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

ACVR1C Gene

protein-coding   GIFtS: 66
GCID: GC02M158352

activin A receptor, type IC
 Explore 7 diseases affiliated with
ACVR1C via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACVR1C    

Aliases
for ACVR1C gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Activin A Receptor, Type IC1 2     ACTR-IC2 3
ALK71 2 3 5     ALK-72 3
ACVRLK71 2     EC 2.7.11.303 8
Activin Receptor Type IC2 3     Activin Receptor Type-1C2
Activin Receptor-Like Kinase 72 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


Summaries
for ACVR1C gene

(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:
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)

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:
Activin receptors transduce signals carried by the TGF-? 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. Bone morphogenetic proteins (BMPs) are a group of growth factors
belonging to the transforming growth factor-? (TGF-?) superfamily (excluding BMP1). Primarily characterized
by their effects on bone and cartilage formation, research has further elucidated a role for BMPs in cell
growth and development.There are currently 20 known BMP isoforms, which form dimers in order to bind a
tetrameric receptor complex composed of type I and type II BMP receptor subunits. ALK2, ALK3 and ALK6
function as BMP type I receptors, the latter of which are structurally similar. Three BMP type II receptors
have also been identified: BMPR2, and type II and IIB activin receptors (ACVR2A and ACVR2B). ALK2, ACVR2A
and ACVR2B also function as receptors for activins.Signal transduction is continued through Smad proteins.
Receptor-regulated Smads (R-Smads) are phosphorylated by activation of type I receptors and form heteromeric
complexes with Co-Smads. These complexes regulate the transcription of target genes in the nucleus.

Gene Wiki entry for ACVR1C


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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

Proteins
for ACVR1C gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 3): ACVR1C
    OriGene Custom Protein Services for ACVR1C 
    GenScript Custom Purified and Recombinant Proteins Services for ACVR1C
    Novus Biologicals ACVR1C Proteins
    Novus Biologicals ACVR1C Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ACVR1C

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0048179activin receptor complex IDA15531507


    ACVR1C for ontologies           About GeneDecksing



    ACVR1C Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACVR1C
    R&D Systems Antibodies for ACVR1C (ALK-7)
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    Novus Biologicals ACVR1C Antibodies
    Abcam antibodies for ACVR1C 
    Uscn Antibodies for ACVR1C
    ThermoFisher Antibodies for ACVR1C

    Assay Products for ACVR1C: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ACVR1C
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ACVR1C

    Protein Domains /
    Families
    for ACVR1C gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACVR1C for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: 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


    Function
    for ACVR1C gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

    Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

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

    OriGene 3'-UTR Clone (see all 4): ACVR1C
    Browse MicroRNA Expression Plasmids
    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 plasmid: ACVR1C 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVR1C (see all 7)
    OriGene shRNA RFP: ACVR1C
    OriGene siRNA: ACVR1C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVR1C

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ACVR1C

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACVR1C (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACVR1C (see all 6)
    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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    Search LifeMap BioReagents cell lines for ACVR1C

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVR1C

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005024transforming growth factor beta-activated receptor activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016361activin receptor activity, type I IDA12063393
    GO:0038100nodal binding IMP--
    GO:0046872metal ion binding IC12063393


    ACVR1C for ontologies           About GeneDecksing


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

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

    ACVR1C for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ACVR1C gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NODAL
    		Signaling by NODAL1.00
    		Signaling by Activin0.36
    		Regulation of Signaling by NODAL0.56
    2Human Embryonic Stem Cell Pluripotency
    		Human Embryonic Stem Cell Pluripotency1.00
    3MAPK signaling pathway
    		MAPK signaling pathway1.00
    4TGF-beta signaling pathway
    		TGF-beta signaling pathway1.00
    5Axon guidance
    		Developmental Biology0.69

    Pathway sources
    See GeneCards unified pathways
    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

    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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002021response to dietary excess IEA--
    GO:0006468protein phosphorylation IC12063393
    GO:0008285negative regulation of cell proliferation ----
    GO:0009749response to glucose stimulus IEA--
    GO:0019915lipid storage IEA--


    ACVR1C for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACVR1C gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    A 83-01 Selective inhibitor of TGF-betaRI, ALK4 and ALK7 [909910-43-6]
    SB 431542 Potent, selective inhibitor of TGF-betaRI, ALK4 and ALK7 [301836-41-9]

    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 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 

    Transcripts
    for ACVR1C gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 4): ACVR1C
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: ACVR1C 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACVR1C (see all 7)
    OriGene shRNA RFP: ACVR1C
    OriGene siRNA: ACVR1C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACVR1C
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACVR1C (see all 7)
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    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)
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACVR1C
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACVR1C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACVR1C

    Additional cDNA 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 CD637599 CD637613 CD637605 CD637603 AY127050 CD637609 CD637592 
    AF525681 BC022530 AF525679 CD637607 CD637278 BQ711640 NM_145259 CD637601 
    CD637611 AF525680 CD637280 BP382222 CD637597 BU167095 BE787024 BF966584 

    GeneLoc Exon Structure


    Expression
    for ACVR1C gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ACVR1C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACVR1C
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACVR1C
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACVR1C
    QIAGEN 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
    for ACVR1C gene

    (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 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 89(a)
    		 1 ↔ 1
    		 AAWZ02038267(1851-10640)
    zebrafish
    (Danio rerio)    		 Actinopterygii CABZ01079442.16
    		 --
    		 66(a)
    		 1 ↔ 1
    		 9(5289140-5330274)
    fruit fly
    (Drosophila melanogaster)    		 Insecta babo6
    		 baboon
    		 41(a)
    		 1 → many
    		 2R(4839846-4850301)
    worm
    (Caenorhabditis elegans)    		 Secernentea sma-66
    daf-16
    		 Cell surface receptor daf-1
    		 25(a)
    24(a)
    		 1 ↔ many
    possible ortholog
    		 II(6324452-6327324)
    IV(132416-138076)


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

    Paralogs
    for ACVR1C gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACVR1C gene
    TGFBR22  AMHR22  ACVR2A2  ACVR2B2  ACVR1B2  TGFBR12  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


    Genomic Variants
    for ACVR1C gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1343 NCBI SNPs in ACVR1C are shown (see all 1343)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1145836031,2
    		C,F,other158412624(+) GAGGCG/AGTCAC 6 /T syn1 int12Minor allele frequency- A:0.00WA NA 4766
    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--------
    rs76044201,2
    		C,F,A,--158383205(+) TCCAAT/CACCCT 4 -- int111Minor allele frequency- C:0.15NA WA CSA EA 373
    rs75772521,2
    		C,F,A,--158383213(+) CCTCCA/GCATAC 4 -- int112Minor allele frequency- G:0.10NA WA CSA EA 374

    HapMap Linkage Disequilibrium report for ACVR1C (158383279 - 158485517 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ACVR1C
         5 Indels: 40379 45882 42304 26472 98026
    Human Gene Mutation Database (HGMD): ACVR1C

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    Disorders / Diseases
    for ACVR1C gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ACVR1C for disorders           About GeneDecksing

    OMIM gene information: 608981    OMIM disorders: --

    7 diseases for ACVR1C:    About MalaCards
    fibrodysplasia ossificans progressiva    epithelial ovarian cancer    ovarian cancer    pharyngitis
    obesity    pancreatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ACVR1C:
    Myositis ossificans
    Human Genome Epidemiology (HuGE) Navigator: ACVR1C (1 document)

    Export disorders for ACVR1C gene to outside databases

    Publications
    for ACVR1C gene

    (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 23):
    (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. 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)
    5. 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)
    6. 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)
    7. 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)
    8. Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells. (PubMed id 15150278)1, 9 Munir S....Peng C. (2004)
    9. 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)
    10. Insulin gene is a target in activin receptor-like kinase 7 signaling pathway in pancreatic beta-cells. (PubMed id 18951876)1, 9 Watanabe R....Yamada Y. (2008)

    External Searches for ACVR1C gene

    (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)

    Genome Databases showing ACVR1C gene

    (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

    Other Databases showing ACVR1C gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACVR1C gene

    (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

    Intellectual Property
    for ACVR1C gene

    (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



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    About This Section

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