PCDH8 (protocadherin 8)

Gene

• Entrez ID: 5100
• Gene name: Protocadherin 8
• Gene symbol: PCDH8
• Synonyms (NCBI Gene): ARCADLIN, PAPC
• Chromosome: 13
• Chromosome location: 13q14.3
• Summary: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are general

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000773	hsa-miR-200a-3p	Microarray, Northern blot	16331254
MIRT1216895	hsa-miR-141	CLIP-seq
MIRT1216896	hsa-miR-200a	CLIP-seq
MIRT1216897	hsa-miR-300	CLIP-seq
MIRT1216898	hsa-miR-381	CLIP-seq
MIRT1216899	hsa-miR-4666-3p	CLIP-seq
MIRT1216900	hsa-miR-1271	CLIP-seq
MIRT1216901	hsa-miR-129-5p	CLIP-seq
MIRT1216902	hsa-miR-1324	CLIP-seq
MIRT1216903	hsa-miR-182	CLIP-seq
MIRT1216904	hsa-miR-218	CLIP-seq
MIRT1216905	hsa-miR-3121-5p	CLIP-seq
MIRT1216906	hsa-miR-4275	CLIP-seq
MIRT1216907	hsa-miR-4318	CLIP-seq
MIRT1216908	hsa-miR-4436b-5p	CLIP-seq
MIRT1216909	hsa-miR-4693-5p	CLIP-seq
MIRT1216910	hsa-miR-511	CLIP-seq
MIRT1216911	hsa-miR-513a-3p	CLIP-seq
MIRT1216912	hsa-miR-556-3p	CLIP-seq
MIRT1216913	hsa-miR-600	CLIP-seq
MIRT1216914	hsa-miR-636	CLIP-seq
MIRT1216915	hsa-miR-892a	CLIP-seq
MIRT1216916	hsa-miR-96	CLIP-seq
MIRT2062604	hsa-miR-101	CLIP-seq
MIRT2062605	hsa-miR-450b-5p	CLIP-seq
MIRT2062606	hsa-miR-518a-5p	CLIP-seq
MIRT2062607	hsa-miR-527	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001756	Process	Somitogenesis	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9787079
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007267	Process	Cell-cell signaling	TAS	9787079
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0016020	Component	Membrane	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099179	Process	Regulation of synaptic membrane adhesion	IEA

Other IDs

• MIM: 603580
• HGNC: 8660
• e!Ensembl: ENSG00000136099

Protein

• UniProt ID: O95206
• Protein name: Protocadherin-8 (Arcadlin)
• Protein function: Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippoc
• PDB: 6VFV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08266	Cadherin_2	31 → 111	Cadherin-like	Domain
  PF00028	Cadherin	140 → 236	Cadherin domain	Domain
  PF00028	Cadherin	251 → 345	Cadherin domain	Domain
  PF00028	Cadherin	398 → 488	Cadherin domain	Domain
  PF00028	Cadherin	502 → 600	Cadherin domain	Domain
  PF00028	Cadherin	619 → 711	Cadherin domain	Domain

• Sequence:

  MSPVRRWGSPCLFPLQLFSLCWVLSVAQSKTVRYSTFEEDAPGTVIGTLAEDLHMKVSGD
  TSFRLMKQFNSSLLRVREGDGQLTVGDAGLDRERLCGQAPQCVLAFDVVSFSQEQFRLVH
  VEVEVRDVNDHAPRFPRAQIPVEVSEGAAVGTRIPLEVPVDEDVGANGLQTVRLAEPHSP
  FRVELQTRADGAQCADLVLLQELDRESQAAYSLELVAQDGGRPPRSATAALSVRVLDAND
  HSPAFPQGAVAEVELAEDAPVGSLLLDLDAADPDEGPNGDVVFAFGARTPPEARRLFRLD
  PRSGRLTLAGPVDYERQDTYELDVRAQDRGPGPRAATCKVIVRIRDVNDNAPDIAITPLA
  APGAPATSPFAAAAAAAALGGADASSPAGAGTPEAGATSLVPEGAARESLVALVSTSDRD
  SGANGQVRCALYGHEHFRLQPAYAGSYLVVTAASLDRERIAEYNLTLVAEDRGAPPLRTV
  RPYTVRVGDENDNAPLFTRPVYEVSVRENNPPGAYLATVAARDRDLGRNGQVTYRLLEAE
  VGRAGGAVSTYVSVDPATGAIYALRSFDYETLRQLDVRIQASDGGSPQLSSSALVQVRVL
  DQNDHAPVLVHPAPANGSLEVAVPGRTAKDTVVARVQARDADEGANGELAFELQQQEPRE
  AFAIGRRTGEILLTGDLSQEPPGRVFRALLVISDGGRPPLTTTATVSFVVTAGGGRGPAA
  PASAGSPERSRPPGSRLGVSGSVLQWDTPLIVIIVLAGSCTLLLAAIIAIATTCNRRKKE
  VRKGGALREERPGAAGGGASAPGSPEEAARGAGPRPNMFDVLTFPGTGKAPFGSPAADAP
  PPAVAAAEVPGSEGGSATGESACHFEGQQRLRGAHAEPYGASPGFGKEPAPPVAVWKGHS
  FNTISGREAEKFSGKDSGKGDSDFNDSDSDISGDALKKDLINHMQSGLWACTAECKILGH
  SDRCWSPSCSGPNAHPSPHPPAQMSTFCKSTSLPRDPLRRDNYYQAQLPKTVGLQSVYEK
  VLHRDYDRTVTLLSPPRPGRLPDLQEIGVPLYQSPPGRYLSPKKGANENV

• Sequence length: 1070

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerosis	Arteriosclerosis	BEFREE	17726017		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17726017		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25574603	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23569129, 28789392		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18408767, 22941331		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33899544	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23569129, 28789392		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25416427, 34689221	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29324532		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21132003, 25416427, 28789392		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17065348		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	21505449	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26567223		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24684796	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17065348		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27246830		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27246830		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27246830, 28927088		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21505449, 22909775		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25416427, 25486497, 29026066	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18408767, 22941331		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29324532		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19208208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28789392, 29026066		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22941331, 29325230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23569129, 28789392		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22941331, 28789392, 28927088, 29325230		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	21505449		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22273848		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18408767, 21132003, 22273848, 22941331, 23569129, 25416427, 25927589, 27246830, 28789392, 29324532, 29865037		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29324532		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26961748, 38272954	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28789392, 29026066		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19208208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25486497, 29026066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychomotor Disorders	Psychiatric disorders	Pubtator	21505449, 22909775	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21132003, 28789392		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12884975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12884975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12884975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22941331, 29325230		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23569129	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	30391630	Associate	★☆☆☆☆ Found in Text Mining only