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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACVR1C Gene

protein-coding   GIFtS: 67
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Regulation of Signaling by NODAL and Axon guidance. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACVR1C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Membrane; Single-pass type I membrane protein
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 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NER5

  • 4/12 DME Specific Peptides for ACVR1C (Q8NER5) (see all 12)
     IADLGLA  ASGLAHLH  TLKDLIYD  SGSGSGLP 

    ACVR1C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACVR1C Protein Expression
    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
    Human Recombinant Protein Products for ACVR1C: 
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    Cloud-Clone Corp. Proteins for ACVR1C 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    ACVR1C for ontologies           About GeneDecksing



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

    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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 - Custom generated mouse model solutions for ACVR1C 
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACVR1C
    8/168 QIAGEN miScript miRNA 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
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACVR1C About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by NODAL
    Signaling by NODAL0.56
    Signaling by Activin0.36
    Regulation of Signaling by NODAL0.56
    2Axon guidance
    Developmental Biology0.69
    3Signaling by GPCR
    Signal Transduction0.55
    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 QIAGEN 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

    5        Reactome Pathways for ACVR1C
        Signaling by Activin
    Developmental Biology
    Signal Transduction
    Signaling by NODAL
    Regulation of Signaling by NODAL


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


    ACVR1C for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACVR1C

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

    5/8 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
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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 stimulus 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACVR1C for compounds           About GeneDecksing

    EMD Millipore small molecules for ACVR1C:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about ACVR1C / ACV1C

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/32 AceView cDNA sequences (see all 32):

    BQ082584 CD637609 BU167095 AY127050 CD637613 CD637599 CD637607 AF525681 
    BC022530 CD637603 AF525679 CD637601 BQ711640 CD637605 BP382222 CD637280 
    CD637597 CD637278 NM_145259 AF525680 CD637592 CD637611 BF966584 BI601014 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACVR1C expression in normal human tissues (normalized intensities)      ACVR1C embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Tooth (Integumentary System)
             Dental Placode Cells Dental Placode
     
     Neural Tube (Nervous System)
             Prosencephalon

    See ACVR1C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACVR1C

    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

        SABiosciences Expression via Pathway-Focused PCR Array including ACVR1C: 
              Stem Cell Signaling in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACVR1C gene from 5/12 species (see all 12)    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(n)1
    92.9(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 73.31(n)
    82.93(a)
      424325  XM_422170.3  XP_422170.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACVR1C6
    Uncharacterized protein
    90(a)
    1 ↔ 1
    AAWZ02038267(1851-10724)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01079442.16
    Uncharacterized protein
    67(a)
    1 ↔ 1
    9(5289140-5330274)
    fruit fly
    (Drosophila melanogaster)
    Insecta babo6
    baboon
    41(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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1637 SNPs in ACVR1C are shown (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
    VAR_0414084
    ----see VAR_0414082 G R mis40--------
    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--------

    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
    SABiosciences Cancer Mutation PCR Assays
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    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.)
    About This Section
    OMIM gene information: 608981    OMIM disorders: --

    6 diseases for ACVR1C:    About MalaCards
    myositis ossificans    fibrodysplasia ossificans progressiva    myositis    ovarian cancer
    obesity    pancreatitis

    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)
    About This Section

    PubMed articles for ACVR1C gene, integrated from 9 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. (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. (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. (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. (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. (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. (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. (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. (2008)
    9. Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells. (PubMed id 15150278)1, 9 Munir S....Peng C. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 130399 HGNC: 18123 AceView: ACVR1C Ensembl:ENSG00000123612 euGenes: HUgn130399
    ECgene: ACVR1C Kegg: 130399 H-InvDB: ACVR1C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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