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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)

Explore 37 diseases affiliated with
ACVRL1 via

MalaCards

our new
Human Malady Compendium

(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 II-Like 1¹ ²		TSR-I² ³
ACVRLK1¹ ² ³ ⁵		TGF-B Superfamily Receptor Type I² ³
ALK1¹ ² ³ ⁵		EC 2.7.11.30³ ⁸
HHT2¹ ² ⁵		Activin A Receptor, Type II-Like Kinase 1²
HHT¹ ²		Serine/Threonine-Protein Kinase Receptor R3²
ORW2¹ ²		Activin Receptor-Like Kinase 1³
ALK-1² ³		EC 2.7.11⁸
SKR3² 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:

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)

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

(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_000012.11 NC_018923.1 NT_029419.12

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 plasmid: ACVRL1 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 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: 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 PhosphoSitePlus²

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 MOPED and PaxDb: --

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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	Sino Biological Recombinant Protein for ACVRL1
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	Uscn Proteins for ACVRL1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	IDA	8242742
GO:0009986	cell surface	IDA	8242742
GO:0016020	membrane	--	--
GO:0030425	dendrite	IEA	--
GO:0043025	neuronal cell body	IEA	--

ACVRL1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ACVRL1

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

ACVRL1 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

IPR000719 Prot_kinase_cat_dom

Graphical View of Domain Structure for InterPro Entry P37023

ProtoNet protein and cluster: P37023

1 Blocks protein family: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004674	protein serine/threonine kinase activity	IDA	12065756
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	RCA	8242742
GO:0004702	receptor signaling protein serine/threonine kinase activity	IEA	--
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	8242742
GO:0005025	contributes to transforming growth factor beta receptor activity, type I	IDA	8242742

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:
Mouse knock-outs for ACVRL1: Acvrl1^tm2.2Spo Acvrl1^tm1Enl Acvrl1^tm1Dyl

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACVRL1

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		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate ACVRL1 (see all 24):
		hsa-miR-485-5p hsa-miR-193a-3p hsa-miR-3938 hsa-miR-330-5p hsa-miR-486-3p hsa-miR-181a-2* hsa-miR-1205 hsa-miR-637

		SwitchGear 3'UTR luciferase reporter plasmid: ACVRL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVRL1

(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 - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Id Signaling Pathway

Id Signaling Pathway

1.00

TGF-beta Receptor Signaling Pathway

TGF-beta Receptor Signaling Pathway

1.00

TGF-beta Signaling Pathways

TGF-beta Signaling Pathways

1.00

ALK1 pathway

ALK1 pathway

1.00

Pathway sources
See GeneCards unified pathways
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

	Id Signaling Pathway
	TGF-beta Receptor Signaling Pathway
	ALK1 signaling events
	ALK1 pathway

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACVRL1

5/15 Interacting proteins for ACVRL1 (P37023^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TGFB1	P01137³	I2D: score=4
TGFBR2	P37173³	I2D: score=4
TGFBR1	P36897³	I2D: score=3
ENG	P17813³	I2D: score=2
SNX6	Q9UNH7³	I2D: 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IMP	16752392
GO:0001701	in utero embryonic development	IEA	--
GO:0001936	regulation of endothelial cell proliferation	TAS	--
GO:0001937	negative regulation of endothelial cell proliferation	IEA	--
GO:0001938	positive 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, 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

4 HMDB Compounds for ACVRL1 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--

1 DrugBank Compound for ACVRL1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine triphosphate	5'-ATP (see all 8)	56-65-5	target	--	17139284 17016423

6 Novoseek 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 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, Sirion Biotech, 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 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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		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate ACVRL1 (see all 24):
		hsa-miR-485-5p hsa-miR-193a-3p hsa-miR-3938 hsa-miR-330-5p hsa-miR-486-3p hsa-miR-181a-2* hsa-miR-1205 hsa-miR-637

		SwitchGear 3'UTR luciferase reporter plasmid: ACVRL1 3' UTR sequence

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Additional cDNA 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):

AA359616 BM713543 AI740840 CD367529 CR599504 BX460313 CD367285 BM726875

BU739570 AW205372 BX105121 BU683521 BM978185 BM674882 AA296201 AI799845

BM717681 AA296280 BM712769 AI973089 AI659369 AI672874 BU633341 CR596233

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

About this image

ACVRL1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lateral Plate Mesoderm

Paired Dorsal Aorta

Arterial endothelial cells

Endothelium

Extraembryonic Mesoderm

Extraembryonic Mural Cells

Extraembryonic Tissues

Lateral Plate Mesoderm

Splanchnic Mesoderm

Mural Cells

Pericytes, Smooth Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

Human umbilical vein endothelial cells (HUVEC) (Primary Cell)

Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

Genevestigator expression for ACVRL1

SOURCE GeneReport for Unigene cluster: Hs.591026

SABiosciences Expression via Pathway-Focused PCR Arrays including ACVRL1:

TGFB/BMP Signaling Pathway in human mouse rat

TGFB Signaling Targets in human mouse rat

Stem Cell Signaling in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACVRL1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACVRL1

(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 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	62(a)	1 ↔ 1	2(92589271-92618460)
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 --
worm (Caenorhabditis elegans)	Secernentea	daf-1³	protein kinase	39(a) (best of 2)		IV(132451-137621) --

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

TGFBR2² ACVR1C² AMHR2² ACVR2A² ACVR2B² ACVR1B² TGFBR1² 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, 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

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28936687^1,2	C	pathogenic	49341307(+)	`AAAAGG/ACCGCT`	4	/D /G	mis¹ ese³		1		NA	2
rs28936688^1,2	C	pathogenic	49342350(+)	`GCAGTG/ATTGCA`	4	/Y /C	mis¹		2		NA	4
rs28936401^1,2	C	pathogenic	49342974(+)	`CCAAGC/TGGTAC`	4	R W	mis¹		2		NA	4
rs28936399^1,2	C	pathogenic	49342981(+)	`GTACAT/GGGCAC`	4	/R /M	mis¹ ese³		2		NA	4
rs121909284^1,2	C	pathogenic	49343086(+)	`CCGCCA/C/GGACCA`	6	Q P R	mis¹		0	--	--	--	--
rs150140878^1,2	C	other	49343015(+)	`CGCACG/AGACTG`	4	/T	syn¹		1		NA	4548
rs76742002^1,2	F	--	49332413(+)	`CTCTCA/GGACTA`	1	--	us2k¹		1		WA	118
rs80269938^1,2	C,F	--	49332448(+)	`CTCTCG/ACTTCT`	1	--	us2k¹		1		WA	118
rs73111518^1,2	C	--	49332599(+)	`CTGAAC/AGAGCA`	1	--	us2k¹		1		NA	2
rs117564283^1,2	C,F	--	49333171(+)	`GCCTAC/TGGTAA`	1	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for ACVRL1 (52300692 - 52317145 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACVRL1: --
Human Gene Mutation Database (HGMD): ACVRL1

Locus Specific Mutation Databases (LSDB): ACVRL1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACVRL1

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

ACVRL1 for disorders           About GeneDecksing

OMIM gene information: 601284
OMIM disorders: 600376
UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023

Defects in ACVRL1 are the cause of hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]; also

known as Osler-Rendu-Weber syndrome 2 (ORW2). HHT2 is an 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

20/37 diseases for ACVRL1 (see all 37): About MalaCards

weber syndrome mixed connective tissue disease lymphomatoid papulosis connective tissue disease

klippel-trenaunay syndrome arteriovenous malformation hereditary hemorrhagic telangiectasia type 2 hereditary hemorrhagic telangiectasia

anaplastic large cell lymphoma angiodysplasia inflammatory myofibroblastic tumor primary pulmonary hypertension

b-cell lymphomas pulmonary hypertension telangiectasis vascular malformations

sickle cell disease leiomyosarcoma hypertension hepatopulmonary syndrome

4 diseases from the University of Copenhagen DISEASES database for ACVRL1:

Hereditary hemorrhagic telangiectasia Telangiectasis Arteriovenous malformation Angiodysplasia

10/30 Novoseek 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

Hereditary Hemorrhagic Telangiectasia

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)
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PubMed articles for ACVRL1 gene, integrated from 9 sources (see all 266):
(articles sorted by number of sources associating them with ACVRL1)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
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)
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)
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)
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)
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. (PubMed id 9245985)^{1, 2, 9} Berg J.N.... Marchuk D.A. (1997)
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PubMed id 15024723)^{1, 2, 9} Lesca G.... Giraud S. (2004)
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (PubMed id 11484689)^{1, 2, 9} Trembath R.C.... Morrell N.W. (2001)
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PubMed id 12920067)^{1, 4, 9} Berg J....Guttmacher A. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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

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

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

Intellectual Property for ACVRL1 gene
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ACVRL1 Gene

activin A receptor type II-like 1

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Lymphoma
Telangiectasia Hereditary Hemorrhagic
Telangiectasia
Arteriovenous Malformations
HYPERTENSION ARTERIAL
polyposis
Angiodysplasia
coagulopathy
Germ-Line Mutation
dysplasia
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Atherosclerosis
anaplastic large cell lymphoma
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ACVRL1 Gene

activin A receptor type II-like 1

Aliasesfor ACVRL1 gene

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