Details for: ACVR2A

Gene ID: 92

Symbol: ACVR2A

Ensembl ID: ENSG00000121989

Description: activin A receptor type 2A

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.18
    Marker Score: 2405
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8
    Marker Score: 110451
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.79
    Marker Score: 15396
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.79
    Marker Score: 60400
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.77
    Marker Score: 13562
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.74
    Marker Score: 16538
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.72
    Marker Score: 34161
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.7
    Marker Score: 15948
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.67
    Marker Score: 24979
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.66
    Marker Score: 6756
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.64
    Marker Score: 8787
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.61
    Marker Score: 61155
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.56
    Marker Score: 6036
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.49
    Marker Score: 679
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.48
    Marker Score: 15331
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.43
    Marker Score: 52659
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.42
    Marker Score: 2738
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.39
    Marker Score: 2140
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.36
    Marker Score: 5688.5
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.33
    Marker Score: 1509
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.32
    Marker Score: 3779
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.3
    Marker Score: 1126
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.24
    Marker Score: 6531
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.16
    Marker Score: 445
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.15
    Marker Score: 674
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.15
    Marker Score: 1022
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.15
    Marker Score: 884
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.15
    Marker Score: 5300
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.13
    Marker Score: 2300
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.12
    Marker Score: 777
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.1
    Marker Score: 8271
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.07
    Marker Score: 4449
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.06
    Marker Score: 634
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.04
    Marker Score: 454
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.01
    Marker Score: 1060
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1
    Marker Score: 2355
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71763
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47988
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.97
    Marker Score: 2123
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 497
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.96
    Marker Score: 1101
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 450
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.93
    Marker Score: 14626.5
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.93
    Marker Score: 524
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.92
    Marker Score: 1497
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.92
    Marker Score: 535
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.9
    Marker Score: 1113
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.88
    Marker Score: 952
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 317
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.88
    Marker Score: 662
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.88
    Marker Score: 489
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5011
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.86
    Marker Score: 271
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.85
    Marker Score: 781
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.85
    Marker Score: 645
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.85
    Marker Score: 2026
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.84
    Marker Score: 1186
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.84
    Marker Score: 503
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.83
    Marker Score: 794
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.83
    Marker Score: 2941
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.81
    Marker Score: 5199.5
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.81
    Marker Score: 18014.5
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.79
    Marker Score: 850
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 605
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 314
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.78
    Marker Score: 437
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.78
    Marker Score: 202
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.77
    Marker Score: 249
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.76
    Marker Score: 402
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.76
    Marker Score: 1752
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.75
    Marker Score: 282
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.75
    Marker Score: 1881
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 387
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.75
    Marker Score: 281
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.74
    Marker Score: 3210
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.74
    Marker Score: 954
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.73
    Marker Score: 229
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.72
    Marker Score: 15466
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.72
    Marker Score: 211
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3002
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.71
    Marker Score: 485
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.71
    Marker Score: 470
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.71
    Marker Score: 369
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 638
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.69
    Marker Score: 1167
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.69
    Marker Score: 834
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.68
    Marker Score: 253
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.68
    Marker Score: 963
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.68
    Marker Score: 196
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.68
    Marker Score: 10908
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.67
    Marker Score: 4052
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.67
    Marker Score: 985
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.66
    Marker Score: 134
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.65
    Marker Score: 804
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.64
    Marker Score: 1124

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Other Information

**Key characteristics:** * It is a large protein (145 kDa) with a predicted extracellular domain and a cytoplasmic domain that is divided into three regions: N-terminal, extracellular, and intracellular domains. * It is a member of the activin receptor family of cell surface receptors. * It is expressed in high levels in the developing nervous system, particularly in the cerebral cortex, cerebellum, and brainstem. * It is also expressed in the retina, heart, kidney, and other tissues. **Pathways and functions:** * ACVR2A is a key regulator of neuronal development. It is required for the survival and growth of neurons in the developing brain. * It is also a key regulator of neuronal differentiation. * It is a regulator of synaptic plasticity, learning, and memory. * It is involved in the regulation of neuronal survival, differentiation, and growth. * It is also involved in the regulation of neuronal excitability. **Clinical significance:** * Mutations in the ACVR2A gene have been linked to a number of human diseases, including autism, schizophrenia, and epilepsy. * These mutations can disrupt the normal function of the ACVR2A protein, leading to neuronal abnormalities and a variety of neurological symptoms. * Therefore, ACVR2A is a promising target for the treatment of neurodegenerative diseases.

Genular Protein ID: 492134488

Symbol: AVR2A_HUMAN

Name: Activin receptor type IIA

UniProtKB Accession Codes:

P27037 B2RAB8 B4DWQ2 D3DP85 Q53TH4 Q6NWV2 Q92474

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 2 EMBL 12 EPD 1 Ensembl 3 EvolutionaryTrace 1 GO 42 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 5 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 4 RefSeq 3 Rhea 8 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1311955

Title: Cloning of the human activin receptor cDNA reveals high evolutionary conservation.

PubMed ID: 1311955

DOI: 10.1016/0167-4781(92)90472-c

PubMed ID: 1314589

Title: Molecular cloning and binding properties of the human type II activin receptor.

PubMed ID: 1314589

DOI: 10.1016/0006-291x(92)91194-u

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12667445

Title: The BMP7/ActRII extracellular domain complex provides new insights into the cooperative nature of receptor assembly.

PubMed ID: 12667445

DOI: 10.1016/s1097-2765(03)00094-7

PubMed ID: 17911401

Title: Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor.

PubMed ID: 17911401

DOI: 10.1677/joe-07-0281

PubMed ID: 21791611

Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.

PubMed ID: 21791611

DOI: 10.1128/mcb.05448-11

PubMed ID: 25368322

Title: Small molecules dorsomorphin and LDN-193189 inhibit myostatin/GDF8 signaling and promote functional myoblast differentiation.

PubMed ID: 25368322

DOI: 10.1074/jbc.m114.604397

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

Sequence Information:

  • Length: 513
  • Mass: 57848
  • Checksum: A89822E880979618
  • Sequence:
    • MGAAAKLAFA VFLISCSSGA ILGRSETQEC LFFNANWEKD RTNQTGVEPC YGDKDKRRHC 
FATWKNISGS IEIVKQGCWL DDINCYDRTD CVEKKDSPEV YFCCCEGNMC NEKFSYFPEM 
EVTQPTSNPV TPKPPYYNIL LYSLVPLMLI AGIVICAFWV YRHHKMAYPP VLVPTQDPGP 
PPPSPLLGLK PLQLLEVKAR GRFGCVWKAQ LLNEYVAVKI FPIQDKQSWQ NEYEVYSLPG 
MKHENILQFI GAEKRGTSVD VDLWLITAFH EKGSLSDFLK ANVVSWNELC HIAETMARGL 
AYLHEDIPGL KDGHKPAISH RDIKSKNVLL KNNLTACIAD FGLALKFEAG KSAGDTHGQV 
GTRRYMAPEV LEGAINFQRD AFLRIDMYAM GLVLWELASR CTAADGPVDE YMLPFEEEIG 
QHPSLEDMQE VVVHKKKRPV LRDYWQKHAG MAMLCETIEE CWDHDAEARL SAGCVGERIT 
QMQRLTNIIT TEDIVTVVTM VTNVDFPPKE SSL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.