ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

KEGG Pathway Report

Basic Info
ID hsa05211
Name Renal cell carcinoma
Description  Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventional RCC (clear cell RCC) accounts for ~80% of cases, followed by papillary RCC (10-15%), chromophobe RCC (5%), and collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of functional FH leads to accumulation of fumarate in the cell, triggering inhibition of HPH and preventing targeted pVHL-mediated degradation of HIF-alpha. BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC.
No. of Genes in ADHDgene  13
Source Pathway by Database Search

Pathway related genes in ADHDgene (count: 13)

Literature-origin genes (count: 2)

Approved Symbol Approved Name Location No. of Studies (significant/non-significant/trend)
TCEB1 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) 8q13.3 1(0/0/1)
VEGFA vascular endothelial growth factor A 6p12 1(0/1/0)

Genes from other sources Help(count: 11)

Approved Symbol Approved Name Location Source
VEGFB vascular endothelial growth factor B 11q13 Mapped by significant region
MAPK3 mitogen-activated protein kinase 3 16p11.2 Mapped by CNV
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 11q13-q14 Mapped by significant region
MAPK1 mitogen-activated protein kinase 1 22q11.2 Mapped by LD-proxy
ETS1 v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) 11q23.3 Mapped by significant region
FLCN folliculin 17p11.2 Mapped by significant region
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 5q13.1 Mapped by significant region
PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide 7q22 Mapped by CNV
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 20p12 Mapped by CNV
CRKL v-crk sarcoma virus CT10 oncogene homolog (avian)-like 22q11.21 Mapped by CNV
EGLN3 egl nine homolog 3 (C. elegans) 14q12 Mapped by LD-proxy; Mapped by literature SNP