Gene Page: ACVR2B
Summary ?
GeneID | 93 |
Symbol | ACVR2B |
Synonyms | ACTRIIB|ActR-IIB|HTX4 |
Description | activin A receptor type 2B |
Reference | MIM:602730|HGNC:HGNC:174|Ensembl:ENSG00000114739|HPRD:04106|Vega:OTTHUMG00000131291 |
Gene type | protein-coding |
Map location | 3p22 |
Pascal p-value | 2.88E-4 |
Sherlock p-value | 0.461 |
eGene | Cerebellar Hemisphere Myers' cis & trans |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CV:PGCnp | Genome-wide Association Study | GWAS | |
GSMA_I | Genome scan meta-analysis | Psr: 0.006 |
Section I. Genetics and epigenetics annotation
eQTL annotation
SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
---|---|---|---|---|---|---|---|---|
rs16829545 | chr2 | 151977407 | ACVR2B | 93 | 0.04 | trans | ||
rs10473751 | 0 | ACVR2B | 93 | 0.17 | trans | |||
rs16955618 | chr15 | 29937543 | ACVR2B | 93 | 0.18 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
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 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 | IEA | - | |
GO:0016740 | transferase activity | IEA | - | |
GO:0019838 | growth factor binding | IPI | 14517293 | |
GO:0016362 | activin receptor activity, type II | TAS | 8622651 | |
GO:0030145 | manganese ion binding | IEA | - | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0006468 | protein amino acid phosphorylation | IEA | - | |
GO:0009952 | anterior/posterior pattern formation | IMP | 9916847 | |
GO:0007165 | signal transduction | IDA | 8622651 | |
GO:0030501 | positive regulation of bone mineralization | IMP | 18436533 | |
GO:0030509 | BMP signaling pathway | EXP | 15621726 | |
GO:0030509 | BMP signaling pathway | IDA | 18436533 | |
GO:0032927 | positive regulation of activin receptor signaling pathway | IDA | 8622651 | |
GO:0045669 | positive regulation of osteoblast differentiation | IMP | 18436533 | |
GO:0045449 | regulation of transcription | IDA | 8622651 | |
Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0005737 | cytoplasm | IDA | 14738881 | |
GO:0009986 | cell surface | IDA | 12493773 | |
GO:0005886 | plasma membrane | EXP | 17356069 | |
GO:0005887 | integral to plasma membrane | TAS | 8161782 |
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 | 8612709|8622651 |
ACVR1B | ACTRIB | ACVRLK4 | ALK4 | SKR2 | activin A receptor, type IB | - | HPRD,BioGRID | 8612709 |
BMP6 | VGR | VGR1 | bone morphogenetic protein 6 | Affinity Capture-Western | BioGRID | 10504300 |
BMP7 | OP-1 | bone morphogenetic protein 7 | - | HPRD,BioGRID | 9748228 |
ENG | CD105 | END | FLJ41744 | HHT1 | ORW | ORW1 | endoglin | Affinity Capture-Western | BioGRID | 9872992 |
GDF11 | BMP-11 | BMP11 | growth differentiation factor 11 | - | HPRD,BioGRID | 10391213 |
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,BioGRID | 9202237 |
INHBB | MGC157939 | inhibin, beta B | - | HPRD,BioGRID | 9202237 |
INHBC | IHBC | inhibin, beta C | - | HPRD | 12651901 |
MSTN | GDF8 | myostatin | - | HPRD,BioGRID | 11459935 |
SNX1 | HsT17379 | MGC8664 | SNX1A | Vps5 | sorting nexin 1 | - | HPRD,BioGRID | 11279102 |
SNX2 | MGC5204 | TRG-9 | sorting nexin 2 | Affinity Capture-Western | BioGRID | 11279102 |
SNX6 | MGC3157 | MSTP010 | TFAF2 | sorting nexin 6 | - | HPRD,BioGRID | 11279102 |
SYNJ2BP | ARIP2 | FLJ11271 | FLJ41973 | OMP25 | synaptojanin 2 binding protein | - | HPRD,BioGRID | 11882656 |15451561 |
TGFBRAP1 | TRAP-1 | TRAP1 | transforming growth factor, beta receptor associated protein 1 | - | HPRD | 11278302 |
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 |
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA UP | 368 | 234 | All SZGR 2.0 genes in this pathway |
HORIUCHI WTAP TARGETS UP | 306 | 188 | All SZGR 2.0 genes in this pathway |
ODONNELL TFRC TARGETS DN | 139 | 76 | All SZGR 2.0 genes in this pathway |
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN | 800 | 473 | All SZGR 2.0 genes in this pathway |
RASHI RESPONSE TO IONIZING RADIATION 3 | 48 | 31 | All SZGR 2.0 genes in this pathway |
PUJANA BRCA1 PCC NETWORK | 1652 | 1023 | All SZGR 2.0 genes in this pathway |
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY UP | 236 | 139 | All SZGR 2.0 genes in this pathway |
GEORGES TARGETS OF MIR192 AND MIR215 | 893 | 528 | All SZGR 2.0 genes in this pathway |
CHANG IMMORTALIZED BY HPV31 DN | 65 | 45 | All SZGR 2.0 genes in this pathway |
SU PLACENTA | 30 | 18 | All SZGR 2.0 genes in this pathway |
MARTINEZ RB1 TARGETS DN | 543 | 317 | All SZGR 2.0 genes in this pathway |
MARTINEZ TP53 TARGETS DN | 593 | 372 | All SZGR 2.0 genes in this pathway |
MARTINEZ RB1 AND TP53 TARGETS DN | 591 | 366 | All SZGR 2.0 genes in this pathway |
YOSHIMURA MAPK8 TARGETS UP | 1305 | 895 | All SZGR 2.0 genes in this pathway |
LI INDUCED T TO NATURAL KILLER DN | 116 | 83 | All SZGR 2.0 genes in this pathway |
BRUINS UVC RESPONSE VIA TP53 GROUP A | 898 | 516 | All SZGR 2.0 genes in this pathway |
RAFFEL VEGFA TARGETS UP | 9 | 8 | All SZGR 2.0 genes in this pathway |
FORTSCHEGGER PHF8 TARGETS UP | 279 | 155 | All SZGR 2.0 genes in this pathway |
Section VI. microRNA annotation
miRNA family | Target position | miRNA ID | miRNA seq | ||
---|---|---|---|---|---|
UTR start | UTR end | Match method | |||
let-7/98 | 1456 | 1462 | 1A | hsa-let-7abrain | UGAGGUAGUAGGUUGUAUAGUU |
hsa-let-7bbrain | UGAGGUAGUAGGUUGUGUGGUU | ||||
hsa-let-7cbrain | UGAGGUAGUAGGUUGUAUGGUU | ||||
hsa-let-7dbrain | AGAGGUAGUAGGUUGCAUAGU | ||||
hsa-let-7ebrain | UGAGGUAGGAGGUUGUAUAGU | ||||
hsa-let-7fbrain | UGAGGUAGUAGAUUGUAUAGUU | ||||
hsa-miR-98brain | UGAGGUAGUAAGUUGUAUUGUU | ||||
hsa-let-7gSZ | UGAGGUAGUAGUUUGUACAGU | ||||
hsa-let-7ibrain | UGAGGUAGUAGUUUGUGCUGU | ||||
hsa-let-7abrain | UGAGGUAGUAGGUUGUAUAGUU | ||||
hsa-let-7bbrain | UGAGGUAGUAGGUUGUGUGGUU | ||||
hsa-let-7cbrain | UGAGGUAGUAGGUUGUAUGGUU | ||||
hsa-let-7dbrain | AGAGGUAGUAGGUUGCAUAGU | ||||
hsa-let-7ebrain | UGAGGUAGGAGGUUGUAUAGU | ||||
hsa-let-7fbrain | UGAGGUAGUAGAUUGUAUAGUU | ||||
hsa-miR-98brain | UGAGGUAGUAAGUUGUAUUGUU | ||||
hsa-let-7gSZ | UGAGGUAGUAGUUUGUACAGU | ||||
hsa-let-7ibrain | UGAGGUAGUAGUUUGUGCUGU | ||||
miR-101 | 214 | 220 | 1A | hsa-miR-101 | UACAGUACUGUGAUAACUGAAG |
miR-103/107 | 402 | 409 | 1A,m8 | hsa-miR-103brain | AGCAGCAUUGUACAGGGCUAUGA |
hsa-miR-107brain | AGCAGCAUUGUACAGGGCUAUCA | ||||
miR-124/506 | 7202 | 7208 | m8 | hsa-miR-506 | UAAGGCACCCUUCUGAGUAGA |
hsa-miR-124brain | UAAGGCACGCGGUGAAUGCC | ||||
miR-132/212 | 435 | 442 | 1A,m8 | hsa-miR-212SZ | UAACAGUCUCCAGUCACGGCC |
hsa-miR-132brain | UAACAGUCUACAGCCAUGGUCG | ||||
miR-138 | 199 | 205 | 1A | hsa-miR-138brain | AGCUGGUGUUGUGAAUC |
miR-144 | 214 | 220 | 1A | hsa-miR-144 | UACAGUAUAGAUGAUGUACUAG |
miR-148/152 | 9664 | 9670 | m8 | hsa-miR-148a | UCAGUGCACUACAGAACUUUGU |
hsa-miR-152brain | UCAGUGCAUGACAGAACUUGGG | ||||
hsa-miR-148b | UCAGUGCAUCACAGAACUUUGU | ||||
miR-15/16/195/424/497 | 109 | 115 | 1A | hsa-miR-15abrain | UAGCAGCACAUAAUGGUUUGUG |
hsa-miR-16brain | UAGCAGCACGUAAAUAUUGGCG | ||||
hsa-miR-15bbrain | UAGCAGCACAUCAUGGUUUACA | ||||
hsa-miR-195SZ | UAGCAGCACAGAAAUAUUGGC | ||||
hsa-miR-424 | CAGCAGCAAUUCAUGUUUUGAA | ||||
hsa-miR-497 | CAGCAGCACACUGUGGUUUGU | ||||
miR-181 | 9691 | 9698 | 1A,m8 | hsa-miR-181abrain | AACAUUCAACGCUGUCGGUGAGU |
hsa-miR-181bSZ | AACAUUCAUUGCUGUCGGUGGG | ||||
hsa-miR-181cbrain | AACAUUCAACCUGUCGGUGAGU | ||||
hsa-miR-181dbrain | AACAUUCAUUGUUGUCGGUGGGUU | ||||
hsa-miR-181abrain | AACAUUCAACGCUGUCGGUGAGU | ||||
hsa-miR-181bSZ | AACAUUCAUUGCUGUCGGUGGG | ||||
hsa-miR-181cbrain | AACAUUCAACCUGUCGGUGAGU | ||||
hsa-miR-181dbrain | AACAUUCAUUGUUGUCGGUGGGUU | ||||
miR-183 | 2491 | 2498 | 1A,m8 | hsa-miR-183 | UAUGGCACUGGUAGAAUUCACUG |
miR-186 | 2458 | 2464 | 1A | hsa-miR-186 | CAAAGAAUUCUCCUUUUGGGCUU |
miR-194 | 437 | 444 | 1A,m8 | hsa-miR-194 | UGUAACAGCAACUCCAUGUGGA |
miR-199 | 675 | 682 | 1A,m8 | hsa-miR-199a | CCCAGUGUUCAGACUACCUGUUC |
hsa-miR-199b | CCCAGUGUUUAGACUAUCUGUUC | ||||
miR-200bc/429 | 7589 | 7595 | m8 | hsa-miR-200b | UAAUACUGCCUGGUAAUGAUGAC |
hsa-miR-200c | UAAUACUGCCGGGUAAUGAUGG | ||||
hsa-miR-429 | UAAUACUGUCUGGUAAAACCGU | ||||
miR-203.1 | 7676 | 7682 | m8 | hsa-miR-203 | UGAAAUGUUUAGGACCACUAG |
miR-214 | 8016 | 8022 | m8 | hsa-miR-214brain | ACAGCAGGCACAGACAGGCAG |
miR-221/222 | 2577 | 2584 | 1A,m8 | hsa-miR-221brain | AGCUACAUUGUCUGCUGGGUUUC |
hsa-miR-222brain | AGCUACAUCUGGCUACUGGGUCUC | ||||
miR-23 | 9688 | 9694 | 1A | hsa-miR-23abrain | AUCACAUUGCCAGGGAUUUCC |
hsa-miR-23bbrain | AUCACAUUGCCAGGGAUUACC | ||||
miR-26 | 5893 | 5899 | 1A | hsa-miR-26abrain | UUCAAGUAAUCCAGGAUAGGC |
hsa-miR-26bSZ | UUCAAGUAAUUCAGGAUAGGUU | ||||
miR-320 | 2468 | 2474 | 1A | hsa-miR-320 | AAAAGCUGGGUUGAGAGGGCGAA |
hsa-miR-320 | AAAAGCUGGGUUGAGAGGGCGAA | ||||
miR-324-5p | 7318 | 7324 | 1A | hsa-miR-324-5p | CGCAUCCCCUAGGGCAUUGGUGU |
miR-346 | 9493 | 9499 | 1A | hsa-miR-346brain | UGUCUGCCCGCAUGCCUGCCUCU |
miR-369-3p | 150 | 156 | 1A | hsa-miR-369-3p | AAUAAUACAUGGUUGAUCUUU |
hsa-miR-369-3p | AAUAAUACAUGGUUGAUCUUU | ||||
miR-370 | 240 | 246 | m8 | hsa-miR-370brain | GCCUGCUGGGGUGGAACCUGG |
miR-374 | 150 | 157 | 1A,m8 | hsa-miR-374 | UUAUAAUACAACCUGAUAAGUG |
hsa-miR-374 | UUAUAAUACAACCUGAUAAGUG | ||||
miR-375 | 6288 | 6294 | 1A | hsa-miR-375 | UUUGUUCGUUCGGCUCGCGUGA |
miR-377 | 9711 | 9718 | 1A,m8 | hsa-miR-377 | AUCACACAAAGGCAACUUUUGU |
miR-381 | 8998 | 9005 | 1A,m8 | hsa-miR-381 | UAUACAAGGGCAAGCUCUCUGU |
hsa-miR-381 | UAUACAAGGGCAAGCUCUCUGU | ||||
miR-384 | 391 | 397 | 1A | hsa-miR-384 | AUUCCUAGAAAUUGUUCAUA |
miR-410 | 1488 | 1494 | 1A | hsa-miR-410 | AAUAUAACACAGAUGGCCUGU |
hsa-miR-410 | AAUAUAACACAGAUGGCCUGU | ||||
miR-485-5p | 293 | 299 | 1A | hsa-miR-485-5p | AGAGGCUGGCCGUGAUGAAUUC |
miR-503 | 109 | 115 | 1A | hsa-miR-503 | UAGCAGCGGGAACAGUUCUGCAG |
miR-539 | 8204 | 8210 | m8 | hsa-miR-539 | GGAGAAAUUAUCCUUGGUGUGU |
miR-9 | 7654 | 7660 | 1A | hsa-miR-9SZ | UCUUUGGUUAUCUAGCUGUAUGA |
- 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.