Gene Gene information from NCBI Gene database.
Entrez ID 5101
Gene name Protocadherin 9
Gene symbol PCDH9
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q21.32
Summary This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved
miRNA miRNA information provided by mirtarbase database.
75
miRTarBase ID miRNA Experiments Reference
MIRT020565 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT053695 hsa-miR-188-5p Microarray 22942087
MIRT449552 hsa-miR-548m PAR-CLIP 22100165
MIRT449551 hsa-miR-548ag PAR-CLIP 22100165
MIRT449550 hsa-miR-548ai PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0007155 Process Cell adhesion IBA
GO:0007155 Process Cell adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603581 8661 ENSG00000184226
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HC56
Protein name Protocadherin-9
Protein function Potential calcium-dependent cell-adhesion protein.
PDB 2EE0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 25 118 Cadherin-like Domain
PF00028 Cadherin 147 243 Cadherin domain Domain
PF00028 Cadherin 257 349 Cadherin domain Domain
PF00028 Cadherin 370 460 Cadherin domain Domain
PF00028 Cadherin 474 563 Cadherin domain Domain
PF00028 Cadherin 577 666 Cadherin domain Domain
PF00028 Cadherin 687 772 Cadherin domain Domain
PF08374 Protocadherin 777 1000 Protocadherin Family
Sequence
MDLRDFYLLAALIACLRLDSAIAQELIYTIREELPENVPIGNIPKDLNISHINAATGTSA
SLVYRLVSKAGDAPLVKVSSSTGEIFTTSNRIDREKLCAGASYAEENECFFELEVVIL
PN
DFFRLIKIKIIVKDTNDNAPMFPSPVINISIPENTLINSRFPIPSATDPDTGFNGVQHYE
LLNGQSVFGLDIVETPEGEKWPQLIVQQNLDREQKDTYVMKIKVEDGGTPQKSSTAILQV
TVS
DVNDNRPVFKEGQVEVHIPENAPVGTSVIQLHATDADIGSNAEIRYIFGAQVAPATK
RLFALNNTTGLITVQRSLDREETAIHKVTVLASDGSSTPARATVTINVT
DVNDNPPNIDL
RYIISPINGTVYLSEKDPVNTKIALITVSDKDTDVNGKVICFIEREVPFHLKAVYDNQYL
LETSSLLDYEGTKEFSFKIVASDSGKPSLNQTALVRVKLE
DENDNPPIFNQPVIELSVSE
NNRRGLYLTTISATDEDSGKNADIVYQLGPNASFFDLDRKTGVLTASRVFDREEQERFIF
TVTARDNGTPPLQSQAAVIVTVL
DENDNSPKFTHNHFQFFVSENLPKYSTVGVITVTDAD
AGENKAVTLSILNDNDNFVLDPYSGVIKSNVSFDREQQSSYTFDVKATDGGQPPRSSTAK
VTINVM
DVNDNSPVVISPPSNTSFKLVPLSAIPGSVVAEVFAVDVDTGMNAELKYTIVSG
NNKGLFRIDPVTGNITLEEKPAPTDVGLHRLVVNISDLGYPKSLHTLVLVFL
YVNDTAGN
ASYIYDLIRRTMETPLDRNIGDSSQPYQNEDYLTIMIAIIAGAMVVIVVIFVTVLVRCRH
ASRFKAAQRSKQGAEWMSPNQENKQNKKKKRKKRKSPKSSLLNFVTIEESKPDDAVHEPI
NGTISLPAELEEQSIGRFDWGPAPPTTFKPNSPDLAKHYKSASPQPAFHLKPDTPVSVKK
HHVIQELPLDNTFVGGCDTLSKRSSTSSDHFSASECSSQG
GFKTKGPLHTRQCNSHSKSD
NIPVTPQKCPSSTGFHIQENEESHYESQRRVTFHLPDGSQESCSDSGLGDHEPVGSGTLI
SHPLPLVQPQDEFYDQASPDKRTEADGNSDPNSDGPLGPRGLAEATEMCTQECLVLGHSD
NCWMPPGLGPYQHPKSPLSTFAPQKEWVKKDKLVNGHTLTRAWKEDSNRNQFNDRKQYGS
NEGHFNNGSHMTDIPLANLKSYKQAGGATESPKEHQL
Sequence length 1237
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Virion - Lassa virus and SFTS virus  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PCDH9-related disorder Uncertain significance; Likely benign rs2502338044, rs1010987405, rs555154692, rs2502330210, rs146006048, rs775537328 RCV003393050
RCV003405827
RCV003404451
RCV003899804
RCV003934757
RCV003983639
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Auditory Neuropathy Autosomal Dominant 1 Associate 19353688
Autism Spectrum Disorder Associate 18252227, 36150388
Autistic Disorder Associate 24204716, 36150388, 39766876
Blast Crisis Associate 33557955
Breast Neoplasms Associate 36936167, 37144994
Carcinoma Hepatocellular Associate 25172662, 28791409
Cerebral Palsy Associate 33557955
Dermatitis Atopic Associate 25935106
Dystonia Associate 33557955
Ehlers Danlos syndrome type 3 Associate 27518164