CLCA4 (chloride channel accessory 4)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22802
Gene name Gene Name - the full gene name approved by the HGNC.
Chloride channel accessory 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLCA4
Synonyms (NCBI Gene) Gene synonyms aliases
CaCC, CaCC2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT018387 hsa-miR-335-5p Microarray 18185580
MIRT022037 hsa-miR-128-3p Microarray 17612493
MIRT894411 hsa-miR-4328 CLIP-seq
MIRT894412 hsa-miR-4645-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IBA
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IEA
GO:0005254 Function Chloride channel activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616857 2018 ENSG00000016602
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q14CN2
Protein name Calcium-activated chloride channel regulator 4 (EC 3.4.-.-) (Calcium-activated chloride channel family member 4) (hCLCA4) (Calcium-activated chloride channel protein 2) (CaCC-2) (hCaCC-2) (Chloride channel accessory 4) [Cleaved into: Calcium-activated chl
Protein function May be involved in mediating calcium-activated chloride conductance.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08434 CLCA 24 → 289 Calcium-activated chloride channel N terminal Family
PF00092 VWA 307 → 472 von Willebrand factor type A domain Domain
Tissue specificity TISSUE SPECIFICITY: Primarily expressed in the digestive tract, mainly in colon. Detected in smaller amounts in brain, urogenital organs, testis, and salivary and mammary glands. Highly expressed in the epithelial layer and submucosal gland of the inferio
Sequence 
MGLFRGFVFLLVLCLLHQSNTSFIKLNNNGFEDIVIVIDPSVPEDEKIIEQIEDMVTTAS
TYLFEATEKRFFFKNVSILIPENWKENPQYKRPKHENHKHADVIVAPPTLPGRDEPYTKQ
FTECGEKGEYIHFTPDLLLGKKQNEYGPPGKLFVHEWAHLRWGVFDEYNEDQPFYRAKSK
KIEATRCSAGISGRNRVYKCQGGSCLSRACRIDSTTKLYGKDCQFFPDKVQTEKASIMFM
QSIDSVVEFCNEKTHNQEAPSLQNIKCNFRSTWEVISNSEDFKNTIPMVTPPPPPVFSLL
KISQRIVCLVLDKSGSMGGKDRLNRMNQAAKHFLLQTVENGSWVGMVHFDSTATIVNKLI
QIKSSDERNTLMAGLPTYPLGGTSICSGIKYAFQVIGELHSQLDGSEVLLLTDGEDNTAS
SCIDEVKQSGAIVHFIALGRAADEAVIEMSKITGGSHFYVSDEAQNNGLIDAFGALTSGN
TDLSQKSLQLESKGLTLNSNAWMNDTVIIDSTVGKDTFFLITWNSLPPSISLWDPSGTIM
ENFTVDATSKMAYLSIPGTAKVGTWAYNLQAKANPETLTITVTSRAANSSVPPITVNAKM
NKDVNSFPSPMIVYAEILQGYVPVLGANVTAFIESQNGHTEVLELLDNGAGADSFKNDGV
YSRYFTAYTENGRYSLKVRAHGGANTARLKLRPPLNRAAYIPGWVVNGEIEANPPRPEID
EDTQTTLEDFSRTASGGAFVVSQVPSLPLPDQYPPSQITDLDATVHEDKIILTWTAPGDN
FDVGKVQRYIIRISASILDLRDSFDDALQVNTTDLSPKEANSKESFAFKPENISEENATH
IFIAIKSIDKSNLTSKVSNIAQVTLFIPQANPDDIDPTPTPTPTPTPDKSHNSGVNISTL
VLSVIGSVVIVNFILSTTI
Sequence length 919
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Renin secretion
Pancreatic secretion 		  Stimuli-sensing channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cystic Fibrosis cystic fibrosis N/A N/A GenCC
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 34477243
Anodontia Associate 32773719
Azoospermia Associate 30887952
Breast Neoplasms Inhibit 24386311
Colonic Neoplasms Associate 36532007
Colorectal Neoplasms Inhibit 23593331, 31137244, 35266369
Colorectal Neoplasms Associate 31164625, 32462020, 32773719, 32797167, 36991484
Cystic Fibrosis Associate 23073314
Epilepsy Familial Mesial Temporal Lobe Associate 28276448
Infertility Male Associate 23579007, 30887952, 32860660