PCDHA7 (protocadherin alpha 7)

Gene

• Entrez ID: 56141
• Gene name: Protocadherin alpha 7
• Gene symbol: PCDHA7
• Synonyms (NCBI Gene): CNR4, CNRN4, CNRS4, CRNR4, PCDH-ALPHA7
• Chromosome: 5
• Chromosome location: 5q31.3
• Summary: This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha ge

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053677	hsa-miR-181a-5p	Microarray	22942087
MIRT053712	hsa-miR-221-3p	Microarray	22942087

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	10380929
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	10380929
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	10380929
GO:0009988	Process	Cell-cell recognition	ISS
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

Other IDs

• MIM: 606313
• HGNC: 8673
• e!Ensembl: ENSG00000204963

Protein

• UniProt ID: Q9UN72
• Protein name: Protocadherin alpha-7 (PCDH-alpha-7)
• Protein function: Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is 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	355 → 446	Cadherin domain	Domain
  PF00028	Cadherin	460 → 556	Cadherin domain	Domain
  PF00028	Cadherin	579 → 670	Cadherin domain	Domain
  PF15974	Cadherin_tail	787 → 920	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MVCPNGYDPGGRHLLLFIIILAAWEAGRGQLHYSVPEEAKHGNFVGRIAQDLGLELAELV
  PRLFRAVCKFRGDLLEVNLQNGILFVNSRIDREELCGRSAECSIHLEVIVERPLQVFHVD
  VEVKDINDNPPVFPATQRNLFIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFFL
  DVPTSNQQVKPLGLVLRKLLDREETPELHLLLTATDGGKPELTGTVQLLITVLDNNDNAP
  VFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSG
  AITVIGHMDFEESRAHKIPVEAVDKGFPPLAGHCTVLVEVVDVNDNAPQLTLTSLSLPIP
  EDAQPGTVITLISVFDRDFGVNGQVTCSLTPRVPFKLVSTFKNYYSLVLDSALDRESVSA
  YELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAG
  DADAQKNALVSYSLVELRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDA
  GVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTGGAVRELVPRSVGAGHVVAKVRAVDAD
  SGYNAWLSYELQPVAAGASIPFRVGLYTGEISTTRALDETDAPRHRLLVLVKDHGEPSLT
  ATATVLVSLVESGQAPKASSRASLGIAGPETELVDVNVYLIIAICAVSSLLVLTLLLYTA
  LRCSAPSSEGACSLVKPTLVCSSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGP
  SSTDNPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGE
  VSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEPTNSQIDKSDF
  ITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ

• Sequence length: 937

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
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ 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
Bipolar Disorder	Associate	32398722	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Associate	32366953	★☆☆☆☆ Found in Text Mining only
Myopia	Associate	36036911	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	32366953	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Inhibit	32398722	★★☆☆☆ Found in Text Mining + Unknown/Other Associations