Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ADRA1A
Previous Symbol	ADRA1C
Symbol Alias	ADRA1L1
Approved Name	adrenoceptor alpha 1A
Previous Name	adrenergic, alpha-1A-, receptor
Location	8p21.2
Position	chr8:26748150-26867273, -1
External Links	HGNC: 277 Entrez Gene: 148 Ensembl: ENSG00000120907 UCSC: uc003xfh.1
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Abou Jamra, R., 2004	Other variant: ADRA1A_492C>T	We observed no significant differences in transmissions for any of the genetic variants in the three ADRA genes.	Negative	Comment on Study
Fallin, M. D.,2005		8 SNP typed, Median D'=0.32, Median r<sup>2</sup> =0.02, 4 LD blocks, 0.33 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in SZ and all SNP or haplotype P-value > 0.05 in BP.. This gene is suggestive to SZ/SZA , not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 42)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[22120526]	283
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[8396931]	158

GO terms by database search (count: 39)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046982	protein heterodimerization activity	molecular function	IDA[22120526]	42
GO:0007568	aging	biological process	ISS	22
GO:0097195	pilomotor reflex	biological process	IEA	1
GO:0071875	adrenergic receptor signaling pathway	biological process	IEA; ISS; NAS[9490024]; TAS[10860850]	4
GO:0035556	intracellular signal transduction	biological process	TAS[10671514]	38
GO:0016049	cell growth	biological process	IEA	7
GO:0042493	response to drug	biological process	ISS	57
GO:0045760	positive regulation of action potential	biological process	ISS	3
GO:0031965	nuclear membrane	cellular component	IDA[22120526]	15
GO:0006939	smooth muscle contraction	biological process	TAS[8183249]	7
GO:0060452	positive regulation of cardiac muscle contraction	biological process	ISS	1
GO:0006915	apoptotic process	biological process	TAS[10671514]	39
GO:0007512	adult heart development	biological process	IEA	3
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[10860850]	64
GO:0070374	positive regulation of ERK1 and ERK2 cascade	biological process	ISS	14
GO:0090037	positive regulation of protein kinase C signaling	biological process	ISS	2
GO:0007204	positive regulation of cytosolic calcium ion concentration	biological process	ISS	21
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	biological process	IEA	11
GO:0007267	cell-cell signaling	biological process	TAS[8396931]	29
GO:0060402	calcium ion transport into cytosol	biological process	ISS	3
GO:0007202	activation of phospholipase C activity	biological process	ISS	15
GO:0008285	negative regulation of cell proliferation	biological process	TAS[10860850]	41
GO:0032230	positive regulation of synaptic transmission, GABAergic	biological process	ISS	5
GO:0045907	positive regulation of vasoconstriction	biological process	ISS	12
GO:0030018	Z disc	cellular component	IEA	16
GO:0035024	negative regulation of Rho protein signal transduction	biological process	ISS	2
GO:0030315	T-tubule	cellular component	IEA	8
GO:0045987	positive regulation of smooth muscle contraction	biological process	IEA	3
GO:0003084	positive regulation of systemic arterial blood pressure	biological process	IEA	1
GO:0001985	negative regulation of heart rate involved in baroreceptor response to increased systemic arterial blood pressure	biological process	IEA	1
GO:0004937	alpha1-adrenergic receptor activity	molecular function	ISS; NAS[9490024]; TAS[7737411]	2
GO:0007165	signal transduction	biological process	TAS[8396931]	136
GO:0001997	positive regulation of the force of heart contraction by epinephrine-norepinephrine	biological process	IEA	2
GO:0043410	positive regulation of MAPK cascade	biological process	IDA[22120526]	13
GO:0009725	response to hormone	biological process	ISS	4
GO:0035265	organ growth	biological process	IEA	4
GO:0060073	micturition	biological process	IEA	1
GO:0001994	norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure	biological process	IEA	2
GO:0001996	positive regulation of heart rate by epinephrine-norepinephrine	biological process	IEA	2

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ADRA1A	ADRA1D	NO	yeast 2-hybrid	15525470
ADRA1A	NOS1	YES	in vivo	12184796
ADRA1A	ABR	NO	in vitro;yeast 2-hybrid	15525470
ADRA1A	ADRA1B	YES	yeast 2-hybrid	15525470
ADRA1A	CXCR1	NO	in vivo	15946947
ADRA1A	RGS2	NO	in vitro	15917235
ADRA1A	FLNC	NO	yeast 2-hybrid	15525470
ADRA1A	PPP1R9B	NO	in vitro;in vivo	11154706
ADRA1A	CXCR2	NO	in vivo	15946947
ADRA1A	BMP1	NO	yeast 2-hybrid	15525470

Related other genetic factors

Gene related SNPs (count: 15)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10102186	chr8:26767134 - 26767134(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2036109	chr8:26759267 - 26759267(1)	intron_variant; NMD_transcript_variant	1(1/0/0)
rs1048101	chr8:26770511 - 26770511(1)	intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 12)

rs_ID	Location	Functional Annotation
rs6998591	chr8:26793305 - 26793305(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2055197	chr8:26812200 - 26812200(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs17055939	chr8:26757595 - 26757595(1)	intron_variant; NMD_transcript_variant
rs4732641	chr8:26760387 - 26760387(1)	intron_variant; NMD_transcript_variant
rs13277287	chr8:26771248 - 26771248(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs3802241	chr8:26765867 - 26765867(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant
rs4236678	chr8:26760849 - 26760849(1)	intron_variant; NMD_transcript_variant
rs3739215	chr8:26755891 - 26755891(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs2055195	chr8:26783508 - 26783508(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs6557946	chr8:26777072 - 26777072(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs937351	chr8:26773220 - 26773220(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7842829	chr8:26771819 - 26771819(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ADRA1A_492C>T	point mutation	exon 2	1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
8p21	chr8:19200000-29000000	2 (0/1/1)
Chr 8	chr8:0-145138636	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
16380905	This gene is suggestive to SZ/SZA , not suggestive to BP.	Trend

Overlap with SZ from candidate gene intersection analysis (count: 5)

Reference	ID in SZGene	Result Category
16380905	302	Trend
17408692	302	Negative
10696813	302	Negative
10940760	302	Negative
16043131	302	Positive

Gene relationship with MDD

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Region: chr8:26748150..26867273 View in gBrowse