PCDHGC4 (protocadherin gamma subfamily C, 4)

Gene

• Entrez ID: 56098
• Gene name: Protocadherin gamma subfamily C, 4
• Gene symbol: PCDHGC4
• Synonyms (NCBI Gene): NEDGS, PCDH-GAMMA-C4
• 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
MIRT016713	hsa-miR-335-5p	Microarray	18185580

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:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0050808	Process	Synapse organization	IBA
GO:0050808	Process	Synapse organization	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

Other IDs

• MIM: 606305
• HGNC: 8717
• e!Ensembl: ENSG00000242419

Protein

• UniProt ID: Q9Y5F7
• Protein name: Protocadherin gamma-C4 (PCDH-gamma-C4)
• 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	356 → 446	Cadherin domain	Domain
  PF00028	Cadherin	460 → 556	Cadherin domain	Domain
  PF00028	Cadherin	581 → 666	Cadherin domain	Domain
  PF15974	Cadherin_tail	816 → 938	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MLRKVRSWTEIWRWATLLFLFYHLGYVCGQIRYPVPEESQEGTFVGNVAQDFLLDTDSLS
  ARRLQVAGEVNQRHFRVDLDSGALLIKNPIDREALCGLSASCIVPLEFVTEGPLEMYRAE
  VEIVDVNDHAPRFPRQQLDLEIGEAAPPGQRFPLEKAQDADVGSNSISSYRLSSNEHFAL
  DVKKRSDGSLVPELLLEKPLDREKQSDYRLVLTAVDGGNPPRSGTAELRVSVLDVNDNAP
  AFQQSSYRISVLESAPAGMVLIQLNASDPDLGPSGNVTFYFSGHTPDRVRNLFSLHPTTG
  KLTLLGPLDFESENYYEFDVRARDGGSPAMEQHCSLRVDLLDVNDNAPYITVTSELGTLP
  ESAEPGTVVALISVQDPDSGSNGDVSLRIPDHLPFALKSAFRNQFSLVTAGPLDREAKSS
  YDIMVTASDAGNPPLSTHRTIFLNISDVNDNPPSFFQRSHEVFVPENNRPGDLLCSLAAS
  DPDSGLNALISYSLLEPRNRDVSASSFISLNPQTGAVHATRSFDYEQTQTLQFEVQARDR
  GNPPLSSTVTVRLFVLDLNDNAPAVLRPRARPGSLCPQALPPSVGAGHLITKVTAVDLDS
  GYNAWVSYQLLEAPDPSLFAVSRYAGEVRTAVPIPADLPPQKLVIVVKDSGSPPLSTSVT
  LLVSLEEDTHPVVPDLRESSAPREGESRLTLYLAVSLVAICFVSFGSFVALLSKCLRGAA
  CGVTCFPAGTCACLTRSRRREGLPPSNGILRIQLGSDDPIKFVDVGGHSHGCTPLASAPT
  RSDSFMMVKSPSAPMAGEPVRPSCPPSDLLYGLEQAPPNTDWRFSQAQRPGTSGSQNGDD
  TGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQN
  VYIPGSNATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK

• Sequence length: 938

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder with poor growth and skeletal anomalies	Pathogenic; Likely pathogenic	rs1320329216, rs114678203, rs2154580433, rs2154580601, rs2154580803, rs2507903413, rs2507843944	RCV002248460 RCV002248461 RCV002248463 RCV002248464 RCV002259562 RCV002465045 RCV004578015	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PCDHGC4-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Blood Coagulation Disorders Inherited	Associate	34244665	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	34244665	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	34244665	★☆☆☆☆ Found in Text Mining only
Joint Diseases	Associate	34244665	★☆☆☆☆ Found in Text Mining only
Microcephaly	Associate	34244665	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26371886	★☆☆☆☆ Found in Text Mining only
Seizures	Associate	34244665	★☆☆☆☆ Found in Text Mining only