PCDH17 (protocadherin 17)

Gene

• Entrez ID: 27253
• Gene name: Protocadherin 17
• Gene symbol: PCDH17
• Synonyms (NCBI Gene): PCDH68, PCH68
• Chromosome: 13
• Chromosome location: 13q21.1
• Summary: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. T

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709689	hsa-miR-548m	HITS-CLIP	19536157
MIRT709688	hsa-miR-548ag	HITS-CLIP	19536157
MIRT709687	hsa-miR-548ai	HITS-CLIP	19536157
MIRT709686	hsa-miR-548ba	HITS-CLIP	19536157
MIRT709685	hsa-miR-570-5p	HITS-CLIP	19536157
MIRT709684	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT709683	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT709682	hsa-miR-6072	HITS-CLIP	19536157
MIRT709681	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT709680	hsa-miR-5193	HITS-CLIP	19536157
MIRT709679	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT709678	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT709677	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT709676	hsa-miR-4279	HITS-CLIP	19536157
MIRT709675	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT709674	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT622911	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622910	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622909	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622908	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT622907	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622906	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT622905	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT709689	hsa-miR-548m	HITS-CLIP	19536157
MIRT709688	hsa-miR-548ag	HITS-CLIP	19536157
MIRT709687	hsa-miR-548ai	HITS-CLIP	19536157
MIRT709686	hsa-miR-548ba	HITS-CLIP	19536157
MIRT709685	hsa-miR-570-5p	HITS-CLIP	19536157
MIRT709684	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT709683	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT709682	hsa-miR-6072	HITS-CLIP	19536157
MIRT709681	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT709680	hsa-miR-5193	HITS-CLIP	19536157
MIRT709679	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT709678	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT709677	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT709676	hsa-miR-4279	HITS-CLIP	19536157
MIRT709675	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT709674	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT622911	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622910	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622909	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622908	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT622907	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622906	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT622905	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT1216791	hsa-miR-1200	CLIP-seq
MIRT1216792	hsa-miR-127-5p	CLIP-seq
MIRT1216793	hsa-miR-224	CLIP-seq
MIRT1216794	hsa-miR-30a	CLIP-seq
MIRT1216795	hsa-miR-30b	CLIP-seq
MIRT1216796	hsa-miR-30c	CLIP-seq
MIRT1216797	hsa-miR-30d	CLIP-seq
MIRT1216798	hsa-miR-30e	CLIP-seq
MIRT1216799	hsa-miR-3140-5p	CLIP-seq
MIRT1216800	hsa-miR-3607-3p	CLIP-seq
MIRT1216801	hsa-miR-3662	CLIP-seq
MIRT1216802	hsa-miR-4282	CLIP-seq
MIRT1216803	hsa-miR-4310	CLIP-seq
MIRT1216804	hsa-miR-4446-5p	CLIP-seq
MIRT1216805	hsa-miR-4729	CLIP-seq
MIRT1216806	hsa-miR-4760-5p	CLIP-seq
MIRT1216807	hsa-miR-579	CLIP-seq
MIRT1216808	hsa-miR-590-3p	CLIP-seq
MIRT1921689	hsa-miR-4422	CLIP-seq
MIRT1216791	hsa-miR-1200	CLIP-seq
MIRT1216799	hsa-miR-3140-5p	CLIP-seq
MIRT2062563	hsa-miR-409-3p	CLIP-seq
MIRT1216804	hsa-miR-4446-5p	CLIP-seq
MIRT2291007	hsa-miR-140-3p	CLIP-seq
MIRT2291008	hsa-miR-217	CLIP-seq
MIRT2291009	hsa-miR-2276	CLIP-seq
MIRT2291010	hsa-miR-4789-5p	CLIP-seq
MIRT2588632	hsa-miR-1179	CLIP-seq
MIRT2588633	hsa-miR-3163	CLIP-seq
MIRT2588634	hsa-miR-340	CLIP-seq
MIRT2588635	hsa-miR-3653	CLIP-seq
MIRT2588636	hsa-miR-3658	CLIP-seq
MIRT2588637	hsa-miR-532-5p	CLIP-seq
MIRT2588632	hsa-miR-1179	CLIP-seq
MIRT2588633	hsa-miR-3163	CLIP-seq
MIRT2588634	hsa-miR-340	CLIP-seq
MIRT2588635	hsa-miR-3653	CLIP-seq
MIRT2588636	hsa-miR-3658	CLIP-seq
MIRT2588637	hsa-miR-532-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19945174, 32296183
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:0016020	Component	Membrane	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050805	Process	Negative regulation of synaptic transmission	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099560	Process	Synaptic membrane adhesion	IEA
GO:1904071	Process	Presynaptic active zone assembly	IBA
GO:1904071	Process	Presynaptic active zone assembly	IEA
GO:2000807	Process	Regulation of synaptic vesicle clustering	IEA

Other IDs

• MIM: 611760
• HGNC: 14267
• e!Ensembl: ENSG00000118946

Protein

• UniProt ID: O14917
• Protein name: Protocadherin-17 (Protocadherin-68)
• Protein function: Potential calcium-dependent cell-adhesion protein.
• PDB: 6VFT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08266	Cadherin_2	20 → 112	Cadherin-like	Domain
  PF00028	Cadherin	137 → 234	Cadherin domain	Domain
  PF00028	Cadherin	248 → 342	Cadherin domain	Domain
  PF00028	Cadherin	357 → 463	Cadherin domain	Domain
  PF00028	Cadherin	477 → 574	Cadherin domain	Domain
  PF00028	Cadherin	593 → 682	Cadherin domain	Domain

• Sequence:

  MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSK
  SGSYRVLENSAPHLLDVDADSGLLYTKQRIDRESLCRHNAKCQLSLEVFANDKEICMIKV
  EIQDINDNAPSFSSDQIEMDISENAAPGTRFPLTSAHDPDAGENGLRTYLLTRDDHGLFG
  LDVKSRGDGTKFPELVIQKALDREQQNHHTLVLTALDGGEPPRSATVQINVKVIDSNDNS
  PVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYSFSSYVPDRVRELFSIDPKT
  GLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVKLIDRNDNAPSIGFVSVRQGA
  LSEAAPPGTVIALVRVTDRDSGKNGQLQCRVLGGGGTGGGGGLGGPGGSVPFKLEENYDN
  FYTVVTDRPLDRETQDEYNVTIVARDGGSPPLNSTKSFAIKILDENDNPPRFTKGLYVLQ
  VHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIGDVSIYTYVSVNPTNGAIYALRSF
  NFEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDVNDNAPVIVLPTLQNDTAELQVPRN
  AGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVE
  LVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILL
  AAMITIAVKCKRENKEIRTYNCRIAEYSHPQLGGGKGKKKKINKNDIMLVQSEVEERNAM
  NVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTVPQGHAGCHTSFTGQG
  TNASETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSSTFKDPERASLRDSGHGDSDQADS
  DQDTNKGSCCDMSVREALKMKTTSTKSQPLEQEPEECVNCTDECRVLGHSDRCWMPQFPA
  ANQAENADYRTNLFVPTVEANVETETYETVNPTGKKTFCTFGKDKREHTILIANVKPYLK
  AKRALSPLLQEVPSASSSPTKACIEPCTSTKGSLDGCEAKPGALAEASSQYLPTDSQYLS
  PSKQPRDPPFMASDQMARVFADVHSRASRDSSEMGAVLEQLDHPNRDLGRESVDAEEVVR
  EIDKLLQDCRGNDPVAVRK

• Sequence length: 1159

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
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenoma	Associate	29575536	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	33896826	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	24376576, 29575536	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	38145746	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	33859751	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	36698136	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	21847011, 26404644, 28688232, 35838992	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Associate	24567353	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	29575536	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	29575536	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Associate	33319642	★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	33896826	★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	30922328	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	30922328	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	29270240, 33859751	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	25091018, 26404644, 28688232	★☆☆☆☆ Found in Text Mining only
Microsatellite Instability	Associate	29575536	★☆☆☆☆ Found in Text Mining only
Neoplasm Invasiveness	Associate	25091018	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	24567353, 25091018, 29575536, 29991130	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	26404644, 28688232, 33896826, 36698136	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Associate	36698136	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	29991130, 36698136	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	21847011, 25091018	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	30454973	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	24376576	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	21847011, 24366498, 24567353, 26700620, 35241014	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Associate	21847011, 28688232	★☆☆☆☆ Found in Text Mining only