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	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27643535		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	30922328		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27643535		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28070120		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21847011, 24366498, 24567353, 26700620, 31772653		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27351130		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33896826	Inhibit	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	30165032		★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	21847011		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24376576, 29575536	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38145746	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21847011, 24366498, 24567353, 26700620, 31772653		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	36698136	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21847011, 26404644, 28688232, 35838992	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	24567353	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29991130		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31285779		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27643535		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29575536	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22926751, 27351130, 31815010		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29575536	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26404644, 28688232		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	30213786		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33319642	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33896826	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	21213369, 29566279, 30454973		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30922328	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30922328	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30922328		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26386721		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29270240, 33859751	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25091018, 26404644, 28688232	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27351130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	30165032		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29991130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25091018		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22207556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21847011, 24366498, 24567353, 26700620, 31772653		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22207556, 24567353, 29566279		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27351130		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28070120		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30165032		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20200074, 21213369, 22207556, 22926751, 24567353, 25091018, 26404644, 27351130, 28688232, 29566279, 29991130, 30863170, 31815010		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	29991130		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	36698136	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29991130, 36698136	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25091018		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21847011, 25091018	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28688232		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17464717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17464717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20200074		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30454973	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22207556		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24376576	Associate	★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	BEFREE	29566674		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	24567353		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21847011, 24366498, 24567353, 26700620, 35241014	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	21847011, 28688232	Associate	★☆☆☆☆ Found in Text Mining only