PCDHA4 (protocadherin alpha 4)

Gene

• Entrez ID: 56144
• Gene name: Protocadherin alpha 4
• Gene symbol: PCDHA4
• Synonyms (NCBI Gene): CNR1, CNRN1, CRNR1, PCDH-ALPHA4
• 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
MIRT019262	hsa-miR-148b-3p	Microarray	17612493
MIRT028998	hsa-miR-26b-5p	Microarray	19088304
MIRT053674	hsa-miR-181a-5p	Microarray	22942087
MIRT053722	hsa-miR-221-3p	Microarray	22942087
MIRT619218	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT659438	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT659437	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT659436	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT619217	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT659435	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT619215	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT619214	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT619218	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT619217	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619216	hsa-miR-27b-5p	HITS-CLIP	23824327
MIRT619215	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT619214	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT619218	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT659438	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT659437	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT659436	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT619217	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT659435	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT619215	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT619214	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT619218	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT619217	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619216	hsa-miR-27b-5p	HITS-CLIP	23824327
MIRT619215	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT619214	hsa-miR-7152-5p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
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:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	10380929
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: 606310
• HGNC: 8670
• e!Ensembl: ENSG00000204967

Protein

• UniProt ID: Q9UN74
• Protein name: Protocadherin alpha-4 (PCDH-alpha-4)
• 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	577 → 670	Cadherin domain	Domain
  PF15974	Cadherin_tail	797 → 930	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MEFSWGSGQESRRLLLLLLLLAAWEAGNGQLHYSVSEEAKHGTFVGRIAQDLGLELAELV
  PRLFRVASKGRGGLLEVNLQNGILFVNSRIDREELCRRSAECSIHLEVIVDRPLQVFHVD
  VEVRDINDNPPVFPATQKNLSIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFSL
  EKPPDDELVKGLGLILRKSLDREEAPEIFLVLTATDGGKPELTGTVQLLITVLDANDNAP
  AFDRTIYKVRLLENVPNGTLVIKLNASDLDEGLNGDIVYSFSNDISPNVKSKFHIDPITG
  QIIVKGYIDFEESKSYEIIVEGIDKGQLPLSGHCRVIVEVEDNNDNVPDLEFKSLSLPIR
  EDAPLGTVIALISVSDKDMGVNGLVTCSLTSHVPFKLVSTFKNYYSLVLDSALDRESVSA
  YELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAW
  DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVTARDA
  GVPPLGSNVTLQVFVLDENDNAPALLAPRAGGTGGAVSELVPWSVGVGHVVAKVRAVDAD
  SGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDETDAPRHRLLVLVKDHGEPALT
  ATATVLVSLVESGQAPKASSRALVGAVGPDAALVDVNVYLIIAICAVSSLLVLTLLLYTA
  LRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSR
  DREDQLQTTEESFAKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS
  SATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEP
  TNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ

• Sequence length: 947

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
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	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
Alzheimer Disease	Associate	33630843	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypomagnesemia primary	Stimulate	25418975	★☆☆☆☆ Found in Text Mining only
Myopia	Associate	36036911	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	25418975	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Associate	27842508	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Diseases	Associate	25418975	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	25418975	★☆☆☆☆ Found in Text Mining only