PCDHGA2 (protocadherin gamma subfamily A, 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 56113
Gene name Protocadherin gamma subfamily A, 2
Gene symbol PCDHGA2
Synonyms (NCBI Gene)
PCDH-GAMMA-A2
Chromosome 5
Chromosome location 5q31.3
Summary This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regul
miRNA miRNA information provided by mirtarbase database.
2
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miRTarBase ID miRNA Experiments Reference
MIRT018412 hsa-miR-335-5p Microarray 18185580
MIRT021563 hsa-miR-142-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9 Show/Hide all (9)
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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.
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MIM HGNC e!Ensembl
606289 8700 ENSG00000081853
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5H1
Protein name Protocadherin gamma-A2 (PCDH-gamma-A2)
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
PF00028 Cadherin 247 → 338 Cadherin domain Domain
PF00028 Cadherin 457 → 553 Cadherin domain Domain
PF00028 Cadherin 578 → 665 Cadherin domain Domain
PF00028 Cadherin 352 → 443 Cadherin domain Domain
PF00028 Cadherin 138 → 233 Cadherin domain Domain
PF08266 Cadherin_2 30 → 112 Cadherin-like Domain
PF15974 Cadherin_tail 810 → 932 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
PF16492 Cadherin_C_2 688 → 772 Cadherin cytoplasmic C-terminal Family
Sequence 
MAALQKLPHCRKLVLLCFLLATLWEARAGQIRYSVREEIDRGSFVGNIAKDLGLEPLALA
EQGVRIVSRGRSQLFALNPRSGSLVTANRIDREELCAQSAPCLLNFNILLEDKLTIYSVE
VEITDINDNAPRFGVEELELKISETTTPGFRIPLKNAHDADVGENALQKYALNPNDHFSL
DVRRGADGNKYPELVLERSLDREEEAVHHLVLVASDGGDPVLSGTSRICVKVLDANDNAP
VFTQPEYRISIPENTLVGTRILTVTATDADEGYYAQVVYFLEKSPGETSEVFELKSTSGE
LTIIKDLDYEDATFHEIDIEAQDGPGLLTRAKVIVTVLDVNDNAPEFYMTSATSSVSEDS
LPGTIIGLFNVHDRDSGQNAFTTCSLPEDLPFKLEKSVDNYYRLVTTRALDREQFSFYNI
TLTAKDGGNPSLSTDAHILLQVADINDNAPAFSRTSYSTYIPENNPRGASVFSVTAHDPD
SNDNAHVTYSFAEDTVQGAPLSSYISINSDTGVLYALRSFDYEQLRDLQVWVIARDSGNP
PLSSNVSLSLFVLDQNDNAPEILYPAFPTDGSTGVELAPRSAEPGYLVTKVVAVDRDSGQ
NAWLSYHLLKASEPGLFSVGLHTGEVRTARALLDRDALKQSLVVAIQDHGQPPLSATVTL
TVAVADRIPDILADLGSLEPSAIPNDSDLTLYLVVAVAAVSCVFLAFVIVLLAHRLRRWH
KSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLI
SQESCEKKDFLSAPQSLLEEEREETFSQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN
NQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGS
NATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK
Sequence length 932
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863
★★★★★
★★☆☆☆
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
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog 35396580, 39753749
★★★★★
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 39512680 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Lobular Lobular carcinoma Pubtator 27811364 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer GWASDB_DG 24185611
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for PCDHGA2.

No additional diseases found yet through genes similar to PCDHGA2.