ADHDgene Database

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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	CREB5
Symbol Alias	H_GS165L15.1, CRE-BPA
Approved Name	cAMP responsive element binding protein 5
Name Alias	cAMP response element binding protein CRE-Bpa
Location	7p15
Position	chr7:28338940-28865511, +
External Links	HGNC: 16844 Entrez Gene: 9586 Ensembl: ENSG00000146592 UCSC: uc003szq.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Lesch KP, 2008	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2237349	Chr7:28762963(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs10486591	Chr7:28766878(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2237346	Chr7:28760077(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6972081	Chr7:28749046(Fwd)	intron_variant; nc_transcript_variant
rs2299110	Chr7:28759900(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs9690752	Chr7:28730571(Fwd)	intron_variant; nc_transcript_variant
rs4719947	Chr7:28734192(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
7p15	chr7:20900000-28800000	2 (1/1/0)

Gene related GO terms (count: 10)

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

GO terms by database search (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008270	zinc ion binding	Molecular Function		323
GO:0006366	transcription from RNA polymerase II promoter	Biological Process	TAS[8378084]	62
GO:0045444	fat cell differentiation	Biological Process		9
GO:0043565	sequence-specific DNA binding	Molecular Function		72
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	IDA[8378084]	132
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	Molecular Function		8
GO:0005634	nucleus	Cellular Component	IC[8378084]	770
GO:0005515	protein binding	Molecular Function	IPI[8440710]	910
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process	IDA[8378084]	80
GO:0060612	adipose tissue development	Biological Process		7

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04962	Vasopressin-regulated water reabsorption	6	In the kidney, the antidiuretic hormone vasopressin (AVP) is...... In the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adjusting the urinary water excretion. In normal physiology, AVP is secreted into the circulation by the posterior pituitary gland, in response to an increase in serum osmolality or a decrease in effective circulating volume. When reaching the kidney, AVP binds to V2 receptors on the basolateral surface of the collecting duct epithelium, triggering a G-protein-linked signaling cascade, which leads to water channel aquaporin-2 (AQP2) vesicle insertion into the apical plasma membrane. This results in higher water permeability in the collecting duct and, driven by an osmotic gradient, pro-urinary water then passes the membrane through AQP2 and leaves the cell on the basolateral side via AQP3 and AQP4 water channels, which are constitutively expressed on the basolateral side of these cells. When isotonicity is restored, reduced blood AVP levels results in AQP2 internalization, leaving the apical membrane watertight again. More...
hsa05215	Prostate cancer	13	Prostate cancer constitutes a major health problem in Wester...... Prostate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of key molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27), and androgens (AR) as critical determinants of the phenotype of prostate-cancer cells. Glutathione S-transferases (GSTP1) are detoxifying enzymes. Cells of prostatic intraepithelial neoplasia, devoid of GSTP1, undergo genomic damage mediated by carcinogens. NKX3.1, PTEN, and p27 regulate the growth and survival of prostate cells in the normal prostate. Inadequate levels of PTEN and NKX3.1 lead to a reduction in p27 levels and to increased proliferation and decreased apoptosis. Androgen receptor (AR) is a transcription factor that is normally activated by its androgen ligand. During androgen withdrawal therapy, the AR signal transduction pathway also could be activated by amplification of the AR gene, by AR gene mutations, or by altered activity of AR coactivators. Through these mechanisms, tumor cells lead to the emergence of androgen-independent prostate cancer. More...
hsa05016	Huntington's disease	28	Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More...

Genes shared at least 5 GO terms with CREB5 (count: 18)

Gene Symbol	Pathway Count	Pathway List
KLF4	6	zinc ion binding; transcription from RNA polymerase II promoter; fat cell differentiation; sequence-specific DNA binding transcription factor activity; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; positive regulation of transcription, DNA-dependent;
LHX1	6	zinc ion binding; transcription from RNA polymerase II promoter; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; positive regulation of transcription, DNA-dependent;
MLL	6	zinc ion binding; transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; positive regulation of transcription, DNA-dependent;
ETS1	6	transcription from RNA polymerase II promoter; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; positive regulation of transcription, DNA-dependent;
TFAP2A	6	transcription from RNA polymerase II promoter; sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; nucleus; protein binding; positive regulation of transcription, DNA-dependent;
GATA6	5	zinc ion binding; transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; protein binding;
HINFP	5	zinc ion binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; positive regulation of transcription, DNA-dependent;
LHX2	5	zinc ion binding; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; positive regulation of transcription, DNA-dependent;
LMX1B	5	zinc ion binding; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding;
MTA2	5	zinc ion binding; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding;
RREB1	5	zinc ion binding; transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; positive regulation of transcription, DNA-dependent;
ZNF24	5	zinc ion binding; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding;
FEV	5	transcription from RNA polymerase II promoter; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; positive regulation of transcription, DNA-dependent;
MEIS2	5	transcription from RNA polymerase II promoter; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding;
NCOR1	5	transcription from RNA polymerase II promoter; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding;
FOXC2	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; nucleus; positive regulation of transcription, DNA-dependent;
HNF1B	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; positive regulation of transcription, DNA-dependent;
RELA	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; protein binding; positive regulation of transcription, DNA-dependent;

Genes shared at least 2 KEGG pathways with CREB5 (count: 0)

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Region: chr7:28338940..28865511 View in gBrowse