Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

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	FLNC	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	RGS2	NO	in vitro	15917235
ADRA1A	ADRA1D	NO	yeast 2-hybrid	15525470
ADRA1A	CXCR1	NO	in vivo	15946947
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

View in gBrowse

Region: chr8:26748150..26867273 View in gBrowse