Gene Gene information from NCBI Gene database.
Entrez ID 54510
Gene name Protocadherin 18
Gene symbol PCDH18
Synonyms (NCBI Gene)
PCDH68L
Chromosome 4
Chromosome location 4q28.3
Summary This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical c
miRNA miRNA information provided by mirtarbase database.
169
miRTarBase ID miRNA Experiments Reference
MIRT1216809 hsa-miR-1271 CLIP-seq
MIRT1216810 hsa-miR-129-5p CLIP-seq
MIRT1216811 hsa-miR-182 CLIP-seq
MIRT1216812 hsa-miR-2054 CLIP-seq
MIRT1216813 hsa-miR-3163 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0007155 Process Cell adhesion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608287 14268 ENSG00000189184
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCL0
Protein name Protocadherin-18
Protein function Potential calcium-dependent cell-adhesion protein.
PDB 6VFR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 29 113 Cadherin-like Domain
PF00028 Cadherin 142 237 Cadherin domain Domain
PF00028 Cadherin 251 345 Cadherin domain Domain
PF00028 Cadherin 367 456 Cadherin domain Domain
PF00028 Cadherin 470 567 Cadherin domain Domain
PF00028 Cadherin 586 676 Cadherin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues, with highest expression in lung and ovary. {ECO:0000269|PubMed:11549318}.
Sequence
MHQMNAKMHFRFVFALLIVSFNHDVLGKNLKYRIYEEQRVGSVIARLSEDVADVLLKLPN
PSTVRFRAMQRGNSPLLVVNEDNGEISIGATIDREQLCQKNLNCSIEFDVITL
PTEHLQL
FHIEVEVLDINDNSPQFSRSLIPIEISESAAVGTRIPLDSAFDPDVGENSLHTYSLSAND
FFNIEVRTRTDGAKYAELIVVRELDRELKSSYELQLTASDMGVPQRSGSSILKISIS
DSN
DNSPAFEQQSYIIQLLENSPVGTLLLDLNATDPDEGANGKIVYSFSSHVSPKIMETFKID
SERGHLTLFKQVDYEITKSYEIDVQAQDLGPNSIPAHCKIIIKVV
DVNDNKPEININLMS
PGKEEISYIFEGDPIDTFVALVRVQDKDSGLNGEIVCKLHGHGHFKLQKTYENNYLILTN
ATLDREKRSEYSLTVIAEDRGTPSLSTVKHFTVQIN
DINDNPPHFQRSRYEFVISENNSP
GAYITTVTATDPDLGENGQVTYTILESFILGSSITTYVTIDPSNGAIYALRIFDHEEVSQ
ITFVVEARDGGSPKQLVSNTTVVLTII
DENDNVPVVIGPALRNNTAEITIPKGAESGFHV
TRIRAIDRDSGVNAELSCAIVAGNEENIFIIDPRSCDIHTNVSMDSVPYTEWELSVIIQD
KGNPQLHTKVLLKCMI
FEYAESVTSTAMTSVSQASLDVSMIIIISLGAICAVLLVIMVLF
ATRCNREKKDTRSYNCRVAESTYQHHPKRPSRQIHKGDITLVPTINGTLPIRSHHRSSPS
SSPTLERGQMGSRQSHNSHQSLNSLVTISSNHVPENFSLELTHATPAVEQVSQLLSMLHQ
GQYQPRPSFRGNKYSRSYRYALQDMDKFSLKDSGRGDSEAGDSDYDLGRDSPIDRLLGEG
FSDLFLTDGRIPAAMRLCTEECRVLGHSDQCWMPPLPSPSSDYRSNMFIPGEEFPTQPQQ
QHPHQSLEDDAQPADSGEKKKSFSTFGKDSPNDEDTGDTSTSSLLSEMSSVFQRLLPPSL
DTYSECSEVDRSNSLERRKGPLPAKTVGYPQGVAAWAASTHFQNPTTNCGPPLGTHSSVQ
PSSKWLPAMEEIPENYEEDDFDNVLNHLNDGKHELMDASELVAEINKLLQDVRQS
Sequence length 1135
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 28588296
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 28588296
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 29888653
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 29888653
★☆☆☆☆
Found in Text Mining only