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

ACVRL1 Gene

protein-coding   GIFtS: 69
GCID: GC12P052300

Activin A Receptor Type II-Like 1


(Previous symbols: ACVRLK1, ORW2)
  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 II-Like 11 2     EC 2.7.11.303 8
ACVRLK11 2 3 5     HHT22 5
ALK12 3 5     HHT2
ORW21 2     Activin A Receptor, Type II-Like Kinase 12
ALK-12 3     Serine/Threonine-Protein Kinase Receptor R32
SKR32 3     Activin Receptor-Like Kinase 13
TSR-I2 3     EC 2.7.118
TGF-B Superfamily Receptor Type I2 3     

External Ids:    HGNC: 1751   Entrez Gene: 942   Ensembl: ENSG000001395677   OMIM: 6012845   UniProtKB: P370233   

Export aliases for ACVRL1 gene to outside databases

Previous GC identifers: GC12M052630 GC12P052332 GC12P052017 GC12P050587 GC12P049334


(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 ACVRL1 Gene:
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other
type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich
region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein,
sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like
kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated
with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. (provided by RefSeq, Jul
2008)

GeneCards Summary for ACVRL1 Gene: 
ACVRL1 (activin A receptor type II-like 1) is a protein-coding gene. Diseases associated with ACVRL1 include hereditary hemorrhagic telangiectasia type 2, and mixed connective tissue disease, and among its related super-pathways are Akt Signaling and PAK Pathway. GO annotations related to this gene include protein serine/threonine kinase activity and SMAD binding. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
Function: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood
vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I
transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which
autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well

Gene Wiki entry for ACVRL1 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACVRL1 gene promoter:
         c-Fos   STAT1   AP-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACVRL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACVRL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACVRL1


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

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

ACVRL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACVRL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P052300:  view genomic region     (about GC identifiers)

Start:
52,300,692 bp from pter      End:
52,317,145 bp from pter
Size:
16,454 bases      Orientation:
plus 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: ACVL1_HUMAN, P37023 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase receptor R3 precursor  
Size: 503 amino acids; 56124 Da
Cofactor: Magnesium or manganese (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
3 PDB 3D structures from and Proteopedia for ACVRL1:
2LCR (3D)        3MY0 (3D)        4FAO (3D)    
Secondary accessions: A6NGA8

Explore the universe of human proteins at neXtProt for ACVRL1: NX_P37023

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P37023

  • 4/15 DME Specific Peptides for ACVRL1 (P37023) (see all 15)
     IADLGLA  YMAPEVL  KVVCVDQQ  RVGTKRYM 

    ACVRL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (2 alternative transcripts): 
    NP_000011.2  NP_001070869.1  

    ENSEMBL proteins: 
     ENSP00000455848   ENSP00000373574   ENSP00000446724   ENSP00000447884   ENSP00000392492  
     ENSP00000457394  

    Human Recombinant Protein Products for ACVRL1: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane IDA8242742
    GO:0009986cell surface IDA8242742
    GO:0016020membrane ----
    GO:0030425dendrite IEA--
    GO:0043025neuronal cell body IEA--

    ACVRL1 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 II-like 1 
    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
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry P37023

    ProtoNet protein and cluster: P37023

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

    UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
    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


    ACVRL1 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: ACVL1_HUMAN, P37023
    Function: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood
    vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I
    transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which
    autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for ACVRL1:
    activin A receptor,type II-like 1,homolog to ORW2

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity RCA8242742
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    ACVRL1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ACVRL1:
     Decreased Wnt reporter activit  Decreased substrate adherent c  Decreased viability with TRAIL  Increased apoptosis 
     Synthetic lethal with Ras 

         13 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Acvrl1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  liver/biliary system  mortality/aging  muscle 
     nervous system  normal  respiratory system 

    ACVRL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ACVRL1: Acvrl1tm2.2Spo Acvrl1tm1Enl Acvrl1tm1Dyl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACVRL1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidACVRL1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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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 ACVRL1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    2PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    3Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    4PEDF Induced Signaling
    STAT3 Pathway0.47
    5DREAM Repression and Dynorphin Expression
    BMP Pathway0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ACVRL1
        TGF-beta Signaling Pathways

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACVRL1 (see all 7)
        BMP Pathway
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling

    4 BioSystems Pathways for ACVRL1
        TGF-beta Receptor Signaling Pathway
    Id Signaling Pathway
    ALK1 signaling events
    ALK1 pathway

    1 Sino Biological Pathway for ACVRL1 
        TGF-beta Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACVRL1

    5/15 Interacting proteins for ACVRL1 (P370232, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFB1P011373I2D: score=4 
    TGFBR2P371733I2D: score=4 
    TGFBR1P368973I2D: score=3 
    ENGP178133I2D: score=2 
    SNX6Q9UNH73I2D: score=2 
    About this table

    Gene Ontology (GO): 5/44 biological process terms (GO ID links to tree view) (see all 44):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IMP16752392
    GO:0001701in utero embryonic development IEA--
    GO:0001936regulation of endothelial cell proliferation TAS--
    GO:0001937negative regulation of endothelial cell proliferation IEA--
    GO:0001938positive regulation of endothelial cell proliferation IEA--

    ACVRL1 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

    ACVRL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACVRL1 (ACVL1)

    4 HMDB Compounds for ACVRL1    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--

    1 DrugBank Compound for ACVRL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423

    6 Novoseek inferred chemical compound relationships for ACVRL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    [alcl] 71.3 9 12657933 (2), 10786813 (1), 17484779 (1), 12835569 (1) (see all 5)
    tgf beta1 48 7 17071858 (2), 16762882 (1), 19506300 (1), 16785228 (1) (see all 5)
    threonine 34.3 6 8397373 (1), 12700602 (1), 18159113 (1), 16785228 (1)
    vegf 27.8 22 19506300 (5), 18949376 (4), 15951295 (2), 18829861 (2) (see all 6)
    serine 14.9 6 12393874 (1), 8397373 (1), 12700602 (1), 18159113 (1)
    oligonucleotide 0 3 12384983 (2), 10899246 (1)

    Search CenterWatch for drugs/clinical trials and news about ACVRL1 / ACVL1

    (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 ACVRL1 gene (2 alternative transcripts): 
    NM_000020.2  NM_001077401.1  

    Unigene Cluster for ACVRL1:

    Activin A receptor type II-like 1
    Hs.591026  [show with all ESTs]
    Unigene Representative Sequence: NM_000020
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551576(uc021qxz.1) ENST00000388922 ENST00000547400 ENST00000550683(uc001rzj.3 uc001rzk.3 uc010snm.2)
    ENST00000419526 ENST00000552678 ENST00000547632 ENST00000550084
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    Additional mRNA sequence: 

    AK056725.1 AK298493.1 AK300619.1 AK303331.1 BC042637.1 L17075.1 Z22533.1 

    5 DOTS entries:

    DT.444614  DT.75104535  DT.452045  DT.95311383  DT.95163556 

    24/160 AceView cDNA sequences (see all 160):

    BU633341 BM712769 AI799845 AA296201 BM713543 BU739570 BM674882 AA359616 
    BU683521 BM978185 AI740840 AA913553 CD367529 CR599504 BX105121 AI659369 
    AI247327 CD367285 CR596233 BM717681 AI973089 BX460313 AI417883 BM726875 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ACVRL1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10
    SP1:              -     -                                                                                 
    SP2:                                                                                                      
    SP3:              -     -                 -     -     -     -     -     -                                 
    SP4:                                            -     -                                                   


    ECgene alternative splicing isoforms for ACVRL1

    (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

    ACVRL1 expression in normal human tissues (normalized intensities)      ACVRL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTAAATCCT
    ACVRL1 Expression
    About this image


    ACVRL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 18 entries
             Arterial Endothelial Cells Paired Dorsal Aorta
             PureStem endothelial progenitor 30-SM2-1
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
             Human Cardiac Microvascular Endothelial Cells (HCMEC)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Human Umbilical Vein Endothelial Cells (HUVEC) (BioTime)   
     
     Uncategorized (Uncategorized)    fully expand to see all 3 entries
             PureStem progenitor RP1-MV2-16
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
             PureStem endothelial Progenitor 30-SM2-3
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Arterial Endothelial Cells Paired Dorsal Aorta

    Genevestigator expression for ACVRL1

    SOURCE GeneReport for Unigene cluster: Hs.591026
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACVRL1: 
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    (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 ACVRL1 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acvrl11 , 5 activin A receptor, type II-like 11, 5 85.47(n)1
    89.2(a)1
      15 (56.41 cM)5
    114821  NM_009612.21  NP_033742.21 
     1011285225 
    chicken
    (Gallus gallus)
    Aves LOC1008574461 serine/threonine-protein kinase receptor R3-like 69.95(n)
    71.36(a)
      100857446  XM_003643393.1  XP_003643441.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACVRL16
    activin A receptor type II-like 1
    63(a)
    1 ↔ 1
    2(92587862-92619470)
    zebrafish
    (Danio rerio)
    Actinopterygii acvrl12 activin A receptor type II-like 1 75.91(n)   266753  AF435025.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sax3 anterior/posterior pattern formation,
    imaginal more
    49(a)   2 43E18   --


    ENSEMBL Gene Tree for ACVRL1 (if available)
    TreeFam Gene Tree for ACVRL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACVRL1 gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  
    ACVR12  BMPR22  BMPR1B2  
    8 SIMAP similar genes for ACVRL1 using alignment to 6 protein entries:     ACVL1_HUMAN (see all proteins):
    ACVR1    ACVR1C    TGFBR1    BMPR1A    BMPR1B    ACVR1B
    ACVR2B    ACVR2A

    ACVRL1 for paralogs           About GeneDecksing



    (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

    10/454 SNPs in ACVRL1 are shown (see all 454)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0062074
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0062072 C W mis40--------
    VAR_0267854
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0267852 G R mis40--------
    VAR_0062134
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0062132 R Q mis40--------
    VAR_0268094
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0268092 R W mis40--------
    VAR_0268154
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0268152 R W mis40--------
    VAR_0267974
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0267972 L P mis40--------
    VAR_0268084
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0268082 R P mis40--------
    VAR_0268034
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0268032 E K mis40--------
    VAR_0267864
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0267862 R W mis40--------
    VAR_0268104
    Hereditary hemorrhagic telangiectasia 2 (HHT2)4--see VAR_0268102 F L mis40--------

    HapMap Linkage Disequilibrium report for ACVRL1 (52300692 - 52317145 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACVRL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv707CNV Insertion18451855
    nsv527286CNV Loss19592680
    nsv523741CNV Loss19592680


    Human Gene Mutation Database (HGMD): ACVRL1

    Locus Specific Mutation Databases (LSDB): ACVRL1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601284   
    OMIM disorders: 600376  
    UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
  • Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]: Autosomal dominant multisystemic vascular
    dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and
    pulmonary, cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying
    vascular dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/45 diseases for ACVRL1 (see all 45):    About MalaCards
    hereditary hemorrhagic telangiectasia type 2    mixed connective tissue disease    angiodysplasia    acvrl1-related hereditary hemorrhagic telangiectasia
    lymphomatoid papulosis    heritable pulmonary arterial hypertension    hereditary hemorrhagic telangiectasia    arteriovenous malformation
    inflammatory myofibroblastic tumor    telangiectasis    vascular malformations    weber syndrome
    anaplastic large cell lymphoma    connective tissue disease    primary pulmonary hypertension    hepatopulmonary syndrome
    klippel-trenaunay syndrome    leiomyosarcoma    sickle cell disease    hypertension

    4 diseases from the University of Copenhagen DISEASES database for ACVRL1:
    Hereditary hemorrhagic telangiectasia     Telangiectasis     Arteriovenous malformation     Angiodysplasia

    ACVRL1 for disorders           About GeneDecksing

    10/30 Novoseek inferred disease relationships for ACVRL1 gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    telangiectasia hereditary hemorrhagic 97.1 112 11484689 (3), 10767348 (2), 16861286 (2), 16470589 (2) (see all 62)
    telangiectasia 92.6 42 15065824 (2), 14684682 (2), 11773580 (1), 16059938 (1) (see all 24)
    arteriovenous malformations 87.1 24 16470787 (2), 11773580 (1), 16059938 (1), 16762882 (1) (see all 16)
    anaplastic large cell lymphoma 75.3 3 12218210 (1), 12657933 (1), 11266530 (1)
    dysplasia 65.9 17 16059938 (1), 16595794 (1), 10749981 (1), 15065824 (1) (see all 11)
    lymphomatoid papulosis 65 1 17484779 (1)
    angiodysplasia 64.6 6 10187774 (1), 16429404 (1), 19205515 (1)
    primary pulmonary hypertension 62 3 11869166 (1), 15065824 (1), 11484689 (1)
    polyposis 60.2 2 16705692 (1), 16690726 (1)
    vascular diseases 60.1 33 14684682 (2), 12667943 (1), 15385967 (1), 18673552 (1) (see all 15)

    GeneTests: ACVRL1
    GeneReviews: ACVRL1
    Genetic Association Database (GAD): ACVRL1
    Human Genome Epidemiology (HuGE) Navigator: ACVRL1 (19 documents)

    Export disorders for ACVRL1 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 ACVRL1 gene, integrated from 9 sources (see all 274):
    (articles sorted by number of sources associating them with ACVRL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. (PubMed id 8640225)1, 2, 3, 9 Johnson D.W.... Marchuk D.A. (1996)
    2. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PubMed id 8397373)1, 2, 3, 9 ten Dijke P.... Miyazono K. (1993)
    3. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. (PubMed id 20056902)1, 4, 9 Girerd B....Humbert M. (2010)
    4. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PubMed id 10767348)1, 2, 9 Abdalla S.A.... Letarte M. (2000)
    5. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. (PubMed id 17388964)1, 4, 9 Sabba C....Guant G. (2007)
    6. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. (PubMed id 15712270)1, 2, 9 Kuehl H.K.A.... Stuhrmann M. (2005)
    7. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. (PubMed id 16705692)1, 4, 9 Lesca G....Giraud S. (2006)
    8. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. (PubMed id 10694922)1, 2, 9 Klaus D.J.... Marchuk D.A. (1998)
    9. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. (PubMed id 18498373)1, 4, 9 Brakensiek K....Stuhrmann M. (2008)
    10. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. (PubMed id 14684682)1, 2, 9 Harrison R.E.... Trembath R.C. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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: 94 HGNC: 175 AceView: ACVRL1 Ensembl:ENSG00000139567 euGenes: HUgn94
    ECgene: ACVRL1 H-InvDB: ACVRL1

    (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 ACVRL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACVRL1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACVRL1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACVRL1 gene:
    Search GeneIP for patents involving ACVRL1

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



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