PCDHGA11 (protocadherin gamma subfamily A, 11)

Gene

• Entrez ID: 56105
• Gene name: Protocadherin gamma subfamily A, 11
• Gene symbol: PCDHGA11
• Synonyms (NCBI Gene): PCDH-GAMMA-A11
• 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
MIRT1217354	hsa-miR-200b	CLIP-seq
MIRT1217355	hsa-miR-200c	CLIP-seq
MIRT1217356	hsa-miR-338-3p	CLIP-seq
MIRT1217357	hsa-miR-3682-5p	CLIP-seq
MIRT1217358	hsa-miR-4272	CLIP-seq
MIRT1217359	hsa-miR-4282	CLIP-seq
MIRT1217360	hsa-miR-429	CLIP-seq
MIRT1217361	hsa-miR-634	CLIP-seq

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: 606298
• HGNC: 8698
• e!Ensembl: ENSG00000253873

Protein

• UniProt ID: Q9Y5H2
• Protein name: Protocadherin gamma-A11 (PCDH-gamma-A11)
• 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	31 → 113	Cadherin-like	Domain
  PF00028	Cadherin	248 → 339	Cadherin domain	Domain
  PF00028	Cadherin	355 → 444	Cadherin domain	Domain
  PF00028	Cadherin	458 → 554	Cadherin domain	Domain
  PF00028	Cadherin	579 → 666	Cadherin domain	Domain
  PF16492	Cadherin_C_2	689 → 773	Cadherin cytoplasmic C-terminal	Family
  PF15974	Cadherin_tail	812 → 935	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MANRLQRGDRSRLLLLLCIFLGTLRGFRARQIRYSVPEETEKGSFVGNISKDLGLEPREL
  AKRGVRIVSRGKTQLFAVNPRSGSLITAGRIDREELCETVSSCFLNMELLVEDTLKIYGV
  EVEIIDINDNAPSFQEDEVEIKVSEHAIPGARFALPNARDPDVGVNSLQSYQLSPNNYFS
  LQLRGRTDGAKNPELVLEGSLDREKEAAHLLLLTALDGGDPIRKGAVPIRVVVLDVNDHI
  PMFTQSVYRVSVPENISSGTRVLMVNATDPDEGINGEVMYSFRNMESKASEIFQLDSQTG
  EVQVRGSLDFEKYRFYEMEIQGQDGGGLFTTTTMLITVVDVNDNAPEITITSSINSILEN
  SPPGTVIALLNVQDQDSGENGQVSCFIPNHLPFKLEKTYGNYYKLITSRVLDRELVQSYN
  ITLTATDQGSPPLSAETHVWLNVADDNDNPPVFPHSSYSAYIPENNPRGASIFSVTALDP
  DSKQNALVTYSLTDDTVQGVPLSSYVSINSNTGVLYALQSFDYEQFRDLELRVIARDSGD
  PPLSSNVSLSLFVLDQNDNAPEILYPALPTDGSTGVELAPRSAEPGYLVTKVVAVDKDSG
  QNAWLSYRLLKASEPGLFAVGEHTGEVRTARALLDRDALKQSLVVAVQDHGQPPLSATVT
  LTVAVADSIPEVLADLGSLESLANSETSDLSLYLVVAVAAVSCIFLVFVIVLLALRLWRW
  HKSRLLQASEGGLAGMPTSHFVGVDGVQAFLQTYSHEVSLIADSQKSHLIFPQPNYGDTL
  ISQESCEKSEPLLIAEDSAIILGKCDPTSNQQAPPNTDWRFSQAQRPGTSGSQNGDDTGT
  WPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYI
  PGSNATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK

• Sequence length: 935

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
Neurodevelopmental disorder	Uncertain significance	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
Astrocytoma	Associate	15799819	★☆☆☆☆ Found in Text Mining only