SZGR2

Summary ?

GeneID	90
Symbol	ACVR1
Synonyms	ACTRI\|ACVR1A\|ACVRLK2\|ALK2\|FOP\|SKR1\|TSRI
Description	activin A receptor type 1
Reference	MIM:102576\|HGNC:HGNC:171\|Ensembl:ENSG00000115170\|HPRD:00021\|Vega:OTTHUMG00000131967
Gene type	protein-coding
Map location	2q23-q24
Pascal p-value	0.326
Sherlock p-value	0.008
Fetal beta	0.774

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
PMID:cooccur	High-throughput literature-search	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIA	Genome scan meta-analysis (All samples)	Psr: 0.02395
Literature	High-throughput literature-search	Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias	Click to show details

Section I. Genetics and epigenetics annotation

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
RAD54L2	0.94	0.93
CELSR3	0.93	0.92
KIAA1549	0.93	0.92
USP49	0.93	0.92
DCX	0.93	0.90
IGF1R	0.93	0.93
ZMIZ1	0.92	0.91
BEND3	0.92	0.91
C20orf117	0.91	0.92
PLXNA2	0.91	0.89

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
C5orf53	-0.61	-0.76
HLA-F	-0.59	-0.74
AIFM3	-0.59	-0.74
SLC16A11	-0.59	-0.64
ALDOC	-0.59	-0.70
SERPINB6	-0.58	-0.70
LHPP	-0.58	-0.59
PTH1R	-0.58	-0.71
HEPN1	-0.58	-0.70
FBXO2	-0.58	-0.62

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:0004872	receptor activity	IEA		-
GO:0005524	ATP binding	IDA		12065756
GO:0016740	transferase activity	IEA		-
GO:0016361	activin receptor activity, type I	IDA		8242742
GO:0042803	protein homodimerization activity	IDA		18436533
GO:0030145	manganese ion binding	IEA		-
GO:0048184	follistatin binding	NAS		12702211
GO:0048185	activin binding	IDA		8242742
GO:0046332	SMAD binding	IDA		12065756
GO:0050431	transforming growth factor beta binding	IDA		8242742
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0000082	G1/S transition of mitotic cell cycle	IMP		9884026
GO:0001755	neural crest cell migration	IEA		-
GO:0001569	patterning of blood vessels	IEA		-
GO:0001701	in utero embryonic development	IEA		-
GO:0001702	gastrulation with mouth forming second	IEA		-
GO:0001707	mesoderm formation	IEA		-
GO:0002526	acute inflammatory response	IEA		-
GO:0006468	protein amino acid phosphorylation	IDA		12065756
GO:0007368	determination of left/right symmetry	IEA		-
GO:0007281	germ cell development	IEA		-
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA		8242742
GO:0009790	embryonic development	IEA		-
GO:0007507	heart development	IEA		-
GO:0007498	mesoderm development	IEA		-
GO:0043066	negative regulation of apoptosis	IMP		9884026
GO:0060037	pharyngeal system development	IEA		-
GO:0030501	positive regulation of bone mineralization	IMP		18436533
GO:0030509	BMP signaling pathway	IDA		18436533
GO:0051145	smooth muscle cell differentiation	IEA		-
GO:0030278	regulation of ossification	IMP		16642017
GO:0032926	negative regulation of activin receptor signaling pathway	IMP		9884026
GO:0045941	positive regulation of transcription	IDA		8242742
GO:0045669	positive regulation of osteoblast differentiation	IMP		18436533
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0016020	membrane	IEA		-
GO:0045177	apical part of cell	IEA		-
GO:0048179	activin receptor complex	IDA		8242742

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
BMP2	BMP2A	bone morphogenetic protein 2	-	HPRD	8006002
BMP7	OP-1	bone morphogenetic protein 7	-	HPRD,BioGRID	8006002
BMPR2	BMPR-II \| BMPR3 \| BMR2 \| BRK-3 \| FLJ41585 \| FLJ76945 \| PPH1 \| T-ALK	bone morphogenetic protein receptor, type II (serine/threonine kinase)	Affinity Capture-Western Two-hybrid	BioGRID	7791754
ENG	CD105 \| END \| FLJ41744 \| HHT1 \| ORW \| ORW1	endoglin	-	HPRD,BioGRID	9872992
FNTA	FPTA \| MGC99680 \| PGGT1A \| PTAR2	farnesyltransferase, CAAX box, alpha	-	HPRD,BioGRID	8599089
GDF5	BMP14 \| CDMP1 \| LAP4 \| SYNS2	growth differentiation factor 5	-	HPRD,BioGRID	8702914
IGSF1	IGCD1 \| IGDC1 \| INHBP \| KIAA0364 \| MGC75490 \| PGSF2	immunoglobulin superfamily, member 1	-	HPRD	11266516
INHBA	EDF \| FRP	inhibin, beta A	-	HPRD	11266516
INHBB	MGC157939	inhibin, beta B	-	HPRD	11266516
INHBC	IHBC	inhibin, beta C	-	HPRD	12651901
SMAD1	BSP1 \| JV4-1 \| JV41 \| MADH1 \| MADR1	SMAD family member 1	-	HPRD	9748228 \|10583507 \|10652350
SMAD1	BSP1 \| JV4-1 \| JV41 \| MADH1 \| MADR1	SMAD family member 1	Affinity Capture-Western	BioGRID	9748228 \|10652350
SMAD5	DKFZp781C1895 \| DKFZp781O1323 \| Dwfc \| JV5-1 \| MADH5	SMAD family member 5	Affinity Capture-Western	BioGRID	9748228 \|10652350
SMAD5	DKFZp781C1895 \| DKFZp781O1323 \| Dwfc \| JV5-1 \| MADH5	SMAD family member 5	-	HPRD	9748228 \|10583507 \|10652350

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
BIOCARTA ALK PATHWAY	37	29	All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY	26	21	All SZGR 2.0 genes in this pathway
PID ALK2 PATHWAY	11	9	All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN	169	118	All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP	1382	904	All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS TURQUOISE UP	79	50	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN	1781	1082	All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS	1174	695	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN	855	609	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN	483	336	All SZGR 2.0 genes in this pathway
GRUETZMANN PANCREATIC CANCER UP	358	245	All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP	811	508	All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP	424	268	All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN	309	206	All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION UP	140	83	All SZGR 2.0 genes in this pathway
DORSEY GAB2 TARGETS	31	17	All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN	228	146	All SZGR 2.0 genes in this pathway
SARTIPY BLUNTED BY INSULIN RESISTANCE DN	18	14	All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP	578	341	All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 2D UP	69	46	All SZGR 2.0 genes in this pathway
RAY TUMORIGENESIS BY ERBB2 CDC25A UP	104	57	All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB UP	245	159	All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS DN	366	257	All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS DN	457	302	All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE DN	138	99	All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN	505	328	All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE EARLY LATE	317	190	All SZGR 2.0 genes in this pathway
IKEDA MIR1 TARGETS UP	53	39	All SZGR 2.0 genes in this pathway
IKEDA MIR30 TARGETS UP	116	87	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
miR-103/107	568	574	1A	hsa-miR-103^brain	AGCAGCAUUGUACAGGGCUAUGA
miR-103/107	568	574	1A	hsa-miR-107^brain	AGCAGCAUUGUACAGGGCUAUCA
miR-128	191	197	1A	hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
miR-128	191	197	1A	hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
miR-130/301	419	426	1A,m8	hsa-miR-130a^brain	CAGUGCAAUGUUAAAAGGGCAU
				hsa-miR-301	CAGUGCAAUAGUAUUGUCAAAGC
				hsa-miR-130b^brain	CAGUGCAAUGAUGAAAGGGCAU
				hsa-miR-454-3p	UAGUGCAAUAUUGCUUAUAGGGUUU
				hsa-miR-130a^brain	CAGUGCAAUGUUAAAAGGGCAU
				hsa-miR-301	CAGUGCAAUAGUAUUGUCAAAGC
				hsa-miR-130b^brain	CAGUGCAAUGAUGAAAGGGCAU
				hsa-miR-454-3p	UAGUGCAAUAUUGCUUAUAGGGUUU
miR-137	390	396	1A	hsa-miR-137	UAUUGCUUAAGAAUACGCGUAG
miR-140	167	173	m8	hsa-miR-140^brain	AGUGGUUUUACCCUAUGGUAG
miR-148/152	449	455	m8	hsa-miR-148a	UCAGUGCACUACAGAACUUUGU
				hsa-miR-152^brain	UCAGUGCAUGACAGAACUUGGG
				hsa-miR-148b	UCAGUGCAUCACAGAACUUUGU
miR-182	481	488	1A,m8	hsa-miR-182	UUUGGCAAUGGUAGAACUCACA
miR-27	191	198	1A,m8	hsa-miR-27a^brain	UUCACAGUGGCUAAGUUCCGC
miR-27	191	198	1A,m8	hsa-miR-27b^brain	UUCACAGUGGCUAAGUUCUGC
miR-30-5p	592	599	1A,m8	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-31	480	486	1A	hsa-miR-31	AGGCAAGAUGCUGGCAUAGCUG
miR-329	820	826	1A	hsa-miR-329^brain	AACACACCUGGUUAACCUCUUU
miR-330	117	124	1A,m8	hsa-miR-330^brain	GCAAAGCACACGGCCUGCAGAGA
miR-338	61	67	m8	hsa-miR-338^brain	UCCAGCAUCAGUGAUUUUGUUGA
miR-365	302	309	1A,m8	hsa-miR-365	UAAUGCCCCUAAAAAUCCUUAU
miR-381	1052	1058	1A	hsa-miR-381	UAUACAAGGGCAAGCUCUCUGU
miR-382	630	636	m8	hsa-miR-382^brain	GAAGUUGUUCGUGGUGGAUUCG
miR-384	424	430	m8	hsa-miR-384	AUUCCUAGAAAUUGUUCAUA
miR-93.hd/291-3p/294/295/302/372/373/520	658	664	1A	hsa-miR-93^brain	AAAGUGCUGUUCGUGCAGGUAG
				hsa-miR-302a	UAAGUGCUUCCAUGUUUUGGUGA
				hsa-miR-302b	UAAGUGCUUCCAUGUUUUAGUAG
				hsa-miR-302c	UAAGUGCUUCCAUGUUUCAGUGG
				hsa-miR-302d	UAAGUGCUUCCAUGUUUGAGUGU
				hsa-miR-372	AAAGUGCUGCGACAUUUGAGCGU
				hsa-miR-373	GAAGUGCUUCGAUUUUGGGGUGU
				hsa-miR-520e	AAAGUGCUUCCUUUUUGAGGG
				hsa-miR-520a	AAAGUGCUUCCCUUUGGACUGU
				hsa-miR-520b	AAAGUGCUUCCUUUUAGAGGG
				hsa-miR-520c	AAAGUGCUUCCUUUUAGAGGGUU
				hsa-miR-520d	AAAGUGCUUCUCUUUGGUGGGUU
miR-96	482	488	1A	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: ACVR1