SZGR2

Summary ?

GeneID	92
Symbol	ACVR2A
Synonyms	ACTRII\|ACVR2
Description	activin A receptor type 2A
Reference	MIM:102581\|HGNC:HGNC:173\|Ensembl:ENSG00000121989\|HPRD:00025\|Vega:OTTHUMG00000150603
Gene type	protein-coding
Map location	2q22.3
Pascal p-value	0.046
Fetal beta	1.173
DMG	1 (# studies)
eGene	Myers' cis & trans

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
DMG:Nishioka_2013	Genome-wide DNA methylation analysis	The authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls.	1
GSMA_I	Genome scan meta-analysis	Psr: 0.023
GSMA_IIA	Genome scan meta-analysis (All samples)	Psr: 0.02395

Section I. Genetics and epigenetics annotation

Differentially methylated gene

Probe	Chromosome	Position	Nearest gene	P (dis)	Beta (dis)	FDR (dis)	Study
cg22464182	2	148602625	ACVR2A		-0.024	0.25	DMG:Nishioka_2013

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	pvalue	qvalue	TSS distance	eQTL type
rs5973375	chrX	35489060	ACVR2A	92		0.14		trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
ABHD14A	0.96	0.95
TEX264	0.87	0.83
ISOC2	0.86	0.88
CYC1	0.84	0.81
FASTK	0.84	0.83
MARCH2	0.84	0.81
MFSD3	0.83	0.86
C11orf59	0.83	0.86
SLC25A11	0.83	0.78
GPX4	0.83	0.83

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
EIF5B	-0.60	-0.70
RBM25	-0.53	-0.55
SFRS12	-0.53	-0.53
ZNF326	-0.52	-0.50
AC005921.3	-0.49	-0.69
THOC2	-0.48	-0.47
PPIG	-0.47	-0.45
PRPF38B	-0.47	-0.47
SFRS18	-0.46	-0.58
ESF1	-0.45	-0.41

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0000166	nucleotide binding	IEA		-
GO:0000287	magnesium ion binding	IEA		-
GO:0005524	ATP binding	IEA		-
GO:0016740	transferase activity	IEA		-
GO:0019838	growth factor binding	IEA		-
GO:0017002	activin receptor activity	IDA		12665502
GO:0015026	coreceptor activity	IDA		10746731
GO:0030145	manganese ion binding	IEA		-
GO:0048185	activin binding	IPI		9032295
GO:0048186	inhibin beta-A binding	IDA		7890768
GO:0043621	protein self-association	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0001702	gastrulation with mouth forming second	IEA		-
GO:0006468	protein amino acid phosphorylation	IEA		-
GO:0007368	determination of left/right symmetry	IEA		-
GO:0007283	spermatogenesis	IEA		-
GO:0009952	anterior/posterior pattern formation	IEA		-
GO:0007498	mesoderm development	IEA		-
GO:0050999	regulation of nitric-oxide synthase activity	IEA		-
GO:0042713	sperm ejaculation	IEA		-
GO:0030501	positive regulation of bone mineralization	IMP		18436533
GO:0030509	BMP signaling pathway	EXP		15621726
GO:0030509	BMP signaling pathway	IDA		18436533
GO:0043084	penile erection	IEA		-
GO:0032927	positive regulation of activin receptor signaling pathway	IDA		12665502
GO:0045648	positive regulation of erythrocyte differentiation	IDA		9032295
GO:0045669	positive regulation of osteoblast differentiation	IMP		18436533
GO:0048706	embryonic skeletal system development	IEA		-
GO:0060011	Sertoli cell proliferation	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005737	cytoplasm	IDA		14738881
GO:0005886	plasma membrane	EXP		17356069
GO:0005887	integral to plasma membrane	TAS		1314589

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ACVR1B	ACTRIB \| ACVRLK4 \| ALK4 \| SKR2	activin A receptor, type IB	-	HPRD,BioGRID	8612709
BMP6	VGR \| VGR1	bone morphogenetic protein 6	-	HPRD,BioGRID	10504300
BMP7	OP-1	bone morphogenetic protein 7	-	HPRD,BioGRID	9748228
ENG	CD105 \| END \| FLJ41744 \| HHT1 \| ORW \| ORW1	endoglin	-	HPRD,BioGRID	9872992
GDF5	BMP14 \| CDMP1 \| LAP4 \| SYNS2	growth differentiation factor 5	-	HPRD,BioGRID	8702914
GDF9	-	growth differentiation factor 9	-	HPRD	12135884
IGSF1	IGCD1 \| IGDC1 \| INHBP \| KIAA0364 \| MGC75490 \| PGSF2	immunoglobulin superfamily, member 1	-	HPRD	11266516
INHA	-	inhibin, alpha	Affinity Capture-Western	BioGRID	10746731
INHBA	EDF \| FRP	inhibin, beta A	Affinity Capture-Western	BioGRID	9202237 \|10746731
INHBA	EDF \| FRP	inhibin, beta A	-	HPRD	11266516
INHBB	MGC157939	inhibin, beta B	Affinity Capture-Western	BioGRID	9202237
INHBB	MGC157939	inhibin, beta B	-	HPRD	11266516
INHBC	IHBC	inhibin, beta C	-	HPRD	12651901
MAGI2	ACVRIP1 \| AIP1 \| ARIP1 \| MAGI-2 \| SSCAM	membrane associated guanylate kinase, WW and PDZ domain containing 2	-	HPRD	10681527
SYNJ2BP	ARIP2 \| FLJ11271 \| FLJ41973 \| OMP25	synaptojanin 2 binding protein	-	HPRD,BioGRID	11882656 \|15451561
TGFBR3	BGCAN \| betaglycan	transforming growth factor, beta receptor III	-	HPRD	10746731

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG CYTOKINE CYTOKINE RECEPTOR INTERACTION	267	161	All SZGR 2.0 genes in this pathway
KEGG TGF BETA SIGNALING PATHWAY	86	64	All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY	26	21	All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY	396	292	All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NODAL	18	11	All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY BMP	23	15	All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP	485	293	All SZGR 2.0 genes in this pathway
HUTTMANN B CLL POOR SURVIVAL UP	276	187	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 TTD DN	84	63	All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP	811	508	All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS UP	344	180	All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215	893	528	All SZGR 2.0 genes in this pathway
CHIARETTI ACUTE LYMPHOBLASTIC LEUKEMIA ZAP70	67	33	All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE UP	244	165	All SZGR 2.0 genes in this pathway
ZHU CMV 8 HR DN	53	40	All SZGR 2.0 genes in this pathway
CHANG IMMORTALIZED BY HPV31 UP	84	55	All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN	128	93	All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 11	57	40	All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 9	92	59	All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3	720	440	All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP	578	341	All SZGR 2.0 genes in this pathway
MATZUK CENTRAL FOR FEMALE FERTILITY	29	25	All SZGR 2.0 genes in this pathway
MATZUK MALE REPRODUCTION SERTOLI	28	23	All SZGR 2.0 genes in this pathway
BONCI TARGETS OF MIR15A AND MIR16 1	91	75	All SZGR 2.0 genes in this pathway
LINDSTEDT DENDRITIC CELL MATURATION A	67	52	All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP	1305	895	All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN	435	289	All SZGR 2.0 genes in this pathway
NAKAMURA ADIPOGENESIS EARLY UP	66	44	All SZGR 2.0 genes in this pathway
NAKAMURA ADIPOGENESIS LATE UP	104	67	All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP	489	314	All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family	Target position			miRNA ID	miRNA seq
miRNA family	UTR start	UTR end	Match method	miRNA ID	miRNA seq
let-7/98	589	595	1A	hsa-let-7a^brain	UGAGGUAGUAGGUUGUAUAGUU
				hsa-let-7b^brain	UGAGGUAGUAGGUUGUGUGGUU
				hsa-let-7c^brain	UGAGGUAGUAGGUUGUAUGGUU
				hsa-let-7d^brain	AGAGGUAGUAGGUUGCAUAGU
				hsa-let-7e^brain	UGAGGUAGGAGGUUGUAUAGU
				hsa-let-7f^brain	UGAGGUAGUAGAUUGUAUAGUU
				hsa-miR-98^brain	UGAGGUAGUAAGUUGUAUUGUU
				hsa-let-7g^SZ	UGAGGUAGUAGUUUGUACAGU
				hsa-let-7i^brain	UGAGGUAGUAGUUUGUGCUGU
				hsa-let-7a^brain	UGAGGUAGUAGGUUGUAUAGUU
				hsa-let-7b^brain	UGAGGUAGUAGGUUGUGUGGUU
				hsa-let-7c^brain	UGAGGUAGUAGGUUGUAUGGUU
				hsa-let-7d^brain	AGAGGUAGUAGGUUGCAUAGU
				hsa-let-7e^brain	UGAGGUAGGAGGUUGUAUAGU
				hsa-let-7f^brain	UGAGGUAGUAGAUUGUAUAGUU
				hsa-miR-98^brain	UGAGGUAGUAAGUUGUAUUGUU
				hsa-let-7g^SZ	UGAGGUAGUAGUUUGUACAGU
				hsa-let-7i^brain	UGAGGUAGUAGUUUGUGCUGU
miR-1/206	3512	3518	1A	hsa-miR-1	UGGAAUGUAAAGAAGUAUGUA
				hsa-miR-206^SZ	UGGAAUGUAAGGAAGUGUGUGG
				hsa-miR-613	AGGAAUGUUCCUUCUUUGCC
miR-124.1	1420	1426	m8	hsa-miR-124a	UUAAGGCACGCGGUGAAUGCCA
miR-124/506	1420	1426	1A	hsa-miR-506	UAAGGCACCCUUCUGAGUAGA
miR-124/506	1420	1426	1A	hsa-miR-124^brain	UAAGGCACGCGGUGAAUGCC
miR-125/351	1279	1285	1A	hsa-miR-125b^brain	UCCCUGAGACCCUAACUUGUGA
miR-125/351	1279	1285	1A	hsa-miR-125a^brain	UCCCUGAGACCCUUUAACCUGUG
miR-128	676	682	m8	hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
				hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
				hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
				hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
miR-130/301	2853	2860	1A,m8	hsa-miR-130a^brain	CAGUGCAAUGUUAAAAGGGCAU
				hsa-miR-301	CAGUGCAAUAGUAUUGUCAAAGC
				hsa-miR-130b^brain	CAGUGCAAUGAUGAAAGGGCAU
				hsa-miR-454-3p	UAGUGCAAUAUUGCUUAUAGGGUUU
miR-138	3266	3272	1A	hsa-miR-138^brain	AGCUGGUGUUGUGAAUC
miR-141/200a	2689	2695	m8	hsa-miR-141	UAACACUGUCUGGUAAAGAUGG
				hsa-miR-200a	UAACACUGUCUGGUAACGAUGU
				hsa-miR-141	UAACACUGUCUGGUAAAGAUGG
				hsa-miR-200a	UAACACUGUCUGGUAACGAUGU
miR-142-3p	1725	1732	1A,m8	hsa-miR-142-3p	UGUAGUGUUUCCUACUUUAUGGA
miR-145	970	976	1A	hsa-miR-145	GUCCAGUUUUCCCAGGAAUCCCUU
miR-145	970	976	1A	hsa-miR-145	GUCCAGUUUUCCCAGGAAUCCCUU
miR-15/16/195/424/497	47	53	1A	hsa-miR-15a^brain	UAGCAGCACAUAAUGGUUUGUG
				hsa-miR-16^brain	UAGCAGCACGUAAAUAUUGGCG
				hsa-miR-15b^brain	UAGCAGCACAUCAUGGUUUACA
				hsa-miR-195^SZ	UAGCAGCACAGAAAUAUUGGC
				hsa-miR-424	CAGCAGCAAUUCAUGUUUUGAA
				hsa-miR-497	CAGCAGCACACUGUGGUUUGU
				hsa-miR-15a^brain	UAGCAGCACAUAAUGGUUUGUG
				hsa-miR-16^brain	UAGCAGCACGUAAAUAUUGGCG
				hsa-miR-15b^brain	UAGCAGCACAUCAUGGUUUACA
				hsa-miR-195^SZ	UAGCAGCACAGAAAUAUUGGC
				hsa-miR-424	CAGCAGCAAUUCAUGUUUUGAA
				hsa-miR-497	CAGCAGCACACUGUGGUUUGU
				hsa-miR-15a^brain	UAGCAGCACAUAAUGGUUUGUG
				hsa-miR-16^brain	UAGCAGCACGUAAAUAUUGGCG
				hsa-miR-15b^brain	UAGCAGCACAUCAUGGUUUACA
				hsa-miR-195^SZ	UAGCAGCACAGAAAUAUUGGC
				hsa-miR-424	CAGCAGCAAUUCAUGUUUUGAA
				hsa-miR-497	CAGCAGCACACUGUGGUUUGU
				hsa-miR-15a^brain	UAGCAGCACAUAAUGGUUUGUG
				hsa-miR-16^brain	UAGCAGCACGUAAAUAUUGGCG
				hsa-miR-15b^brain	UAGCAGCACAUCAUGGUUUACA
				hsa-miR-195^SZ	UAGCAGCACAGAAAUAUUGGC
				hsa-miR-424	CAGCAGCAAUUCAUGUUUUGAA
				hsa-miR-497	CAGCAGCACACUGUGGUUUGU
miR-150	153	159	1A	hsa-miR-150	UCUCCCAACCCUUGUACCAGUG
miR-153	1312	1318	1A	hsa-miR-153	UUGCAUAGUCACAAAAGUGA
miR-155	559	565	m8	hsa-miR-155	UUAAUGCUAAUCGUGAUAGGGG
miR-181	489	495	m8	hsa-miR-181a^brain	AACAUUCAACGCUGUCGGUGAGU
				hsa-miR-181b^SZ	AACAUUCAUUGCUGUCGGUGGG
				hsa-miR-181c^brain	AACAUUCAACCUGUCGGUGAGU
				hsa-miR-181d^brain	AACAUUCAUUGUUGUCGGUGGGUU
miR-183	1170	1176	m8	hsa-miR-183	UAUGGCACUGGUAGAAUUCACUG
miR-185	265	271	1A	hsa-miR-185^brain	UGGAGAGAAAGGCAGUUC
miR-188	1281	1287	1A	hsa-miR-188	CAUCCCUUGCAUGGUGGAGGGU
miR-192/215	1797	1804	1A,m8	hsa-miR-192	CUGACCUAUGAAUUGACAGCC
miR-192/215	1797	1804	1A,m8	hsa-miR-215	AUGACCUAUGAAUUGACAGAC
miR-193	1591	1597	1A	hsa-miR-193a	AACUGGCCUACAAAGUCCCAG
miR-193	1591	1597	1A	hsa-miR-193b	AACUGGCCCUCAAAGUCCCGCUUU
miR-196	2341	2347	m8	hsa-miR-196a	UAGGUAGUUUCAUGUUGUUGG
miR-196	2341	2347	m8	hsa-miR-196b	UAGGUAGUUUCCUGUUGUUGG
miR-199	968	975	1A,m8	hsa-miR-199a	CCCAGUGUUCAGACUACCUGUUC
miR-199	968	975	1A,m8	hsa-miR-199b	CCCAGUGUUUAGACUAUCUGUUC
miR-200bc/429	1593	1600	1A,m8	hsa-miR-200b	UAAUACUGCCUGGUAAUGAUGAC
				hsa-miR-200c	UAAUACUGCCGGGUAAUGAUGG
				hsa-miR-429	UAAUACUGUCUGGUAAAACCGU
miR-203.1	398	404	1A	hsa-miR-203	UGAAAUGUUUAGGACCACUAG
miR-21	52	58	1A	hsa-miR-21^brain	UAGCUUAUCAGACUGAUGUUGA
				hsa-miR-590	GAGCUUAUUCAUAAAAGUGCAG
				hsa-miR-21^brain	UAGCUUAUCAGACUGAUGUUGA
				hsa-miR-590	GAGCUUAUUCAUAAAAGUGCAG
miR-217	3284	3290	m8	hsa-miR-217	UACUGCAUCAGGAACUGAUUGGAU
miR-223	312	319	1A,m8	hsa-miR-223	UGUCAGUUUGUCAAAUACCCC
miR-27	1682	1689	1A,m8	hsa-miR-27a^brain	UUCACAGUGGCUAAGUUCCGC
miR-27	1682	1689	1A,m8	hsa-miR-27b^brain	UUCACAGUGGCUAAGUUCUGC
miR-29	2544	2550	m8	hsa-miR-29a^SZ	UAGCACCAUCUGAAAUCGGUU
				hsa-miR-29b^SZ	UAGCACCAUUUGAAAUCAGUGUU
				hsa-miR-29c^SZ	UAGCACCAUUUGAAAUCGGU
miR-30-5p	2401	2407	1A	hsa-miR-30a-5p	UGUAAACAUCCUCGACUGGAAG
				hsa-miR-30c^brain	UGUAAACAUCCUACACUCUCAGC
				hsa-miR-30d^SZ	UGUAAACAUCCCCGACUGGAAG
				hsa-miR-30b^SZ	UGUAAACAUCCUACACUCAGCU
				hsa-miR-30e-5p	UGUAAACAUCCUUGACUGGA
miR-362	275	281	m8	hsa-miR-362	AAUCCUUGGAACCUAGGUGUGAGU
miR-369-3p	1595	1601	m8	hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
miR-374	612	618	1A	hsa-miR-374	UUAUAAUACAACCUGAUAAGUG
miR-378	1095	1101	1A	hsa-miR-378	CUCCUGACUCCAGGUCCUGUGU
miR-380-5p	3263	3269	1A	hsa-miR-380-5p	UGGUUGACCAUAGAACAUGCGC
miR-380-5p	3263	3269	1A	hsa-miR-563	AGGUUGACAUACGUUUCCC
miR-381	2729	2735	m8	hsa-miR-381	UAUACAAGGGCAAGCUCUCUGU
miR-409-5p	1330	1337	1A,m8	hsa-miR-409-5p	AGGUUACCCGAGCAACUUUGCA
miR-448	1311	1318	1A,m8	hsa-miR-448	UUGCAUAUGUAGGAUGUCCCAU
miR-493-5p	3486	3492	1A	hsa-miR-493-5p	UUGUACAUGGUAGGCUUUCAUU
miR-495	3307	3313	1A	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-503	47	53	1A	hsa-miR-503	UAGCAGCGGGAACAGUUCUGCAG
miR-543	2328	2334	m8	hsa-miR-543	AAACAUUCGCGGUGCACUUCU
miR-96	715	721	m8	hsa-miR-96^brain	UUUGGCACUAGCACAUUUUUGC

SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.

Gene Page: ACVR2A