ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	GHR
Approved Name	growth hormone receptor
Location	5p14-p12
Position	chr5:42423879-42721979, +
External Links	HGNC: 4263 Entrez Gene: 2690 Ensembl: ENSG00000112964 UCSC: uc003jmt.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_61	chr5:42613316-42859556 (NCBI Build 35 (hg17))	246241	5p12	Duplication	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
5p13	chr5:28900000-42500000	3 (1/1/1)

Gene related GO terms (count: 58)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 58)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	Biological Process		14
GO:0048009	insulin-like growth factor receptor signaling pathway	Biological Process	IMP[7565946]	3
GO:0060351	cartilage development involved in endochondral bone morphogenesis	Biological Process		2
GO:0051384	response to glucocorticoid stimulus	Biological Process		17
GO:0045597	positive regulation of cell differentiation	Biological Process		4
GO:0044236	multicellular organismal metabolic process	Biological Process	IMP[8137822]	1
GO:0046898	response to cycloheximide	Biological Process	IDA[9360546]	1
GO:0046449	creatinine metabolic process	Biological Process		1
GO:1901215	negative regulation of neuron death	Biological Process		2
GO:0070555	response to interleukin-1	Biological Process		6
GO:0060397	JAK-STAT cascade involved in growth hormone signaling pathway	Biological Process		5
GO:0060396	growth hormone receptor signaling pathway	Biological Process	IMP[7565946]	2
GO:0070195	growth hormone receptor complex	Cellular Component	IDA[8137822]	1
GO:0070064	proline-rich region binding	Molecular Function	ISS[2825030]	4
GO:0016021	integral to membrane	Cellular Component	IDA[1549776]	845
GO:0017046	peptide hormone binding	Molecular Function	IPI[2825030]	5
GO:0009755	hormone-mediated signaling pathway	Biological Process		4
GO:0009986	cell surface	Cellular Component	IDA[8137822]	70
GO:0019898	extrinsic to membrane	Cellular Component		8
GO:0019901	protein kinase binding	Molecular Function		51
GO:0019530	taurine metabolic process	Biological Process		2
GO:0019838	growth factor binding	Molecular Function	IPI[9360546]	8
GO:0006549	isoleucine metabolic process	Biological Process		1
GO:0006573	valine metabolic process	Biological Process		1
GO:0006105	succinate metabolic process	Biological Process		1
GO:0006107	oxaloacetate metabolic process	Biological Process		2
GO:0006897	endocytosis	Biological Process		23
GO:0007259	JAK-STAT cascade	Biological Process		2
GO:0006600	creatine metabolic process	Biological Process		2
GO:0006631	fatty acid metabolic process	Biological Process		15
GO:0042803	protein homodimerization activity	Molecular Function	IDA[8137822]	113
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	Biological Process	ISS[2825030]	2
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	Biological Process	ISS[2825030]	7
GO:0042169	SH2 domain binding	Molecular Function		7
GO:0043278	response to morphine	Biological Process		9
GO:0043235	receptor complex	Cellular Component	IDA[8137822]	11
GO:0043025	neuronal cell body	Cellular Component		51
GO:0042977	activation of JAK2 kinase activity	Biological Process		2
GO:0032355	response to estradiol stimulus	Biological Process	IDA[12552091]	18
GO:0032094	response to food	Biological Process		2
GO:0031623	receptor internalization	Biological Process	IDA[9360546]	10
GO:0019903	protein phosphatase binding	Molecular Function		12
GO:0040018	positive regulation of multicellular organism growth	Biological Process	IMP[2813379]	6
GO:0040014	regulation of multicellular organism growth	Biological Process		6
GO:0032870	cellular response to hormone stimulus	Biological Process	IMP[7565946]	7
GO:0032869	cellular response to insulin stimulus	Biological Process		7
GO:0005615	extracellular space	Cellular Component	IDA[9360546]; IMP[2825030]	126
GO:0005576	extracellular region	Cellular Component		240
GO:0005739	mitochondrion	Cellular Component		183
GO:0005634	nucleus	Cellular Component		770
GO:0005887	integral to plasma membrane	Cellular Component	IDA[8137822]	220
GO:0005886	plasma membrane	Cellular Component		772
GO:0006103	2-oxoglutarate metabolic process	Biological Process		1
GO:0006101	citrate metabolic process	Biological Process		1
GO:0000255	allantoin metabolic process	Biological Process		1
GO:0000187	activation of MAPK activity	Biological Process		21
GO:0005515	protein binding	Molecular Function	IPI[10502458]	910
GO:0004903	growth hormone receptor activity	Molecular Function		1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	93
hsa04060	Cytokine-cytokine receptor interaction	38	Cytokines are soluble extracellular proteins or glycoprotein...... Cytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell growth, differentiation, cell death, angiogenesis, and development and repair processes aimed at the restoration of homeostasis. Cytokines are released by various cells in the body, usually in response to an activating stimulus, and they induce responses through binding to specific receptors on the cell surface of target cells. Cytokines can be grouped by structure into different families and their receptors can likewise be grouped. More...
hsa04630	Jak-STAT signaling pathway	22	The Janus kinase/signal transducers and activators of transc...... The Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeostasis in animals, from humans to flies. In mammals, the JAK/STAT pathway is the principal signaling mechanism for a wide array of cytokines and growth factors. Following the binding of cytokines to their cognate receptor, STATs are activated by members of the JAK family of tyrosine kinases. Once activated, they dimerize and translocate to the nucleus and modulate the expression of target genes. In addition to the activation of STATs, JAKs mediate the recruitment of other molecules such as the MAP kinases, PI3 kinase etc. These molecules process downstream signals via the Ras-Raf-MAP kinase and PI3 kinase pathways which results in the activation of additional transcription factors. More...

Genes shared at least 5 GO terms with GHR (count: 57)

Gene Symbol	Pathway Count	Pathway List
FGF10	8	positive regulation of peptidyl-tyrosine phosphorylation; cell surface; response to estradiol stimulus; extracellular space; extracellular region; nucleus; plasma membrane; activation of MAPK activity;
SNCA	8	response to interleukin-1; fatty acid metabolic process; receptor internalization; extracellular region; mitochondrion; nucleus; plasma membrane; protein binding;
PRLR	8	JAK-STAT cascade involved in growth hormone signaling pathway; integral to membrane; peptide hormone binding; cell surface; protein homodimerization activity; activation of JAK2 kinase activity; extracellular region; plasma membrane;
ACHE	8	cell surface; protein homodimerization activity; receptor internalization; extracellular space; extracellular region; nucleus; plasma membrane; protein binding;
ENPP1	7	integral to membrane; cell surface; protein homodimerization activity; cellular response to insulin stimulus; extracellular space; plasma membrane; protein binding;
ERBB2	7	integral to membrane; growth factor binding; receptor complex; protein phosphatase binding; nucleus; plasma membrane; protein binding;
CRYAB	7	cell surface; protein homodimerization activity; response to estradiol stimulus; mitochondrion; nucleus; plasma membrane; protein binding;
ADRA2A	7	protein kinase binding; protein homodimerization activity; receptor complex; cellular response to hormone stimulus; integral to plasma membrane; plasma membrane; protein binding;
FLT4	7	growth factor binding; protein phosphatase binding; extracellular region; nucleus; integral to plasma membrane; plasma membrane; protein binding;
IL6	6	positive regulation of peptidyl-tyrosine phosphorylation; response to glucocorticoid stimulus; negative regulation of neuron death; positive regulation of tyrosine phosphorylation of Stat3 protein; extracellular space; extracellular region;
VEGFA	6	positive regulation of peptidyl-tyrosine phosphorylation; cell surface; protein homodimerization activity; extracellular space; extracellular region; protein binding;
IGFBP2	6	response to glucocorticoid stimulus; response to estradiol stimulus; cellular response to hormone stimulus; extracellular space; extracellular region; protein binding;
PTPRK	6	integral to membrane; cell surface; protein kinase binding; neuronal cell body; integral to plasma membrane; protein binding;
SLC6A3	6	integral to membrane; neuronal cell body; positive regulation of multicellular organism growth; integral to plasma membrane; plasma membrane; protein binding;
ADRB2	6	protein homodimerization activity; receptor complex; nucleus; integral to plasma membrane; plasma membrane; protein binding;
ADRB3	6	protein homodimerization activity; receptor complex; nucleus; integral to plasma membrane; plasma membrane; protein binding;
ARRB2	5	positive regulation of peptidyl-tyrosine phosphorylation; receptor internalization; nucleus; plasma membrane; protein binding;
INS	5	positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of cell differentiation; extracellular space; extracellular region; protein binding;
MIF	5	positive regulation of peptidyl-tyrosine phosphorylation; cell surface; extracellular space; extracellular region; protein binding;
SEMA4D	5	positive regulation of peptidyl-tyrosine phosphorylation; extracellular space; integral to plasma membrane; plasma membrane; protein binding;
VEGFB	5	positive regulation of peptidyl-tyrosine phosphorylation; protein homodimerization activity; extracellular space; extracellular region; protein binding;
PIK3R1	5	insulin-like growth factor receptor signaling pathway; growth hormone receptor signaling pathway; protein phosphatase binding; plasma membrane; protein binding;
BAD	5	response to glucocorticoid stimulus; protein kinase binding; response to estradiol stimulus; mitochondrion; protein binding;
UCP3	5	response to glucocorticoid stimulus; integral to membrane; fatty acid metabolic process; cellular response to hormone stimulus; mitochondrion;
BMPR1B	5	positive regulation of cell differentiation; receptor complex; integral to plasma membrane; plasma membrane; protein binding;
CTGF	5	positive regulation of cell differentiation; response to estradiol stimulus; extracellular space; extracellular region; plasma membrane;
RELA	5	response to interleukin-1; protein kinase binding; response to morphine; nucleus; protein binding;
ADAM17	5	JAK-STAT cascade involved in growth hormone signaling pathway; cell surface; integral to plasma membrane; plasma membrane; protein binding;
MAPK1	5	JAK-STAT cascade involved in growth hormone signaling pathway; mitochondrion; nucleus; activation of MAPK activity; protein binding;
MAPK3	5	JAK-STAT cascade involved in growth hormone signaling pathway; mitochondrion; nucleus; activation of MAPK activity; protein binding;
JAM3	5	integral to membrane; protein homodimerization activity; extracellular space; plasma membrane; protein binding;
LRP5	5	integral to membrane; endocytosis; receptor complex; plasma membrane; protein binding;
MC4R	5	integral to membrane; peptide hormone binding; nucleus; plasma membrane; protein binding;
NCAM1	5	integral to membrane; cell surface; neuronal cell body; extracellular region; plasma membrane;
NPC1	5	integral to membrane; endocytosis; extracellular region; integral to plasma membrane; protein binding;
NRXN1	5	integral to membrane; cell surface; integral to plasma membrane; plasma membrane; protein binding;
PRSS8	5	integral to membrane; extracellular space; extracellular region; plasma membrane; protein binding;
PVRL1	5	integral to membrane; protein homodimerization activity; extracellular region; plasma membrane; protein binding;
SLC6A1	5	integral to membrane; cell surface; response to estradiol stimulus; integral to plasma membrane; plasma membrane;
SORT1	5	integral to membrane; cell surface; endocytosis; neuronal cell body; plasma membrane;
SREBF1	5	integral to membrane; protein kinase binding; response to food; nucleus; protein binding;
AMBP	5	cell surface; protein homodimerization activity; extracellular space; extracellular region; plasma membrane;
FZD4	5	cell surface; protein homodimerization activity; integral to plasma membrane; plasma membrane; protein binding;
LPAR1	5	cell surface; integral to plasma membrane; plasma membrane; activation of MAPK activity; protein binding;
LPL	5	cell surface; extracellular space; extracellular region; plasma membrane; protein binding;
PTPRJ	5	cell surface; protein kinase binding; integral to plasma membrane; plasma membrane; protein binding;
GSK3B	5	protein kinase binding; neuronal cell body; nucleus; plasma membrane; protein binding;
TH	5	fatty acid metabolic process; response to estradiol stimulus; mitochondrion; nucleus; protein binding;
IL12B	5	protein homodimerization activity; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; extracellular space; protein binding;
PYCARD	5	protein homodimerization activity; extracellular region; mitochondrion; nucleus; protein binding;
SLC6A4	5	protein homodimerization activity; response to estradiol stimulus; integral to plasma membrane; plasma membrane; protein binding;
DRD2	5	response to morphine; positive regulation of multicellular organism growth; integral to plasma membrane; plasma membrane; protein binding;
DRD3	5	response to morphine; regulation of multicellular organism growth; integral to plasma membrane; plasma membrane; protein binding;
TACR3	5	response to morphine; response to estradiol stimulus; nucleus; integral to plasma membrane; plasma membrane;
DRD4	5	neuronal cell body; integral to plasma membrane; plasma membrane; activation of MAPK activity; protein binding;
STRN3	5	neuronal cell body; response to estradiol stimulus; nucleus; plasma membrane; protein binding;
APOA1	5	extracellular space; extracellular region; nucleus; plasma membrane; protein binding;

Genes shared at least 2 KEGG pathways with GHR (count: 16)

Gene Symbol	Pathway Count	Pathway List
PRLR	3	Neuroactive ligand-receptor interaction; Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
CLCF1	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
CNTF	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
CNTFR	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
CTF1	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IFNGR1	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL10RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL11RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL12B	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL20RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL22RA2	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL5RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL6	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL7R	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
LIFR	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
OSMR	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;

View in gBrowse

Region: chr5:42423879..42721979 View in gBrowse