Gene Gene information from NCBI Gene database.
Entrez ID 23155
Gene name Chloride channel CLIC like 1
Gene symbol CLCC1
Synonyms (NCBI Gene)
ERAC1MCLCRP32
Chromosome 1
Chromosome location 1p13.3
miRNA miRNA information provided by mirtarbase database.
637
miRTarBase ID miRNA Experiments Reference
MIRT051331 hsa-miR-15a-5p CLASH 23622248
MIRT040015 hsa-miR-615-3p CLASH 23622248
MIRT704670 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT704669 hsa-miR-890 HITS-CLIP 23313552
MIRT704668 hsa-miR-6808-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005254 Function Chloride channel activity IBA
GO:0005254 Function Chloride channel activity IDA 37142673
GO:0005254 Function Chloride channel activity IEA
GO:0005515 Function Protein binding IPI 31653868, 33961781
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617539 29675 ENSG00000121940
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96S66
Protein name Chloride channel CLIC-like protein 1 (ER anion channel 1) (ERAC1) (Mid-1-related chloride channel protein)
Protein function Anion-selective channel with Ca(2+)-dependent and voltage-independent gating. Permeable to small monovalent anions with selectivity for bromide > chloride > nitrate > fluoride (By similarity). Operates in the endoplasmic reticulum (ER) membrane
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05934 MCLC 3 551 Mid-1-related chloride channel (MCLC) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina of the eye, with extensive expression in the lamina cribrosa, optic nerve, ganglion cell layer, inner nuclear layer, outer nuclear layer and retinal pigment epithelium. {ECO:0000269|PubMed:30157172}.
Sequence
Sequence length 551
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Retinal dystrophy Likely pathogenic; Pathogenic rs750180668 RCV004794519
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 32 Likely pathogenic; Pathogenic rs750180668 RCV001248856
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHUDLEY-MCCULLOUGH SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Amyotrophic Lateral Sclerosis Associate 37916886
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 35768804
★☆☆☆☆
Found in Text Mining only
Liver Neoplasms Associate 37916886
★☆☆☆☆
Found in Text Mining only
Retinal Diseases Associate 38621504
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa Associate 38621504
★★☆☆☆
Found in Text Mining + Unknown/Other Associations