Gene Gene information from NCBI Gene database.
Entrez ID 56142
Gene name Protocadherin alpha 6
Gene symbol PCDHA6
Synonyms (NCBI Gene)
CNR2CNRN2CNRS2CRNR2PCDH-ALPHA6
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.
149
miRTarBase ID miRNA Experiments Reference
MIRT028979 hsa-miR-26b-5p Microarray 19088304
MIRT053676 hsa-miR-181a-5p Microarray 22942087
MIRT053711 hsa-miR-221-3p Microarray 22942087
MIRT637159 hsa-miR-6890-3p HITS-CLIP 19536157
MIRT637158 hsa-miR-6823-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 10380929
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606312 8672 ENSG00000081842
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UN73
Protein name Protocadherin alpha-6 (PCDH-alpha-6)
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 800 933 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence
MVFTPEDRLGKQCLLLPLLLLAAWKVGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELV
PRLFRMASKDREDLLEVNLQNGILFVNSRIDREELCGRSAECSIHLEVIVDR
PLQVFHVD
VEVRDINDNPPLFPVEEQRVLIYESRLPDSVFPLEGASDADVGSNSILTYKLSSSEYFGL
DVKINSDDNKQIGLLLKKSLDREEAPAHNLFLTATDGGKPELTGTVQLLVTVL
DVNDNAP
TFEQSEYEVRIFENADNGTTVIRLNASDRDEGANGAISYSFNSLVAAMVIDHFSIDRNTG
EIVIRGNLDFEQENLYKILIDATDKGHPPMAGHCTVLVRIL
DKNDNVPEIALTSLSLPVR
EDAQFGTVIALISVNDLDSGANGQVNCSLTPHVPFKLVSTFKNYYSLVLDSALDRESVSA
YELVVTARDGGSPSLWATASLSVEVA
DMNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRVGERALSSYISVHAESGKVYALQPLDHEELELLQFQVSARDA
GVPPLGSNVTLQVFVL
DENDNAPALLAPRVGGTGGAVSELVPRSLGAGQVVAKVRAVDAD
SGYNAWLSYELQPPASSARFPFRVGLYTGEISTTRVLDEADSPRHRLLVLVKDHGEPALT
ATATVLVSLV
ESGQAPKASSRASVGAAGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSAPPTEGACTADKPTLVCSSAVGSWSYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCP
IMMGKAENQDLNEDHDAKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP
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.).
5
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
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Myopia Associate 36036911
★☆☆☆☆
Found in Text Mining only