Property Summary

NCBI Gene PubMed Count 13
PubMed Score 3.43
PubTator Score 5.46

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
breast carcinoma 1614 1.17858325289564E-32
juvenile dermatomyositis 1189 2.75225502503662E-13
ovarian cancer 8492 1.70321443802277E-7
posterior fossa group A ependymoma 1511 1.65338509493818E-6
non-inflammatory breast cancer 208 2.46310783111123E-6
Duchenne muscular dystrophy 602 2.92935686399371E-6
acute quadriplegic myopathy 1157 2.22881191051149E-5
atypical teratoid/rhabdoid tumor 1095 4.29240335849869E-5
psoriasis 6685 6.76253500749175E-5
cystic fibrosis 1670 8.49315078038488E-5
adrenocortical adenoma 134 9.50614382414193E-5
primary pancreatic ductal adenocarcinoma 1271 1.41458900517191E-4
pediatric high grade glioma 2712 2.21580033665837E-4
autosomal dominant Emery-Dreifuss muscular dystrophy 499 3.78315085082323E-4
glioblastoma 5572 7.52392782723892E-4
ductal carcinoma in situ 1745 7.71851256787816E-4
osteosarcoma 7933 9.37647493556505E-4
invasive ductal carcinoma 2950 0.00193395851576578
ulcerative colitis 2087 0.00194194795441568
pancreatic cancer 2300 0.00275914979344236
Pick disease 1893 0.00367619337291681
primitive neuroectodermal tumor 3031 0.0057491280327017
sonic hedgehog group medulloblastoma 1482 0.00676641635437756
urothelial carcinoma 318 0.00785918594070288
subependymal giant cell astrocytoma 2287 0.0185969971113009
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0275614004765266
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Patent foramen ovale 9 3.462 1.7

Expression

Synonym

Accession Q9HCL0 A8K7K3 B7ZKT1 Q52LS2
Symbols PCDH68L

Gene

PANTHER Protein Class (2)

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

Gene RIF (1)

PMID Text
26739415 A homozygous PCDH18 missense mutation (S1006L)from familial hemophagocytic lymphohistiocytosis type 2 patient destabilized the protein structure.

AA Sequence

MHQMNAKMHFRFVFALLIVSFNHDVLGKNLKYRIYEEQRVGSVIARLSEDVADVLLKLPNPSTVRFRAMQ      1 - 70
RGNSPLLVVNEDNGEISIGATIDREQLCQKNLNCSIEFDVITLPTEHLQLFHIEVEVLDINDNSPQFSRS     71 - 140
LIPIEISESAAVGTRIPLDSAFDPDVGENSLHTYSLSANDFFNIEVRTRTDGAKYAELIVVRELDRELKS    141 - 210
SYELQLTASDMGVPQRSGSSILKISISDSNDNSPAFEQQSYIIQLLENSPVGTLLLDLNATDPDEGANGK    211 - 280
IVYSFSSHVSPKIMETFKIDSERGHLTLFKQVDYEITKSYEIDVQAQDLGPNSIPAHCKIIIKVVDVNDN    281 - 350
KPEININLMSPGKEEISYIFEGDPIDTFVALVRVQDKDSGLNGEIVCKLHGHGHFKLQKTYENNYLILTN    351 - 420
ATLDREKRSEYSLTVIAEDRGTPSLSTVKHFTVQINDINDNPPHFQRSRYEFVISENNSPGAYITTVTAT    421 - 490
DPDLGENGQVTYTILESFILGSSITTYVTIDPSNGAIYALRIFDHEEVSQITFVVEARDGGSPKQLVSNT    491 - 560
TVVLTIIDENDNVPVVIGPALRNNTAEITIPKGAESGFHVTRIRAIDRDSGVNAELSCAIVAGNEENIFI    561 - 630
IDPRSCDIHTNVSMDSVPYTEWELSVIIQDKGNPQLHTKVLLKCMIFEYAESVTSTAMTSVSQASLDVSM    631 - 700
IIIISLGAICAVLLVIMVLFATRCNREKKDTRSYNCRVAESTYQHHPKRPSRQIHKGDITLVPTINGTLP    701 - 770
IRSHHRSSPSSSPTLERGQMGSRQSHNSHQSLNSLVTISSNHVPENFSLELTHATPAVEQVSQLLSMLHQ    771 - 840
GQYQPRPSFRGNKYSRSYRYALQDMDKFSLKDSGRGDSEAGDSDYDLGRDSPIDRLLGEGFSDLFLTDGR    841 - 910
IPAAMRLCTEECRVLGHSDQCWMPPLPSPSSDYRSNMFIPGEEFPTQPQQQHPHQSLEDDAQPADSGEKK    911 - 980
KSFSTFGKDSPNDEDTGDTSTSSLLSEMSSVFQRLLPPSLDTYSECSEVDRSNSLERRKGPLPAKTVGYP    981 - 1050
QGVAAWAASTHFQNPTTNCGPPLGTHSSVQPSSKWLPAMEEIPENYEEDDFDNVLNHLNDGKHELMDASE   1051 - 1120
LVAEINKLLQDVRQS                                                          1121 - 1135
//

Text Mined References (16)

PMID Year Title
26739415 2016 Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
23719583 2013 Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.
23393555 2013 Genome-wide association study of retinopathy in individuals without diabetes.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22832960 2012 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11716507 2001 Disabled-1 interacts with a novel developmentally regulated protocadherin.
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