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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
AMYOTROPHIC LATERAL SCLEROSIS Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Coronary heart disease Coronary Heart Disease BEFREE 28530678
★☆☆☆☆
Found in Text Mining only
Heart valve disease Cardiac valvular disease CTD_human_DG 28530678
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease Hirschsprung Disease BEFREE 29477871
★☆☆☆☆
Found in Text Mining only
Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome CTD_human_DG 28530678
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOPLASTIC LEFT HEART SYNDROME 1 Hypoplastic Left Heart Syndrome BEFREE 28530678, 29569026
★☆☆☆☆
Found in Text Mining only
Myopia Myopia Pubtator 36036911 Associate
★☆☆☆☆
Found in Text Mining only