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ACVR1C Gene

protein-coding   GIFtS: 65
GCID: GC02M158352

Activin A Receptor, Type IC

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Activin A Receptor, Type IC1 2     ALK-72 3
ALK72 3 5     EC 2.7.11.303 8
Activin Receptor Type IC2 3     ACVRLK72
Activin Receptor-Like Kinase 72 3     Activin Receptor Type-1C2
ACTR-IC2 3     EC 2.7.118

External Ids:    HGNC: 181231   Entrez Gene: 1303992   Ensembl: ENSG000001236127   OMIM: 6089815   UniProtKB: Q8NER53   

Export aliases for ACVR1C gene to outside databases

Previous GC identifers: GC02M158592 GC02M158593 GC02M158214 GC02M158097 GC02M150268


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACVR1C Gene:
ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type
I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and
interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 (PubMed
12063393)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ACVR1C Gene:
ACVR1C (activin A receptor, type IC) is a protein-coding gene. Diseases associated with ACVR1C include myositis ossificans, and fibrodysplasia ossificans progressiva. GO annotations related to this gene include nodal binding and transforming growth factor beta-activated receptor activity. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot: ACV1C_HUMAN, Q8NER5
Function: Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex
consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and
activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2
and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and
apoptosis

summary for ACVR1C Gene:
Activin receptors transduce signals carried by the TGF-beta family of ligands. Such ligands include activin
and bone morphogenetic proteins (BMPs). Members of this family are involved in a range of processes,
including embryogenesis and tissue homeostasis.

Gene Wiki entry for ACVR1C Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACVR1C gene promoter:
         USF1   Pbx1a   Bach2   XBP-1   Cdc5   AREB6   S8   POU2F1   USF-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ACVR1C promoter sequence
   Search Chromatin IP Primers for ACVR1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACVR1C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q24.1   Ensembl cytogenetic band:  2q24.1   HGNC cytogenetic band: 2q24.2

ACVR1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVR1C gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M158352:  view genomic region     (about GC identifiers)

Start:
158,383,279 bp from pter      End:
158,485,517 bp from pter
Size:
102,239 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACV1C_HUMAN, Q8NER5 (See protein sequence)
Recommended Name: Activin receptor type-1C precursor  
Size: 493 amino acids; 54871 Da
Cofactor: Magnesium or manganese
Subunit: Binds the type 2 receptor protein ACVR2A (By similarity)
Secondary accessions: Q4ZFZ8 Q86UL1 Q86UL2 Q8TBG2
Alternative splicing: 4 isoforms:  Q8NER5-1   Q8NER5-2   Q8NER5-3   Q8NER5-4   

Explore the universe of human proteins at neXtProt for ACVR1C: NX_Q8NER5

Explore proteomics data for ACVR1C at MOPED

Selected DME Specific Peptides for ACVR1C (Q8NER5) (see all 12)
 IADLGLA  ASGLAHLH  TLKDLIYD  SGSGSGLP 


See ACVR1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_001104501.1  NP_001104502.1  NP_001104503.1  NP_660302.2  

ENSEMBL proteins: 
 ENSP00000243349   ENSP00000387168   ENSP00000335139   ENSP00000335178  
Reactome Protein details: Q8NER5

ACVR1C Human Recombinant Protein Products:

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Sino Biological Cell Lysate for ACVR1C
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Cloud-Clone Corp. Proteins for ACVR1C

ACVR1C Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of ACVR1C
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Abcam antibodies for ACVR1C
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ThermoFisher Antibodies for ACVR1C
LSBio Antibodies in human, mouse, rat for ACVR1C

ACVR1C Assay Products:

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GenScript Custom Assay Services for ACVR1C
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Cloud-Clone Corp. ELISAs for ACVR1C
Cloud-Clone Corp. CLIAs for ACVR1C


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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IUPHAR Guide to PHARMACOLOGY protein family classification: activin A receptor, type IC
Type I receptor serine/threonine kinases
Type I subfamily

Selected InterPro protein domains (see all 6):
 IPR017441 Protein_kinase_ATP_BS
 IPR011009 Kinase-like_dom
 IPR008271 Ser/Thr_kinase_AS
 IPR003605 TGF_beta_rcpt_GS
 IPR000472 Activin_rcpt

Graphical View of Domain Structure for InterPro Entry Q8NER5

ProtoNet protein and cluster: Q8NER5

1 Blocks protein domain: IPB000472 Domain in TGF-beta receptor/activin receptor

UniProtKB/Swiss-Prot: ACV1C_HUMAN, Q8NER5
Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
Similarity: Contains 1 GS domain
Similarity: Contains 1 protein kinase domain


ACVR1C for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ACV1C_HUMAN, Q8NER5
Function: Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex
consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and
activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2
and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and
apoptosis
Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

     Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

     Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004672protein kinase activity ----
GO:0004675transmembrane receptor protein serine/threonine kinase activity ----
GO:0004713protein tyrosine kinase activity ----
GO:0005024transforming growth factor beta-activated receptor activity IEA--
GO:0005524ATP binding IEA--
     
ACVR1C for ontologies           About GeneDecksing


Phenotypes:
     3 GenomeRNAi human phenotypes for ACVR1C:
 Decreased influenza A/WSN/33 r  Decreased substrate adherent c  Increased cell death in HCC-19 

     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Acvr1c):
 mortality/aging  normal 

ACVR1C for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACVR1C
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACVR1C

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACVR1C
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACVR1C

miRNA
Products:
    
miRTarBase miRNAs that target ACVR1C:
hsa-mir-22-3p (MIRT005779), hsa-mir-376b-3p (MIRT005778), hsa-mir-376c-3p (MIRT005775), hsa-mir-376a-5p (MIRT005777), hsa-mir-412-3p (MIRT005780), hsa-mir-122-5p (MIRT005782), hsa-mir-376a-3p (MIRT005776), hsa-mir-147a (MIRT005781)

Block miRNA regulation of human, mouse, rat ACVR1C using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate ACVR1C (see all 168):
hsa-miR-579 hsa-miR-576-3p hsa-miR-520f hsa-miR-199a-3p hsa-miR-128 hsa-miR-605 hsa-miR-3653 hsa-miR-519a
SwitchGear 3'UTR luciferase reporter plasmidACVR1C 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ACVR1C
Predesigned siRNA for gene silencing in human, mouse, rat ACVR1C

Gene Editing
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DNA2.0 Custom Protein Engineering Service for ACVR1C

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OriGene clones in human, mouse for ACVR1C (see all 25)
OriGene ORF clones in mouse, rat for ACVR1C
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): ACVR1C (NM_145259)
Sino Biological Human cDNA Clone for ACVR1C
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVR1C
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVR1C

Cell Line
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GenScript Custom overexpressing Cell Line Services for ACVR1C
Browse ESI BIO Cell Lines and PureStem Progenitors for ACVR1C 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR1C


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ACV1C_HUMAN, Q8NER5: Membrane; Single-pass type I membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
cytoskeleton1
cytosol1
extracellular1
lysosome1
mitochondrion1
nucleus1
peroxisome1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane TAS--
GO:0016020membrane ----
GO:0048179activin receptor complex IDA15531507

ACVR1C for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ACVR1C About   (see all 7)  
See pathways by source

SuperPathContained pathways About
1Signaling by NODAL
Signaling by NODAL0.39
Regulation of Signaling by NODAL0.00
Signaling by Activin0.39
2L1CAM interactions
Developmental Biology0.63
3Signaling by GPCR
Signal Transduction0.58
4MAPK signaling pathway
MAPK signaling pathway0.50
5Human Embryonic Stem Cell Pluripotency
Human Embryonic Stem Cell Pluripotency0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ACVR1C
    Human Embryonic Stem Cell Pluripotency

1 BioSystems Pathway for ACVR1C
    MAPK signaling pathway

1 Sino Biological Pathway for ACVR1C
    TGF-beta Signaling Pathway

3 Reactome Pathways for ACVR1C
    Signaling by Activin
Signaling by NODAL
Regulation of signaling by NODAL


1 Kegg Pathway  (Kegg details for ACVR1C):
    TGF-beta signaling pathway


ACVR1C for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including ACVR1C: 
          Stem Cell Signaling in human mouse rat

Interactions:

    GeneGlobe Interaction Network for ACVR1C

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

Selected Interacting proteins for ACVR1C (Q8NER53 ENSP000002433494) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
InteractantInteraction Details
GeneCardExternal ID(s)
TDGF1P133853, ENSP000002961454I2D: score=1 STRING: ENSP00000296145
INHBBP095293, ENSP000002952284I2D: score=1 STRING: ENSP00000295228
HSP90AA1P079003I2D: score=4 
ACVR1ENSP000002636404STRING: ENSP00000263640
ACVR2BENSP000003403614STRING: ENSP00000340361
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Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002021response to dietary excess IEA--
GO:0006468protein phosphorylation IC12063393
GO:0009749response to glucose IEA--
GO:0019915lipid storage IEA--
GO:0030154cell differentiation IDA15531507

ACVR1C for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for ACVR1C available from Tocris Bioscience    About this table
CompoundAction CAS #
AlantolactoneAntiproliferative; induces activin/SMAD3 signaling[546-43-0]
DMH-1BMP inhibitor; selectively inhibits ALK2[1206711-16-1]

4 HMDB Compounds for ACVR1C    About this table
CompoundSynonyms CAS #PubMed Ids
ADPadenosindiphosphorsaeure (see all 8)58-64-0--
Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
MagnesiumMagnesium (see all 2)7439-95-4--
Manganesemanganese 7439-96-5--

2 Novoseek inferred chemical compound relationships for ACVR1C gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
threonine 62.6 3 12063393 (1), 12606401 (1), 15196700 (1)
serine 42.2 2 12606401 (1), 15196700 (1)



ACVR1C for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ACVR1C gene (4 alternative transcripts): 
NM_001111031.1  NM_001111032.1  NM_001111033.1  NM_145259.2  

Unigene Cluster for ACVR1C:

Activin A receptor, type IC
Hs.562901  [show with all ESTs]
Unigene Representative Sequence: NM_145259
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000243349(uc010foe.3 uc002tzk.4 uc002tzl.4 uc010fof.3)
ENST00000409680 ENST00000348328 ENST00000335450
miRNA
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Block miRNA regulation of human, mouse, rat ACVR1C using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate ACVR1C (see all 168):
hsa-miR-579 hsa-miR-576-3p hsa-miR-520f hsa-miR-199a-3p hsa-miR-128 hsa-miR-605 hsa-miR-3653 hsa-miR-519a
SwitchGear 3'UTR luciferase reporter plasmidACVR1C 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat ACVR1C
Clone
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OriGene ORF clones in mouse, rat for ACVR1C
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): ACVR1C (NM_145259)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACVR1C
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACVR1C
Primer
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OriGene qPCR primer pairs and template standards for ACVR1C
OriGene qSTAR qPCR primer pairs in human, mouse for ACVR1C
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACVR1C
  QuantiTect SYBR Green Assays in human, mouse, rat ACVR1C
  QuantiFast Probe-based Assays in human, mouse, rat ACVR1C

Additional mRNA sequence: 

AF525679.1 AF525680.1 AF525681.1 AY127050.1 BC022530.1 BC030101.2 

7 DOTS entries:

DT.91745490  DT.100748869  DT.99928652  DT.100748870  DT.95179535  DT.75144520  DT.95303326 

Selected AceView cDNA sequences (see all 32):

BQ082584 BQ711640 CD637599 BC022530 CD637611 CD637601 BP382222 CD637609 
CD637605 CD637603 CD637597 CD637278 CD637592 CD637613 CD637280 CD637607 
BU167095 AY127050 AF525679 AF525680 AF525681 NM_145259 BI601014 BG716697 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ACVR1C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ACVR1C Expression
About this image


ACVR1C expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Brain (Nervous System)    fully expand to see all 8 entries
         Thalamus
 
 Heart (Cardiovascular System)
         Atrioventricular Canal Cells Atrioventricular Canal
 
 Testis (Reproductive System)
         Sertoli cells Seminiferous Tubules
ACVR1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ACVR1C Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.562901

UniProtKB/Swiss-Prot: ACV1C_HUMAN, Q8NER5
Tissue specificity: Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla
oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the
placenta throughout pregnancy

    Pathway & Disease-focused RT2 Profiler PCR Array including ACVR1C: 
          Stem Cell Signaling in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for ACVR1C
OriGene qSTAR qPCR primer pairs in human, mouse for ACVR1C
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACVR1C
QuantiTect SYBR Green Assays in human, mouse, rat ACVR1C
QuantiFast Probe-based Assays in human, mouse, rat ACVR1C
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR1C

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ACVR1C gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Acvr1c1 , 5 activin A receptor, type IC1, 5 86.55(n)1
94.27(a)1
  2 (33.05 cM)5
2692751  NM_001111030.11  NP_001104500.11 
 582674535 
chicken
(Gallus gallus)
Aves ACVR1C1 activin A receptor, type IC 73.93(n)
84.19(a)
  424325  XM_422170.4  XP_422170.3 
lizard
(Anolis carolinensis)
Reptilia ACVR1C6
activin A receptor, type IC
89(a)
1 ↔ 1
AAWZ02038267(1851-10724)
tropical clawed frog
(Xenopus tropicalis)
Amphibia acvr1c1 activin A receptor, type IC 74.07(n)
79.49(a)
  100487548  XM_002933270.2  XP_002933316.2 
zebrafish
(Danio rerio)
Actinopterygii CABZ01079442.16
Uncharacterized protein
67(a)
1 ↔ 1
9(5289140-5330274) ENSDARG00000086172
fruit fly
(Drosophila melanogaster)
Insecta babo6
baboon
42(a)
1 → many
2R(4839846-4850301)


ENSEMBL Gene Tree for ACVR1C (if available)
TreeFam Gene Tree for ACVR1C (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ACVR1C gene
TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  ACVR12  
BMPR22  ACVRL12  BMPR1B2  
9 SIMAP similar genes for ACVR1C using alignment to 2 protein entries:     ACV1C_HUMAN (see all proteins):
ACVR1B    ACVRL1    TGFBR1    ACVR1    BMPR1A    BMPR1B
ACVR2B    ACVR2A    TGFBR2

ACVR1C for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for ACVR1C
PGOHUM00000261257


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ACVR1C (see all 1637)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0414094
A lung squamous cell carcinoma sample4--see VAR_0414092 W R mis40--------
rs1145836031,2
C,Funtested1158412624(+) GAGGCG/AGTCAC 6 /T syn1 int12Minor allele frequency- A:0.00WA NA 4766
rs602697811,2
C--157813101(+) TTTTT-/TTGAGAC 4 -- int11Minor allele frequency- TT:0.00NA 2
rs1927930041,2
--158382929(+) ACCATC/GTGCTT 4 -- int10--------
rs1846548971,2
--158382959(+) GAGCTA/GTTTTA 4 -- int10--------
rs1118667531,2
C--158383016(+) AGTGC-/AAAAAA 4 -- int11Minor allele frequency- A:0.50CSA 2
rs1447477401,2
--158383028(+) AACCAA/GTTGCT 4 -- int10--------
rs75771101,2
C,F,H--158383075(+) TGCCAT/GGTAGA 4 -- int124Minor allele frequency- G:0.13NS EA NA WA CSA 2351
rs1485401001,2
--158383083(+) AGAGAA/TATGGC 4 -- int10--------
rs1894431191,2
--158383154(+) AGGAAC/TGAAGG 4 -- int10--------

HapMap Linkage Disequilibrium report for ACVR1C (158383279 - 158485517 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for ACVR1C:    About this table    
Variant IDTypeSubtypePubMed ID
esv2643096CNV Deletion19546169
esv2721014CNV Deletion23290073
esv2329918CNV Deletion18987734
esv4635CNV Deletion18987735
esv2721013CNV Deletion23290073
esv1723038CNV Deletion17803354
esv2477101CNV Deletion19546169
esv267493CNV Insertion20981092

Human Gene Mutation Database (HGMD): ACVR1C
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ACVR1C
DNA2.0 Custom Variant and Variant Library Synthesis for ACVR1C

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608981    OMIM disorders: --

9 diseases for ACVR1C:    
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myositis ossificans    fibrodysplasia ossificans progressiva    myositis    obesity
type 1 diabetes    ovarian cancer    pancreatitis    cerebritis
breast cancer

1 disease from the University of Copenhagen DISEASES database for ACVR1C:
Myositis ossificans

ACVR1C for disorders           About GeneDecksing

Genetic Association Database (GAD): ACVR1C
Human Genome Epidemiology (HuGE) Navigator: ACVR1C (1 document)

Export disorders for ACVR1C gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ACVR1C gene, integrated from 10 sources (see all 26):
(articles sorted by number of sources associating them with ACVR1C)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of novel isoforms of activin receptor-like kinase 7 (ALK7) generated by alternative splicing and expression of ALK7 and its ligand, Nodal, in human placenta. (PubMed id 12606401)1, 2, 9 Roberts H.J.... Peng C. (Biol. Reprod. 2003)
  2. cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C). (PubMed id 12063393)1, 2, 9 Bondestam J.... Ritvos O. (Cytogenet. Cell Genet. 2001)
  3. Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7. (PubMed id 15531507)1, 2, 9 Xu G.... Peng C. (J. Clin. Endocrinol. Metab. 2004)
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  7. ALK7 expression is specific for adipose tissue, reduced in obesity and correlates to factors implicated in metabolic disease. (PubMed id 19275893)1, 9 Carlsson L.M....SjAPholm K. (Biochem. Biophys. Res. Commun. 2009)
  8. Cyclin G2 is degraded through the ubiquitin-proteasome pathway and mediates the antiproliferative effect of activin receptor-like kinase 7. (PubMed id 18784254)1, 9 Xu G....Peng C. (Mol. Biol. Cell 2008)
  9. Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells. (PubMed id 15150278)1, 9 Munir S....Peng C. (J. Biol. Chem. 2004)
  10. Activin receptor-like kinase 7 induces apoptosis through up-regulation of Bax and down-regulation of Xiap in normal and malignant ovarian epithelial cell lines. (PubMed id 16603637)1, 9 Xu G....Peng C. (Mol. Cancer Res. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 130399 HGNC: 18123 AceView: ACVR1C Ensembl:ENSG00000123612 euGenes: HUgn130399
ECgene: ACVR1C Kegg: 130399 H-InvDB: ACVR1C

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ACVR1C Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ACVR1C Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ACVR1C gene:
Search GeneIP for patents involving ACVR1C

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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