Gene Gene information from NCBI Gene database.
Entrez ID 9752
Gene name Protocadherin alpha 9
Gene symbol PCDHA9
Synonyms (NCBI Gene)
PCDH-ALPHA9
Chromosome 5
Chromosome location 5q31.3
Summary This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha ge
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT756247 hsa-miR-23a-3p Luciferase reporter assay 37372085
MIRT1216930 hsa-miR-1207-5p CLIP-seq
MIRT1216931 hsa-miR-1273e CLIP-seq
MIRT1216932 hsa-miR-1827 CLIP-seq
MIRT1216933 hsa-miR-2964a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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
606315 8675 ENSG00000204961
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5H5
Protein name Protocadherin alpha-9 (PCDH-alpha-9)
Protein function Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 30 112 Cadherin-like Domain
PF00028 Cadherin 138 233 Cadherin domain Domain
PF00028 Cadherin 247 341 Cadherin domain Domain
PF00028 Cadherin 355 446 Cadherin domain Domain
PF00028 Cadherin 460 556 Cadherin domain Domain
PF00028 Cadherin 582 670 Cadherin domain Domain
PF15974 Cadherin_tail 800 933 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence
MLYSSRGDPEGQPLLLSLLILAMWVVGSGQLHYSVPEEAEHGTFVGRIAQDLGLELAELV
PRLFQLDSKGRGDLLEVNLQNGILFVNSRIDREELCGRSAECSIHLEVIVDR
PLQVFHVD
VEVKDINDNPPVFPATQKNLFIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFFL
DVPTSNQQVKPLGLVLRKLLDREETPELHLLLTATDGGKPELTGTVQLLITVL
DNNDNAP
VFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSG
AITVIGHMDFEESRAHKIPVEAVDKGFPPLAGHCTLLVEVV
DVNDNAPQLTIKTLSVPVK
EDAQLGTVIALISVIDLDADANGQVTCSLTPHVPFKLVSTYKNYYSLVLDRALDRESVSA
YELVVTARDGGSPSLWATARVSVEVA
DVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRLGERSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDA
GVPPLGSNVTLQVFVL
DENDNAPALLTPRMRGTDGAVSEMVLRSVGAGVVVGKVRAVDAD
SGYNAWLSYELQPETASASIPFRVGLYTGEISTTRALDETDAPRQRLLVLVKDHGEPALT
ATATVLVSLV
ESGQAPKSSSRASVGATGPEVTLVDVNVYLIIAICAVSSLLVLTLLLYTV
LRCSAMPTEGECAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEGKQKTDLMAFSPGLSPCA
GSTERTGEPSASSDSTGKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP
TVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNK
TQEKKEKGNSTTDNSDQ
Sequence length 950
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs781801890 RCV004557867
PCDHA9-related disorder Uncertain significance; Likely benign; Benign rs186780543, rs138258410, rs112046100, rs10040059, rs141640003, rs147906609, rs140138948, rs251354, rs17844322, rs251355, rs553750365, rs58792000, rs369639, rs364063, rs17844323
View all (25 more)
RCV003928973
RCV003919203
RCV003894747
RCV003909392
RCV003929713
RCV003929762
RCV003931847
RCV003974438
RCV003974442
RCV003974452
RCV003894238
RCV003974122
RCV003982460
RCV003916815
RCV003967335
RCV003982285
RCV003899438
RCV003899443
RCV003899695
RCV003961729
RCV003917141
RCV003931394
RCV003951377
RCV003951483
RCV003951560
RCV003969256
RCV003969265
RCV003932023
RCV003927385
RCV003978995
RCV003979121
RCV003981900
RCV003981993
RCV003982079
RCV003971466
RCV003978932
RCV003968915
RCV003961879
RCV003972133
RCV003976408
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Myopia Associate 36036911
Refractive Errors Associate 36036911