PCDHA3 (protocadherin alpha 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 56145
Gene name Protocadherin alpha 3
Gene symbol PCDHA3
Synonyms (NCBI Gene)
PCDH-ALPHA3
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.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT053673 hsa-miR-181a-5p Microarray 22942087
MIRT053721 hsa-miR-221-3p Microarray 22942087
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
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:0005886 Component Plasma membrane TAS 10380929
GO:0007155 Process Cell adhesion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606309 8669 ENSG00000255408
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5H8
Protein name Protocadherin alpha-3 (PCDH-alpha-3)
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 356 → 446 Cadherin domain Domain
PF00028 Cadherin 460 → 556 Cadherin domain Domain
PF00028 Cadherin 578 → 670 Cadherin domain Domain
PF15974 Cadherin_tail 800 → 933 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence 
MLFSWREDPGAQCLLLSLLLLAASEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELV
PRLFRVASKRHGDLLEVNLQNGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVE
VEVKDINDNAPVFPMAVKNLFISESRQPGSRFSLEGASDADIGTNSLLTYSLDSTEYFTL
DVKRNDEEIKSLGLVLKKNLNREDTPKHYLLITAIDGGKPELTGTTQLKITVLDVNDNAP
AFERTIYKVRLLENAPNGTLVVTVNATDLDEGVNKDIAYSFNTDMSADILSKFHLDPVNG
QISVKGNIDFEESKSYEIQVEATDKGNPPMSDHCTVLLEIVDINDNVPELVIQSLSLPVL
EDSPLSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVSTFKNYYSLVLDSPLDRESVSA
YELVVTARDGGSPSLWATASVSVEVADVNDNAPAFSQSEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDA
GVPPLGSNVTLQVFVLDENDNAPALLMPRVGGIGGAVSELVPRSVGAGHVVAKVRAVDAD
SGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDEVDAPRHRLLVLVKDHGEPSLT
ATATVLVSLVESGQAPKASSQASAGATGPEAALVDVNVYLIVAICAVSSLLVLTLLLYTA
LRCSAPPTEGDCGPGKPTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCP
ISRDREEKQDVDVDLSAKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP
TVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ
Sequence length 950
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PCDHA3-related disorder Likely benign; Uncertain significance; Benign rs114741177, rs147415938, rs2240694, rs1198183048, rs3733707, rs151289883, rs17844261, rs251382, rs3733708, rs3733709, rs61735497, rs138150756, rs61730634, rs141385563, rs149374718
View all (7 more)		 RCV003929143
RCV003923834
RCV003974346
RCV003904190
RCV003979581
RCV003911928
RCV003912262
RCV003916917
RCV003982296
RCV003984476
RCV003914096
RCV003914547
RCV003939383
RCV003951380
RCV003954735
RCV003932111
RCV003964323
RCV003982182
RCV003957166
RCV003978968
RCV003981307
RCV003913279
Variant of unknown significance Uncertain significance rs587776956 RCV000034872
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Myopia Associate 36036911