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

KEGG Pathway Report

Basic Info
ID hsa04144
Name Endocytosis
Description  Endocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins entering through clathrin-dependent endocytosis (CDE) have sequences in their cytoplasmic domains that bind to the APs (adaptor-related protein complexes) and enable their rapid removal from the PM. In addition to APs and clathrin, there are numerous accessory proteins including dynamin. Depending on the various proteins that enter the endosome membrane, these cargoes are sorted to distinct destinations. Some cargoes, such as nutrient receptors, are recycled back to the PM. Ubiquitylated membrane proteins, such as activated growth-factor receptors, are sorted into intraluminal vesicles and eventually end up in the lysosome lumen via multivesicular endosomes (MVEs). There are distinct mechanisms of clathrin-independent endocytosis (CIE) depending upon the cargo and the cell type.
No. of Genes in ADHDgene  39
Source Pathway by Database Search

Pathway related genes in ADHDgene (count: 39)

Literature-origin genes (count: 9)

Approved Symbol Approved Name Location No. of Studies (significant/non-significant/trend)
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 17p11.2 2(1/1/0)
ADRBK2 adrenergic, beta, receptor kinase 2 22q11 1(0/1/0)
ADRB1 adrenergic, beta-1-, receptor 10q24-q26 2(0/2/0)
ADRB2 adrenergic, beta-2-, receptor, surface 5q31-q32 2(1/1/0)
ARRB2 arrestin, beta 2 17p13 1(1/0/0)
ADRB3 adrenergic, beta-3-, receptor 8p12 2(0/2/0)
ADRBK1 adrenergic, beta, receptor kinase 1 11q13 1(0/1/0)
ARRB1 arrestin, beta 1 11q13 2(1/1/0)
DNM1 dynamin 1 9q34 1(0/0/1)

Genes from other sources Help(count: 30)

Approved Symbol Approved Name Location Source
ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 11q13.3 Mapped by significant region
EHD1 EH-domain containing 1 11q13 Mapped by significant region
CCR5 chemokine (C-C motif) receptor 5 3p21 Mapped by PBA pathway
CBL Cas-Br-M (murine) ecotropic retroviral transforming sequence 11q23.3-qter Mapped by significant region
RUFY1 RUN and FYVE domain containing 1 5q35.3 Mapped by CNV
PLD1 phospholipase D1, phosphatidylcholine-specific 3q26 Mapped by PBA pathway
FOLR2 folate receptor 2 (fetal) 11q13.3-q14.1 Mapped by significant region
FAM125B family with sequence similarity 125, member B 9q34.12 Mapped by significant region
HSPA8 heat shock 70kDa protein 8 11q24.1 Mapped by significant region
FOLR3 folate receptor 3 (gamma) 11q13.4 Mapped by significant region
FOLR1 folate receptor 1 (adult) 11q13.3-q14.1 Mapped by significant region
DAB2 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) 5p13 Mapped by significant region
FOLR4 folate receptor 4 (delta) homolog (mouse) 11q14 Mapped by significant region
TGFBR1 transforming growth factor, beta receptor 1 9q22 Mapped by significant region
WWP1 WW domain containing E3 ubiquitin protein ligase 1 8q21 Mapped by CNV
CXCR2 chemokine (C-X-C motif) receptor 2 2q35 Mapped by significant region
CXCR1 chemokine (C-X-C motif) receptor 1 2q35 Mapped by significant region
EHD3 EH-domain containing 3 2p21 Mapped by CNV
CAV3 caveolin 3 3p25 Mapped by LD-proxy; Mapped by literature SNP
ARF6 ADP-ribosylation factor 6 14q21.3 Mapped by PBA pathway
CLTCL1 clathrin, heavy chain-like 1 22q11.2 Mapped by CNV
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 2p24 Mapped by significant region
HSPA6 heat shock 70kDa protein 6 (HSP70B') 1q23.3 Mapped by CNV
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like 18q21 Mapped by significant region
CHMP1B chromatin modifying protein 1B 18p11.21 Mapped by literature SNP
PLD2 phospholipase D2 17p13.3 Mapped by PBA pathway
EPN2 epsin 2 17p11.1 Mapped by significant region
VPS37C vacuolar protein sorting 37 homolog C (S. cerevisiae) 11q12.2 Mapped by significant region
VPS37D vacuolar protein sorting 37 homolog D (S. cerevisiae) 7q11.23 Mapped by LD-proxy
CHMP4A chromatin modifying protein 4A 14q11.2 Mapped by significant region