PCDHGA2 (protocadherin gamma subfamily A, 2)

Gene

• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT018412	hsa-miR-335-5p	Microarray	18185580
MIRT021563	hsa-miR-142-3p	Microarray	17612493

Gene ontology (GO)

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
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

Other IDs

• MIM: 606289
• HGNC: 8700
• e!Ensembl: ENSG00000081853

Protein

• UniProt ID: 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
  PF08266	Cadherin_2	30 → 112	Cadherin-like	Domain
  PF00028	Cadherin	138 → 233	Cadherin domain	Domain
  PF00028	Cadherin	247 → 338	Cadherin domain	Domain
  PF00028	Cadherin	352 → 443	Cadherin domain	Domain
  PF00028	Cadherin	457 → 553	Cadherin domain	Domain
  PF00028	Cadherin	578 → 665	Cadherin domain	Domain
  PF16492	Cadherin_C_2	688 → 772	Cadherin cytoplasmic C-terminal	Family
  PF15974	Cadherin_tail	810 → 932	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MAALQKLPHCRKLVLLCFLLATLWEARAGQIRYSVREEIDRGSFVGNIAKDLGLEPLALA
  EQGVRIVSRGRSQLFALNPRSGSLVTANRIDREELCAQSAPCLLNFNILLEDKLTIYSVE
  VEITDINDNAPRFGVEELELKISETTTPGFRIPLKNAHDADVGENALQKYALNPNDHFSL
  DVRRGADGNKYPELVLERSLDREEEAVHHLVLVASDGGDPVLSGTSRICVKVLDANDNAP
  VFTQPEYRISIPENTLVGTRILTVTATDADEGYYAQVVYFLEKSPGETSEVFELKSTSGE
  LTIIKDLDYEDATFHEIDIEAQDGPGLLTRAKVIVTVLDVNDNAPEFYMTSATSSVSEDS
  LPGTIIGLFNVHDRDSGQNAFTTCSLPEDLPFKLEKSVDNYYRLVTTRALDREQFSFYNI
  TLTAKDGGNPSLSTDAHILLQVADINDNAPAFSRTSYSTYIPENNPRGASVFSVTAHDPD
  SNDNAHVTYSFAEDTVQGAPLSSYISINSDTGVLYALRSFDYEQLRDLQVWVIARDSGNP
  PLSSNVSLSLFVLDQNDNAPEILYPAFPTDGSTGVELAPRSAEPGYLVTKVVAVDRDSGQ
  NAWLSYHLLKASEPGLFSVGLHTGEVRTARALLDRDALKQSLVVAIQDHGQPPLSATVTL
  TVAVADRIPDILADLGSLEPSAIPNDSDLTLYLVVAVAAVSCVFLAFVIVLLAHRLRRWH
  KSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLI
  SQESCEKKDFLSAPQSLLEEEREETFSQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN
  NQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGS
  NATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK

• Sequence length: 932

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	39512680	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Associate	27811364	★☆☆☆☆ Found in Text Mining only
Papillary Thyroid Microcarcinoma	Associate	30285776	★☆☆☆☆ Found in Text Mining only
Personality Disorders	Associate	30285776	★☆☆☆☆ Found in Text Mining only