PCDHGA3 (protocadherin gamma subfamily A, 3)

Gene

• Entrez ID: 56112
• Gene name: Protocadherin gamma subfamily A, 3
• Gene symbol: PCDHGA3
• Synonyms (NCBI Gene): PCDH-GAMMA-A3
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	33961781
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:0008333	Process	Endosome to lysosome transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0060989	Process	Lipid tube assembly involved in organelle fusion	IEA

Other IDs

• MIM: 606290
• HGNC: 8701
• e!Ensembl: ENSG00000254245

Protein

• UniProt ID: Q9Y5H0
• Protein name: Protocadherin gamma-A3 (PCDH-gamma-A3)
• 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	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:

  MTNCLSFRNGRGLALLCALLGTLCETGSGQIRYSVSEELDKGSFVGNIANDLGLEPRELA
  ERGVRIVSRGRTQLFSLNPQSGSLVTAERIDREELCAQIPLCLVKINILVEDKLKIFEVE
  IEIKDINDNAPNFPTEELEIKIGELTVPGTRFPIKTAFDPDVGINSLQNYKLSPNDYFSL
  AVNSVSEGAKYPELVLERALDREKKEIHQLVLVASDGGDPVHSGNLHIQVIVLDANDNPP
  MFTQPEYRVSVWENVPVGTRLLTVNATDPDEGFNAQVSYILDKMPGKIAEIFHLNSVSGE
  VSILKSLDYEDAMFYEIKIEAQDGPGLLSRAKILVTVLDVNDNAPEITITSLTSSVPEEG
  TVGREIALIDVHDRDSGQNGQVEVFVLGNLPFKLEKSIDQYYRLVTATSLDREQISEYNI
  SLRASDGGSPPLSTETHITLHVIDINDNPPTFPHLSYSAYIPENNPRGASIFSVTAQDPD
  SNNNARITYALTEDTLQGAPLSSFVSINSNTGVLYALRSFDYEQFRDLKLLVTASDSGNP
  PLSSNVSLNLFVLDQNDNAPEILYPALPTDGSTGVELAPRSAEPGYLVTKVVAVDRDSGQ
  NAWLSYRLLKASEPGLFSVGLHTGEVRTARALLDRDALKQSLVVAVQDHGQPPLSATVTL
  TVAVADRIPDILADLGSLEPSAKPNDSDLTLYLVVAVAAVSCVFLAFVIVLLALRLRRWH
  KSRLLQASGGGLASTPGSHFVGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLI
  SQESCEKSEPLLITQDLLEMKGDSNLLQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN
  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
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
Cardiomyopathies	Associate	27472518	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Associate	27748813	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	27748813	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors Primitive	Stimulate	21798848	★☆☆☆☆ Found in Text Mining only
Pinealoma	Stimulate	21798848	★☆☆☆☆ Found in Text Mining only
Stroke	Inhibit	27472518	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Associate	27472518	★☆☆☆☆ Found in Text Mining only