Summary ?
GeneID93
SymbolACVR2B
SynonymsACTRIIB|ActR-IIB|HTX4
Descriptionactivin A receptor type 2B
ReferenceMIM:602730|HGNC:HGNC:174|Ensembl:ENSG00000114739|HPRD:04106|Vega:OTTHUMG00000131291
Gene typeprotein-coding
Map location3p22
Pascal p-value2.88E-4
Sherlock p-value0.461
eGeneCerebellar Hemisphere
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GSMA_IGenome scan meta-analysisPsr: 0.006 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16829545chr2151977407ACVR2B930.04trans
rs104737510ACVR2B930.17trans
rs16955618chr1529937543ACVR2B930.18trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0000287magnesium ion bindingIEA-
GO:0004872receptor activityIEA-
GO:0005524ATP bindingIEA-
GO:0016740transferase activityIEA-
GO:0019838growth factor bindingIPI14517293 
GO:0016362activin receptor activity, type IITAS8622651 
GO:0030145manganese ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006468protein amino acid phosphorylationIEA-
GO:0009952anterior/posterior pattern formationIMP9916847 
GO:0007165signal transductionIDA8622651 
GO:0030501positive regulation of bone mineralizationIMP18436533 
GO:0030509BMP signaling pathwayEXP15621726 
GO:0030509BMP signaling pathwayIDA18436533 
GO:0032927positive regulation of activin receptor signaling pathwayIDA8622651 
GO:0045669positive regulation of osteoblast differentiationIMP18436533 
GO:0045449regulation of transcriptionIDA8622651 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIDA14738881 
GO:0009986cell surfaceIDA12493773 
GO:0005886plasma membraneEXP17356069 
GO:0005887integral to plasma membraneTAS8161782 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ACVR1BACTRIB | ACVRLK4 | ALK4 | SKR2activin A receptor, type IB-HPRD8612709|8622651 
ACVR1BACTRIB | ACVRLK4 | ALK4 | SKR2activin A receptor, type IB-HPRD,BioGRID8612709 
BMP6VGR | VGR1bone morphogenetic protein 6Affinity Capture-WesternBioGRID10504300 
BMP7OP-1bone morphogenetic protein 7-HPRD,BioGRID9748228 
ENGCD105 | END | FLJ41744 | HHT1 | ORW | ORW1endoglinAffinity Capture-WesternBioGRID9872992 
GDF11BMP-11 | BMP11growth differentiation factor 11-HPRD,BioGRID10391213 
GDF5BMP14 | CDMP1 | LAP4 | SYNS2growth differentiation factor 5-HPRD,BioGRID8702914 
IGSF1IGCD1 | IGDC1 | INHBP | KIAA0364 | MGC75490 | PGSF2immunoglobulin superfamily, member 1-HPRD11266516 
INHBAEDF | FRPinhibin, beta A-HPRD,BioGRID9202237 
INHBBMGC157939inhibin, beta B-HPRD,BioGRID9202237 
INHBCIHBCinhibin, beta C-HPRD12651901 
MSTNGDF8myostatin-HPRD,BioGRID11459935 
SNX1HsT17379 | MGC8664 | SNX1A | Vps5sorting nexin 1-HPRD,BioGRID11279102 
SNX2MGC5204 | TRG-9sorting nexin 2Affinity Capture-WesternBioGRID11279102 
SNX6MGC3157 | MSTP010 | TFAF2sorting nexin 6-HPRD,BioGRID11279102 
SYNJ2BPARIP2 | FLJ11271 | FLJ41973 | OMP25synaptojanin 2 binding protein-HPRD,BioGRID11882656 |15451561 
TGFBRAP1TRAP-1 | TRAP1transforming growth factor, beta receptor associated protein 1-HPRD11278302 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CYTOKINE CYTOKINE RECEPTOR INTERACTION 267161All SZGR 2.0 genes in this pathway
KEGG TGF BETA SIGNALING PATHWAY 8664All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY 2621All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396292All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NODAL 1811All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY BMP 2315All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA UP 368234All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS UP 306188All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS DN 13976All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 3 4831All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY UP 236139All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
CHANG IMMORTALIZED BY HPV31 DN 6545All SZGR 2.0 genes in this pathway
SU PLACENTA 3018All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
LI INDUCED T TO NATURAL KILLER DN 11683All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
RAFFEL VEGFA TARGETS UP 98All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS UP 279155All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
let-7/98145614621Ahsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU
hsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU
miR-1012142201Ahsa-miR-101UACAGUACUGUGAUAACUGAAG
miR-103/1074024091A,m8hsa-miR-103brainAGCAGCAUUGUACAGGGCUAUGA
hsa-miR-107brainAGCAGCAUUGUACAGGGCUAUCA
miR-124/50672027208m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-132/2124354421A,m8hsa-miR-212SZUAACAGUCUCCAGUCACGGCC
hsa-miR-132brainUAACAGUCUACAGCCAUGGUCG
miR-1381992051Ahsa-miR-138brainAGCUGGUGUUGUGAAUC
miR-1442142201Ahsa-miR-144UACAGUAUAGAUGAUGUACUAG
miR-148/15296649670m8hsa-miR-148aUCAGUGCACUACAGAACUUUGU
hsa-miR-152brainUCAGUGCAUGACAGAACUUGGG
hsa-miR-148bUCAGUGCAUCACAGAACUUUGU
miR-15/16/195/424/4971091151Ahsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
miR-181969196981A,m8hsa-miR-181abrainAACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZAACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrainAACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrainAACAUUCAUUGUUGUCGGUGGGUU
hsa-miR-181abrainAACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZAACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrainAACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrainAACAUUCAUUGUUGUCGGUGGGUU
miR-183249124981A,m8hsa-miR-183UAUGGCACUGGUAGAAUUCACUG
miR-186245824641Ahsa-miR-186CAAAGAAUUCUCCUUUUGGGCUU
miR-1944374441A,m8hsa-miR-194UGUAACAGCAACUCCAUGUGGA
miR-1996756821A,m8hsa-miR-199aCCCAGUGUUCAGACUACCUGUUC
hsa-miR-199bCCCAGUGUUUAGACUAUCUGUUC
miR-200bc/42975897595m8hsa-miR-200bUAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200cUAAUACUGCCGGGUAAUGAUGG
hsa-miR-429UAAUACUGUCUGGUAAAACCGU
miR-203.176767682m8hsa-miR-203UGAAAUGUUUAGGACCACUAG
miR-21480168022m8hsa-miR-214brainACAGCAGGCACAGACAGGCAG
miR-221/222257725841A,m8hsa-miR-221brainAGCUACAUUGUCUGCUGGGUUUC
hsa-miR-222brainAGCUACAUCUGGCUACUGGGUCUC
miR-23968896941Ahsa-miR-23abrainAUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrainAUCACAUUGCCAGGGAUUACC
miR-26589358991Ahsa-miR-26abrainUUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZUUCAAGUAAUUCAGGAUAGGUU
miR-320246824741Ahsa-miR-320AAAAGCUGGGUUGAGAGGGCGAA
hsa-miR-320AAAAGCUGGGUUGAGAGGGCGAA
miR-324-5p731873241Ahsa-miR-324-5pCGCAUCCCCUAGGGCAUUGGUGU
miR-346949394991Ahsa-miR-346brainUGUCUGCCCGCAUGCCUGCCUCU
miR-369-3p1501561Ahsa-miR-369-3pAAUAAUACAUGGUUGAUCUUU
hsa-miR-369-3pAAUAAUACAUGGUUGAUCUUU
miR-370240246m8hsa-miR-370brainGCCUGCUGGGGUGGAACCUGG
miR-3741501571A,m8hsa-miR-374UUAUAAUACAACCUGAUAAGUG
hsa-miR-374UUAUAAUACAACCUGAUAAGUG
miR-375628862941Ahsa-miR-375UUUGUUCGUUCGGCUCGCGUGA
miR-377971197181A,m8hsa-miR-377AUCACACAAAGGCAACUUUUGU
miR-381899890051A,m8hsa-miR-381UAUACAAGGGCAAGCUCUCUGU
hsa-miR-381UAUACAAGGGCAAGCUCUCUGU
miR-3843913971Ahsa-miR-384AUUCCUAGAAAUUGUUCAUA
miR-410148814941Ahsa-miR-410AAUAUAACACAGAUGGCCUGU
hsa-miR-410AAUAUAACACAGAUGGCCUGU
miR-485-5p2932991Ahsa-miR-485-5pAGAGGCUGGCCGUGAUGAAUUC
miR-5031091151Ahsa-miR-503UAGCAGCGGGAACAGUUCUGCAG
miR-53982048210m8hsa-miR-539GGAGAAAUUAUCCUUGGUGUGU
miR-9765476601Ahsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA