PCDHA2 (protocadherin alpha 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56146
Gene name Gene Name - the full gene name approved by the HGNC.
Protocadherin alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCDHA2
Synonyms (NCBI Gene) Gene synonyms aliases
PCDH-ALPHA2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT036156 hsa-miR-320c CLASH 23622248
MIRT053672 hsa-miR-181a-5p Microarray 22942087
MIRT053720 hsa-miR-221-3p Microarray 22942087
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 37207277
GO:0005634 Component Nucleus IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606308 8668 ENSG00000204969
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y5H9
Protein name Protocadherin alpha-2 (PCDH-alpha-2)
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 577 → 670 Cadherin domain Domain
PF15974 Cadherin_tail 798 → 931 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence 
MASSIRRGRGAWTRLLSLLLLAAWEVGSGQLRYSVPEEAKHGTFVGRIAQDLGLELEELV
PRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSAECSIHVEVIVDRPLQVFHVE
VEVKDINDNPPIFPMTVKTIRFPESRLLDSRFPLEGASDADIGVNALLSYKLSSSEFFFL
DIQANDELSESLSLVLGKSLDREETAEVNLLLVATDGGKPELTGTVQILIKVLDVNDNEP
TFAQSVYKVKLLENTANGTLVVKLNASDADEGPNSEIVYSLGSDVSSTIQTKFTIDPISG
EIRTKGKLDYEEAKSYEIQVTATDKGTPSMSGHCKISLKLVDINDNTPEVSITSLSLPIS
ENASLGTVIALITVSDRDSGTNGHVTCSLTPHVPFKLVSTFKNYYSLVLDSALDRESVSA
YELVVTARDGGSPSLWATTSVSIEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAW
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEEVELLQFQVSARDA
GVPPLGSNVTLQVFVLDENDNAPALLAPRAGTAAGAVSELVPWSVGAGHVVAKVRAVDAD
SGYNAWLSYELQLGTGSARIPFRVGLYTGEISTTRALDEADSPRHRLLVLVKDHGEPALT
ATATVLVSLVESGQAPKASSRAWVGAAGSEATLVDVNVYLIIAICAVSSLLVLTVLLYTA
LRCSVPPTEGARAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEDPPKTDLMAFSPSLSQGP
DSAEEKQLSESEYVGKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV
SSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQE
PTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ
Sequence length 948
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Tremor Essential tremor N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 36204642
Myopia Associate 36036911