PCDHGC3 (protocadherin gamma subfamily C, 3)

Gene

• Entrez ID: 5098
• Gene name: Protocadherin gamma subfamily C, 3
• Gene symbol: PCDHGC3
• Synonyms (NCBI Gene): PC43, PCDH-GAMMA-C3, PCDH2
• 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
MIRT018124	hsa-miR-335-5p	Microarray	18185580
MIRT2062725	hsa-miR-1207-5p	CLIP-seq
MIRT2062726	hsa-miR-1972	CLIP-seq
MIRT2062727	hsa-miR-3128	CLIP-seq
MIRT2062728	hsa-miR-4717-5p	CLIP-seq
MIRT2062729	hsa-miR-4720-5p	CLIP-seq
MIRT2062730	hsa-miR-4736	CLIP-seq
MIRT2062731	hsa-miR-4763-3p	CLIP-seq
MIRT2062732	hsa-miR-4799-3p	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:0016020	Component	Membrane	NAS	8508762
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	8508762
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

Other IDs

• MIM: 603627
• HGNC: 8716
• e!Ensembl: ENSG00000240184

Protein

• UniProt ID: Q9UN70
• Protein name: Protocadherin gamma-C3 (PCDH-gamma-C3) (Protocadherin-2) (Protocadherin-43) (PC-43)
• 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	32 → 114	Cadherin-like	Domain
  PF00028	Cadherin	140 → 235	Cadherin domain	Domain
  PF00028	Cadherin	249 → 343	Cadherin domain	Domain
  PF00028	Cadherin	358 → 448	Cadherin domain	Domain
  PF00028	Cadherin	462 → 558	Cadherin domain	Domain
  PF00028	Cadherin	580 → 667	Cadherin domain	Domain
  PF16492	Cadherin_C_2	689 → 775	Cadherin cytoplasmic C-terminal	Family
  PF15974	Cadherin_tail	812 → 934	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MVPEAWRSGLVSTGRVVGVLLLLGALNKASTVIHYEIPEEREKGFAVGNVVANLGLDLGS
  LSARRFRVVSGASRRFFEVNRETGEMFVNDRLDREELCGTLPSCTVTLELVVENPLELFS
  VEVVIQDINDNNPAFPTQEMKLEISEAVAPGTRFPLESAHDPDVGSNSLQTYELSRNEYF
  ALRVQTREDSTKYAELVLERALDREREPSLQLVLTALDGGTPALSASLPIHIKVLDANDN
  APVFNQSLYRARVLEDAPSGTRVVQVLATDLDEGPNGEIIYSFGSHNRAGVRQLFALDLV
  TGMLTIKGRLDFEDTKLHEIYIQAKDKGANPEGAHCKVLVEVVDVNDNAPEITVTSVYSP
  VPEDAPLGTVIALLSVTDLDAGENGLVTCEVPPGLPFSLTSSLKNYFTLKTSADLDRETV
  PEYNLSITARDAGTPSLSALTIVRVQVSDINDNPPQSSQSSYDVYIEENNLPGAPILNLS
  VWDPDAPQNARLSFFLLEQGAETGLVGRYFTINRDNGIVSSLVPLDYEDRREFELTAHIS
  DGGTPVLATNISVNIFVTDRNDNAPQVLYPRPGGSSVEMLPRGTSAGHLVSRVVGWDADA
  GHNAWLSYSLLGSPNQSLFAIGLHTGQISTARPVQDTDSPRQTLTVLIKDNGEPSLSTTA
  TLTVSVTEDSPEARAEFPSGSAPREQKKNLTFYLLLSLILVSVGFVVTVFGVIIFKVYKW
  KQSRDLYRAPVSSLYRTPGPSLHADAVRGGLMSPHLYHQVYLTTDSRRSDPLLKKPGAAS
  PLASRQNTLRSCDPVFYRQVLGAESAPPGQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTW
  PNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIP
  GSNATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK

• Sequence length: 934

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 WITH POOR GROWTH AND SKELETAL ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	22249255		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	31216007		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22249255		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11720477, 30198869	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22249255	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30198869		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35897674	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35897674	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31216007		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34332121	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22249255		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	31216007		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	31216007	Associate	★☆☆☆☆ Found in Text Mining only