Products
- Atlas Antibodies PrEST Antigen CLCC1 (APrEST71867) and PrEST Antigen CLCC1 (APrEST71866)
- Creative Biomart Recombinant Human CLCC1 293 Cell Lysate
-
OriGene Purified Proteins for CLCC1
- Search Origene for MassSpec and Protein Over-expression Lysates for CLCC1
- Origene Custom Protein Services for CLCC1
- antibodies-online: Show 4 available CLCC1 Proteins ranked by validation data
- Compare Top CLCC1 Proteins
-
Quality Products:
-
Abcam proteins for CLCC1
Assay Products
- antibodies-online: Show 7 available CLCC1 Elisa Kits ranked by validation data
- Compare Top CLCC1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CLCC1 Gene
Domains & Families for CLCC1 Gene
Gene Families for CLCC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Protein Domains for CLCC1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CLCC1 Gene
- GenScript: Design optimal peptide antigens:
-
- Mid-1-related chloride channel protein 1 (CLCC1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96S66- Family:
-
- Belongs to the chloride channel MCLC family.
Function for CLCC1 Gene
Molecular function for CLCC1 Gene
- UniProtKB/Swiss-Prot Function:
- Seems to act as a chloride ion channel.
Phenotypes From GWAS Catalog for CLCC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005254 | chloride channel activity | IBA | 21873635 |
Phenotypes for CLCC1 Gene
- MGI mutant phenotypes for CLCC1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CLCC1:
Animal Models for CLCC1 Gene
- MGI Knock Outs for CLCC1:
-
- Clcc1 Clcc1<tm1b(KOMP)Mbp>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for CLCC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCC1
- genomics-online: gRNA clones - Search results for available CLCC1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CLCC1 - Select products 50% OFF >
- * CLCC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CLCC1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCC1
miRNA for CLCC1 Gene
- miRTarBase miRNAs that target CLCC1
-
- hsa-mir-615-3p (MIRT040015)
- hsa-mir-15a-5p (MIRT051331)
- hsa-mir-6516-5p (MIRT479206)
- hsa-mir-455-3p (MIRT479207)
- hsa-mir-6880-5p (MIRT479208)
- hsa-mir-6499-3p (MIRT479209)
- hsa-mir-508-3p (MIRT479210)
- hsa-mir-6086 (MIRT479211)
- hsa-mir-377-5p (MIRT479212)
- hsa-mir-4537 (MIRT479213)
- hsa-mir-5186 (MIRT479214)
- hsa-mir-3192-5p (MIRT479215)
- hsa-mir-7851-3p (MIRT479216)
- hsa-mir-490-3p (MIRT479217)
- hsa-mir-7856-5p (MIRT529136)
- hsa-mir-3658 (MIRT529137)
- hsa-mir-548s (MIRT529138)
- hsa-mir-3926 (MIRT529139)
- hsa-mir-6128 (MIRT529140)
- hsa-mir-4307 (MIRT529141)
- hsa-mir-619-3p (MIRT529142)
- hsa-mir-323a-3p (MIRT529143)
- hsa-mir-33a-3p (MIRT529144)
- hsa-mir-5197-5p (MIRT529145)
- hsa-mir-649 (MIRT529146)
- hsa-mir-6864-3p (MIRT704632)
- hsa-mir-3672 (MIRT704633)
- hsa-mir-769-5p (MIRT704634)
- hsa-mir-4786-5p (MIRT704635)
- hsa-mir-3190-5p (MIRT704636)
- hsa-mir-6849-3p (MIRT704637)
- hsa-mir-665 (MIRT704638)
- hsa-mir-887-5p (MIRT704639)
- hsa-mir-6780a-5p (MIRT704640)
- hsa-mir-6779-5p (MIRT704641)
- hsa-mir-3689c (MIRT704642)
- hsa-mir-3689b-3p (MIRT704643)
- hsa-mir-3689a-3p (MIRT704644)
- hsa-mir-30b-3p (MIRT704645)
- hsa-mir-1273h-5p (MIRT704646)
- hsa-mir-6788-5p (MIRT704647)
- hsa-mir-30c-2-3p (MIRT704648)
- hsa-mir-30c-1-3p (MIRT704649)
- hsa-mir-6799-5p (MIRT704650)
- hsa-mir-6883-5p (MIRT704651)
- hsa-mir-6785-5p (MIRT704652)
- hsa-mir-4728-5p (MIRT704653)
- hsa-mir-149-3p (MIRT704654)
- hsa-mir-7106-5p (MIRT704655)
- hsa-mir-7160-5p (MIRT704656)
- hsa-mir-6884-5p (MIRT704657)
- hsa-mir-485-5p (MIRT704658)
- hsa-mir-4768-3p (MIRT704659)
- hsa-mir-5690 (MIRT704660)
- hsa-mir-6500-3p (MIRT704661)
- hsa-mir-3614-5p (MIRT704662)
- hsa-mir-4478 (MIRT704663)
- hsa-mir-4419b (MIRT704664)
- hsa-mir-3929 (MIRT704665)
- hsa-mir-940 (MIRT704666)
- hsa-mir-6893-5p (MIRT704667)
- hsa-mir-6808-5p (MIRT704668)
- hsa-mir-890 (MIRT704669)
- hsa-mir-34b-3p (MIRT704670)
- hsa-mir-30e-5p (MIRT727976)
- hsa-mir-30d-5p (MIRT727977)
- hsa-mir-30c-5p (MIRT727978)
- hsa-mir-30a-5p (MIRT727979)
- hsa-mir-30b-5p (MIRT727980)
- hsa-mir-181d-5p (MIRT727981)
- hsa-mir-181c-5p (MIRT727982)
- hsa-mir-181b-5p (MIRT727983)
- hsa-mir-181a-5p (MIRT727984)
- hsa-mir-3675-3p (MIRT766668)
- hsa-mir-4293 (MIRT768421)
- hsa-mir-4684-5p (MIRT770987)
- hsa-mir-6771-3p (MIRT778611)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CLCC1
- Browse OriGene Inhibitory RNA Products For CLCC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCC1
- genomics-online: shRNA clones - Search results for available CLCC1 gene related products
Clone Products
-
- MG208623
- MG219904
- MG219911
- MR208623
- MR208623L3
- MR208623L3V
- MR208623L4
- MR208623L4V
- MR219904
- MR219904L3
- MR219904L3V
- MR219904L4
- MR219904L4V
- MR219911
- MR219911L3
- MR219911L3V
- MR219911L4
- MR219911L4V
- RC202649
- RC202649L1
- RC202649L1V
- RC202649L2
- RC202649L2V
- RC202649L3
- RC202649L3V
- RC202649L4
- RC202649L4V
- RC213260
- RC213260L1
- RC213260L1V
- RC213260L2
- RC213260L2V
- RC213260L3
- RC213260L3V
- RC213260L4
- RC213260L4V
- RC237752
- RC238182
- RG202649
- RG213260
- RR203798
- RR203798L3
- RR203798L3V
- RR203798L4
- RR203798L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CLCC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCC1
- genomics-online: cdna clones - Search results for available CLCC1 gene related products
- orf clones - Search results for available CLCC1 gene related products
- Applied Biological Materials (abm): Clones for CLCC1 - Select products 50% OFF >
- * CLCC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CLCC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for CLCC1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLCC1 Gene
Localization for CLCC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CLCC1 Gene
- Membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Nucleus.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| nucleus | 3 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
- Endoplasmic reticulum (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IDA,IBA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for CLCC1 Gene
Interacting Proteins for CLCC1 Gene
GPS-Prot Interaction Network for CLCC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006821 | chloride transport | IEA | -- |
| GO:1902476 | chloride transmembrane transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CLCC1 Gene
Drugs & Compounds for CLCC1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Chloride ion | Experimental | Pharma | 0 |
Drug Products
- Atlas Antibodies PrEST Antigen CLCC1 (APrEST71867) and PrEST Antigen CLCC1 (APrEST71866)
- Creative Biomart Recombinant Human CLCC1 293 Cell Lysate
Transcripts for CLCC1 Gene
mRNA/cDNA for CLCC1 Gene
- (4) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (140) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000356970 4803 bps (ENST00000356970.6)
- ENST00000473062 319 bps (ENST00000473062.1)
- ENST00000369976 2468 bps (ENST00000369976.5)
- ENST00000482889 752 bps (ENST00000482889.1)
- ENST00000369970 2078 bps (ENST00000369970.7)
CRISPR Products
-
OriGene CRISPR knockouts for CLCC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCC1
- genomics-online: gRNA clones - Search results for available CLCC1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CLCC1 - Select products 50% OFF >
- * CLCC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CLCC1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCC1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CLCC1
- Browse OriGene Inhibitory RNA Products For CLCC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCC1
- genomics-online: shRNA clones - Search results for available CLCC1 gene related products
Clone Products
-
- MG208623
- MG219904
- MG219911
- MR208623
- MR208623L3
- MR208623L3V
- MR208623L4
- MR208623L4V
- MR219904
- MR219904L3
- MR219904L3V
- MR219904L4
- MR219904L4V
- MR219911
- MR219911L3
- MR219911L3V
- MR219911L4
- MR219911L4V
- RC202649
- RC202649L1
- RC202649L1V
- RC202649L2
- RC202649L2V
- RC202649L3
- RC202649L3V
- RC202649L4
- RC202649L4V
- RC213260
- RC213260L1
- RC213260L1V
- RC213260L2
- RC213260L2V
- RC213260L3
- RC213260L3V
- RC213260L4
- RC213260L4V
- RC237752
- RC238182
- RG202649
- RG213260
- RR203798
- RR203798L3
- RR203798L3V
- RR203798L4
- RR203798L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CLCC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCC1
- genomics-online: cdna clones - Search results for available CLCC1 gene related products
- orf clones - Search results for available CLCC1 gene related products
- Applied Biological Materials (abm): Clones for CLCC1 - Select products 50% OFF >
- * CLCC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CLCC1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP9: |
Expression for CLCC1 Gene
This gene is overexpressed in Breast (51.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLCC1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CLCC1 Gene:
CLCC1SOURCE GeneReport for Unigene cluster for CLCC1 Gene:
Hs.658489Evidence on tissue expression from TISSUES for CLCC1 Gene
- Nervous system(4.4)
- Liver(4.3)
- Skin(4.2)
Primer Products
-
OriGene qPCR primer pairs for CLCC1
-
OriGene qPCR primer pairs and template standards for CLCC1
- genomics-online: primer clones - Search results for available CLCC1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCC1 Gene
Orthologs for CLCC1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CLCC1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CLCC1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CLCC1 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Clcc1 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Clcc1 17 33 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | CLCC1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CLCC1 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | clcc1 32 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397947 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100332460 32 |
|
||
| CLCC1 33 |
|
OneToOne |
- Species where no ortholog for CLCC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for CLCC1 Gene
- ENSEMBL:
- Gene Tree for CLCC1 (if available)
- TreeFam:
- Gene Tree for CLCC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CLCC1: view image
Paralogs for CLCC1 Gene
No data available for Paralogs for CLCC1 Gene
Variants for CLCC1 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1051868 | likely-benign, Nonsyndromic Hearing Loss, Recessive | 108,930,151(-) | G/A | 3_prime_UTR_variant | |
| rs10607 | likely-benign, Nonsyndromic Hearing Loss, Recessive | 108,930,395(-) | C/T | 3_prime_UTR_variant | |
| rs12030 | likely-benign, Nonsyndromic Hearing Loss, Recessive | 108,930,191(-) | T/C | 3_prime_UTR_variant | |
| rs138132875 | benign-likely-benign, not specified | 108,929,693(-) | A/G | 3_prime_UTR_variant | |
| rs140949805 | benign-likely-benign, uncertain-significance, not specified, not provided | 108,929,928(-) | G/A | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv15n21 | CNV | gain | 19592680 |
| dgv251n100 | CNV | loss | 25217958 |
| esv2421924 | CNV | deletion | 20811451 |
| esv24963 | CNV | loss | 19812545 |
| esv2662481 | CNV | deletion | 23128226 |
| esv2715940 | CNV | deletion | 23290073 |
| esv2760082 | CNV | loss | 21179565 |
| esv3567237 | CNV | deletion | 23714750 |
| esv3587142 | CNV | loss | 21293372 |
| esv3587143 | CNV | loss | 21293372 |
| nsv1137793 | CNV | deletion | 24896259 |
| nsv437236 | CNV | loss | 16327808 |
| nsv441708 | CNV | loss | 18776908 |
| nsv514000 | CNV | loss | 21397061 |
| nsv526049 | CNV | loss | 19592680 |
| nsv547425 | CNV | gain | 21841781 |
| nsv831026 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
54.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.51;
77.69% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CLCC1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CLCC1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCC1 Gene
Disorders for CLCC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chudley-mccullough syndrome |
|
|
| retinitis pigmentosa |
|
|
Search CLCC1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CLCC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CLCC1 Gene
Publications for CLCC1 Gene
- Identification of a novel chloride channel expressed in the endoplasmic reticulum, golgi apparatus, and nucleus. (PMID: 11279057) Nagasawa M … Kojima I (The Journal of biological chemistry 2001) 2 3 4 23 56
- Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
- Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 43 56
- An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56
- Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. (PMID: 30157172) Li L … Hejtmancik JF (PLoS genetics 2018) 3 56
ExternalLinks
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