Reactome | UniProt:Q13705 ACVR2B

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UniProt:Q13705 ACVR2B Show undefined attributes

chain	signal peptide:1-18 chain:19-512
checksum	B377FEF92EF74937
comment	FUNCTION Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, the type-2 receptors act as a primary activin receptors (binds activin-A/INHBA, activin-B/INHBB as well as inhibin-A/INHA-INHBA). The type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor.CATALYTIC ACTIVITY L-threonyl-[receptor-protein] + ATP = O-phospho-L-threonyl-[receptor-protein] + ADP + H(+)CATALYTIC ACTIVITY L-seryl-[receptor-protein] + ATP = O-phospho-L-seryl-[receptor-protein] + ADP + H(+)COFACTOR Forms an activin receptor complex with activin type II receptors such as ACVR1B. Interacts with VPS39. Interacts with DYNLT1. Interacts with BMP3 (PubMed:31665064). Interacts with BMP2 (PubMed:17295905). Interacts with BMP6 (PubMed:18070108).INTERACTION Phosphorylated. Constitutive phosphorylation is in part catalyzed by its own kinase activity.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Produced from the insertion in the transcript of 82 base pairs, leading to frameshift and protein truncation. May be not functional.SIMILARITY Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
crossReference	[DatabaseIdentifier:12817673] ZINC - World Drugs:AVR2B_HUMAN [DatabaseIdentifier:12814208] ZINC target:Q13705 [DatabaseIdentifier:12810908] ZINC - Substances:AVR2B_HUMAN [DatabaseIdentifier:12808074] ZINC - Predictions - Purchasable:AVR2B_HUMAN [DatabaseIdentifier:12806229] ZINC - Investigational:AVR2B_HUMAN [DatabaseIdentifier:12805177] ZINC - FDA approved:AVR2B_HUMAN [DatabaseIdentifier:12803942] ZINC - Biogenic:AVR2B_HUMAN [DatabaseIdentifier:12437567] RefSeq:NP_001097.2 [DatabaseIdentifier:12279301] Pharos - Targets:Q13705 [DatabaseIdentifier:12257567] PRO:Q13705 [DatabaseIdentifier:12139079] PDB:7OLY [DatabaseIdentifier:12139072] PDB:5NGV [DatabaseIdentifier:12139074] PDB:7MRZ [DatabaseIdentifier:12139075] PDB:2H62 [DatabaseIdentifier:12139077] PDB:5NHR [DatabaseIdentifier:12139076] PDB:4FAO [DatabaseIdentifier:12139078] PDB:2QLU [DatabaseIdentifier:12139073] PDB:9D20 [DatabaseIdentifier:12134764] Orphanet:ACVR2B [DatabaseIdentifier:12118957] OpenTargets:ENSG00000114739 [DatabaseIdentifier:11834514] HPA:ENSG00000114739-ACVR2B [DatabaseIdentifier:11828849] HMDB Protein:HMDBP01150 [DatabaseIdentifier:11797151] GlyGen:Q13705 [DatabaseIdentifier:11781384] GeneCards:ACVR2B [DatabaseIdentifier:11778560] Guide to Pharmacology - Targets:1792 [DatabaseIdentifier:11738734] ENSEMBL:ENST00000352511 [DatabaseIdentifier:11616035] ENSEMBL:ENSP00000340361 [DatabaseIdentifier:11504134] ENSEMBL:ENSG00000114739
databaseName	UniProt
dbId	50577
description	recommendedName: Activin receptor type-2B ecNumber: 2.7.11.30 alternativeName: Activin receptor type IIB shortName: ACTR-IIB
displayName	UniProt:Q13705 ACVR2B
geneName	ACVR2B
identifier	Q13705
isSequenceChanged	false
keyword	3D-structure Alternative splicing ATP-binding Cell membrane Disease variant Disulfide bond Glycoprotein Heterotaxy Kinase Magnesium Manganese Membrane Metal-binding Nucleotide-binding Phosphoprotein Proteomics identification Receptor Reference proteome Serine/threonine-protein kinase Signal Transferase Transmembrane Transmembrane helix
modified	[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
name	ACVR2B
otherIdentifier	11727681_a_at 11727682_at 1559548_PM_at 1559548_at 16939231 16939247 220028_PM_at 220028_at 236126_PM_at 236126_at 2617747 2617749 2617751 2617753 2617754 2617763 2617764 2617765 2617766 2617767 2617768 2617769 2617770 2617772 2617774 2617775 2617777 2617778 2617780 2617782 2617784 2617785 2617787 2617789 2617790 2617792 2617794 2617795 2617797 2617798 2617799 2617800 2617801 2617802 2617803 2617804 2617805 2617806 2617807 39314_at 46395_at 8078805 83180_at 93 A_23_P109950 A_24_P231132 A_32_P134209 GE498204 GE60029 GE62354 GE857162 GO:0000122 GO:0000166 GO:0001501 GO:0001702 GO:0001822 GO:0001946 GO:0001974 GO:0003824 GO:0004672 GO:0004674 GO:0004675 GO:0004712 GO:0005515 GO:0005524 GO:0005737 GO:0005886 GO:0006355 GO:0006468 GO:0006879 GO:0007165 GO:0007178 GO:0007368 GO:0007389 GO:0007498 GO:0007507 GO:0009749 GO:0009791 GO:0009952 GO:0009966 GO:0016020 GO:0016301 GO:0016362 GO:0016740 GO:0017002 GO:0019209 GO:0019838 GO:0030073 GO:0030154 GO:0030279 GO:0030324 GO:0030501 GO:0030509 GO:0031016 GO:0032502 GO:0032924 GO:0032927 GO:0032991 GO:0035265 GO:0042475 GO:0043235 GO:0045669 GO:0046872 GO:0048179 GO:0048185 GO:0048617 GO:0048705 GO:0048856 GO:0048870 GO:0060021 GO:0060836 GO:0060840 GO:0060841 GO:0061298 GO:0061450 GO:0071363 GO:0098772 GO:0120163 GO:0140096 GO:1904178 HMNXSV003016816 HMNXSV003053705 Hs.42302.0.A1_3p_at Hs2.174273.1.S1_3p_at ILMN_1668983 ILMN_1824337 PH_hs_0002117 TC03000192.hg X77533_at g10862697_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-201656] ACVR2B [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12759474] UCSC:Q13705 ACVR2B [ReferenceDNASequence:12104905] OMIM:602730 ACVR2B [ReferenceDNASequence:12083646] NCBI Gene:93 ACVR2B [ReferenceDNASequence:11999553] Monarch:93 ACVR2B [ReferenceDNASequence:11907947] KEGG:hsa:93 ACVR2B [ReferenceDNASequence:11812985] HGNC:174 ACVR2B [ReferenceDNASequence:11439830] dbSNP Gene:93 ACVR2B [ReferenceDNASequence:11404461] CTD Gene:93 ACVR2B [ReferenceDNASequence:11402358] COSMIC - genes:ACVR2B ACVR2B [ReferenceDNASequence:11369764] BioGPS Gene:93 ACVR2B [ReferenceDNASequence:ensembl:ENSG00000114739] ENSEMBL:ENSG00000114739 ACVR2B
referenceTranscript	[ReferenceRNASequence:12619083] RefSeq:NM_001106.4 ACVR2B
schemaClass	ReferenceGeneProduct
secondaryIdentifier	AVR2B_HUMAN Q4VAV0
sequenceLength	512
species	[Species:48887] Homo sapiens
stId	uniprot:Q13705
url	http://purl.uniprot.org/uniprot/Q13705

Referrals

(interactor)	[UndirectedInteraction:11282809] UniProt:P43115 <-> UniProt:Q13705 (IntAct) [UndirectedInteraction:11264475] UniProt:P80370 <-> UniProt:Q13705 (IntAct) [UndirectedInteraction:11196245] UniProt:P27037 <-> UniProt:Q13705 (IntAct) [UndirectedInteraction:11180639] UniProt:P36896 <-> UniProt:Q13705 (IntAct) [UndirectedInteraction:11138705] UniProt:P37173 <-> UniProt:Q13705 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-201656] ACVR2B [plasma membrane]

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