Gene Gene information from NCBI Gene database.
Entrez ID 22802
Gene name Chloride channel accessory 4
Gene symbol CLCA4
Synonyms (NCBI Gene)
CaCCCaCC2
Chromosome 1
Chromosome location 1p22.3
Summary 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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616857 2018 ENSG00000016602
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
QSIDSVVEFCNEKTHNQEAPSLQNIKCNFRSTWEVISNSEDFKNTIPMV
TPPPPPVFSLL
KISQRIVCLVLDKSGSMGGKDRLNRMNQAAKHFLLQTVENGSWVGMVHFDSTATIVNKLI
QIKSSDERNTLMAGLPTYPLGGTSICSGIKYAFQVIGELHSQLDGSEVLLLTDGEDNTAS
SCIDEVKQSGAIVHFIALGRAADEAVIEMSKITGGSHFYVSDEAQNNGLIDA
FGALTSGN
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.
  KEGG  Reactome
  Renin secretion
Pancreatic secretion
  Stimuli-sensing channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism Uncertain significance rs377252384 RCV004698579
Cervical cancer Benign rs2231599 RCV005908667
Hepatocellular carcinoma Benign rs2231599 RCV005908666
Associations from Text MiningDisease 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