ACVRL1 (activin A receptor like type 1) - Rat Genome Database

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Gene: ACVRL1 (activin A receptor like type 1) Canis lupus familiaris
Analyze
Symbol: ACVRL1
Name: activin A receptor like type 1
RGD ID: 12077612
Description: ENCODES a protein that exhibits activin binding (inferred); activin receptor activity, type I (inferred); ATP binding (inferred); INVOLVED IN angiogenesis (ortholog); blood vessel morphogenesis (ortholog); BMP signaling pathway (ortholog); PARTICIPATES IN activin signaling pathway; ASSOCIATED WITH arteriovenous malformation (ortholog); arteriovenous malformations of the brain (ortholog); Cognitive Impairment with or Without Cerebellar Ataxia (ortholog); FOUND IN cell surface (ortholog); dendrite (ortholog); neuronal cell body (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: serine/threonine-protein kinase receptor R3
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,075,373 - 3,090,549 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,076,124 - 3,092,469 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,166,746 - 43,181,176 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0273,072,148 - 3,086,549 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl273,072,149 - 3,081,623 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1273,088,717 - 3,103,128 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0273,075,021 - 3,089,444 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02743,565,141 - 43,579,587 (+)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IEA)
angiogenesis  (IEA,ISO)
artery development  (IEA)
blood circulation  (IEA)
blood vessel morphogenesis  (IEA,ISO)
blood vessel remodeling  (IEA)
BMP signaling pathway  (IEA,ISO)
cell surface receptor protein serine/threonine kinase signaling pathway  (IEA)
cellular response to BMP stimulus  (IEA)
cellular response to transforming growth factor beta stimulus  (IEA)
dorsal aorta morphogenesis  (IEA)
endocardial cushion morphogenesis  (IEA)
endocardial cushion to mesenchymal transition  (ISO)
endothelial tube morphogenesis  (IEA)
heart development  (IEA)
in utero embryonic development  (IEA,ISO)
lymphangiogenesis  (IEA)
lymphatic endothelial cell differentiation  (IEA)
negative regulation of blood vessel endothelial cell migration  (IEA)
negative regulation of cell adhesion  (IEA)
negative regulation of cell growth  (IEA)
negative regulation of cell migration  (IEA)
negative regulation of cell population proliferation  (IEA)
negative regulation of endothelial cell differentiation  (IEA)
negative regulation of endothelial cell migration  (IEA)
negative regulation of endothelial cell proliferation  (IEA)
negative regulation of focal adhesion assembly  (IEA)
negative regulation of gene expression  (IEA)
positive regulation of angiogenesis  (IEA,ISO)
positive regulation of bicellular tight junction assembly  (IEA)
positive regulation of BMP signaling pathway  (IEA)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of endothelial cell differentiation  (IEA)
positive regulation of endothelial cell proliferation  (IEA)
positive regulation of epithelial cell differentiation  (IEA,ISO)
positive regulation of Notch signaling pathway  (IEA,ISO)
positive regulation of SMAD protein signal transduction  (IEA)
positive regulation of transcription by RNA polymerase II  (IEA)
regulation of blood pressure  (IEA)
regulation of DNA-templated transcription  (IEA)
response to hypoxia  (ISO)
retina vasculature development in camera-type eye  (IEA)
signal transduction  (IEA)
transforming growth factor beta receptor signaling pathway  (IEA,ISO)
venous blood vessel development  (IEA)
wound healing, spreading of epidermal cells  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
ACVRL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,075,373 - 3,090,549 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,076,124 - 3,092,469 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,166,746 - 43,181,176 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0273,072,148 - 3,086,549 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl273,072,149 - 3,081,623 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1273,088,717 - 3,103,128 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0273,075,021 - 3,089,444 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02743,565,141 - 43,579,587 (+)NCBIUU_Cfam_GSD_1.0
ACVRL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381251,906,944 - 51,923,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1251,906,908 - 51,923,361 (+)EnsemblGRCh38hg38GRCh38
GRCh371252,301,288 - 52,317,145 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361250,587,469 - 50,603,412 (+)NCBINCBI36Build 36hg18NCBI36
Build 341250,587,468 - 50,601,120NCBI
Celera1251,103,338 - 51,119,286 (+)NCBICelera
Cytogenetic Map12q13.13ENTREZGENE
HuRef1249,334,280 - 49,350,228 (+)NCBIHuRef
CHM1_11252,267,590 - 52,283,516 (+)NCBICHM1_1
T2T-CHM13v2.01251,870,516 - 51,886,934 (+)NCBIT2T-CHM13v2.0
Acvrl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915101,026,403 - 101,043,217 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15101,026,403 - 101,043,217 (+)EnsemblGRCm39 Ensembl
GRCm3815101,128,522 - 101,145,336 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15101,128,522 - 101,145,336 (+)EnsemblGRCm38mm10GRCm38
MGSCv3715100,958,968 - 100,975,767 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615100,956,556 - 100,986,456 (+)NCBIMGSCv36mm8
Celera15103,276,934 - 103,293,737 (+)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1556.41NCBI
Acvrl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87134,117,917 - 134,135,306 (+)NCBIGRCr8
mRatBN7.27132,239,200 - 132,256,592 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7132,239,729 - 132,256,591 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7134,047,098 - 134,058,156 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07136,276,614 - 136,287,668 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07136,187,385 - 136,198,468 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07142,769,942 - 142,787,336 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7142,776,252 - 142,787,335 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07140,571,236 - 140,588,083 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47139,873,596 - 139,884,675 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17139,944,251 - 139,961,111 (+)NCBI
Celera7128,712,554 - 128,723,633 (+)NCBICelera
Cytogenetic Map7q36NCBI
Acvrl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555472,279,042 - 2,294,443 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555472,278,548 - 2,293,865 (+)NCBIChiLan1.0ChiLan1.0
ACVRL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21042,272,321 - 42,288,400 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11242,269,084 - 42,282,021 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01236,839,869 - 36,856,351 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11237,615,888 - 37,631,691 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1237,615,888 - 37,631,691 (-)Ensemblpanpan1.1panPan2
Acvrl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494563,786,735 - 63,800,651 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365129,364,149 - 9,379,431 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365129,364,551 - 9,379,131 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACVRL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl517,268,130 - 17,286,276 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1517,267,483 - 17,284,155 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2517,850,783 - 17,871,395 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACVRL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11148,063,099 - 48,091,705 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1148,082,135 - 48,093,630 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037197,998,886 - 198,027,294 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acvrl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624816404,358 - 426,217 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624816402,412 - 426,217 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACVRL1
292 total Variants

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system adipose tissue
High
Medium 4 3 11 6 6 2 10 6
Low 1 2 11 6 6 6 10 8
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts XM_005636803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_014108648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_022411071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038438130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038438131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038512824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038512825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038577717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038577718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038640585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038640586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_534796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AAEX04000027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAHUQ010000296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAQRD010000069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAUVH010000362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC536034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC536035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC536036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC536037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  REHQ01000027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSCAFT00000039088   ⟹   ENSCAFP00000034899
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl273,077,396 - 3,085,770 (-)Ensembl
RefSeq Acc Id: ENSCAFT00000071290   ⟹   ENSCAFP00000047684
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl273,076,124 - 3,092,469 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845048446   ⟹   ENSCAFP00845038005
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl273,072,149 - 3,081,623 (-)Ensembl
RefSeq Acc Id: XM_014108648   ⟹   XP_013964123
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1273,075,373 - 3,090,045 (-)NCBI
Dog10K_Boxer_Tasha2743,166,746 - 43,181,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_022411071   ⟹   XP_022266779
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1273,075,373 - 3,086,644 (-)NCBI
Dog10K_Boxer_Tasha2743,169,797 - 43,181,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_038438130   ⟹   XP_038294058
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0273,072,148 - 3,083,519 (-)NCBI
RefSeq Acc Id: XM_038438131   ⟹   XP_038294059
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0273,072,148 - 3,086,549 (-)NCBI
RefSeq Acc Id: XM_038512824   ⟹   XP_038368752
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.1273,088,717 - 3,100,085 (-)NCBI
RefSeq Acc Id: XM_038512825   ⟹   XP_038368753
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.1273,088,717 - 3,103,128 (-)NCBI
RefSeq Acc Id: XM_038577717   ⟹   XP_038433645
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.02743,568,194 - 43,579,587 (+)NCBI
RefSeq Acc Id: XM_038577718   ⟹   XP_038433646
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.02743,565,141 - 43,579,587 (+)NCBI
RefSeq Acc Id: XM_038640585   ⟹   XP_038496513
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.0273,075,021 - 3,086,427 (-)NCBI
RefSeq Acc Id: XM_038640586   ⟹   XP_038496514
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.0273,075,021 - 3,089,444 (-)NCBI
RefSeq Acc Id: XP_013964123   ⟸   XM_014108648
- Peptide Label: isoform X2
- UniProtKB: A0A7I8AUV5 (UniProtKB/TrEMBL),   A0A8C0JIT4 (UniProtKB/TrEMBL),   A0A8P0SR48 (UniProtKB/TrEMBL),   A0A7I8AVG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_022266779   ⟸   XM_022411071
- Peptide Label: isoform X1
- UniProtKB: A0A7I8AVG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCAFP00000034899   ⟸   ENSCAFT00000039088
RefSeq Acc Id: ENSCAFP00000047684   ⟸   ENSCAFT00000071290
RefSeq Acc Id: XP_038368753   ⟸   XM_038512825
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038368752   ⟸   XM_038512824
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038496514   ⟸   XM_038640586
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038496513   ⟸   XM_038640585
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038294059   ⟸   XM_038438131
- Peptide Label: isoform X2
- UniProtKB: A0A7I8AUV5 (UniProtKB/TrEMBL),   A0A8C0JIT4 (UniProtKB/TrEMBL),   A0A8P0SR48 (UniProtKB/TrEMBL),   A0A7I8AVG8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038294058   ⟸   XM_038438130
- Peptide Label: isoform X1
- UniProtKB: A0A7I8AVG8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038433646   ⟸   XM_038577718
- Peptide Label: isoform X2
- UniProtKB: A0A7I8AUV5 (UniProtKB/TrEMBL),   A0A7I8AVG8 (UniProtKB/TrEMBL),   A0A8C0JIT4 (UniProtKB/TrEMBL),   A0A8P0SR48 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038433645   ⟸   XM_038577717
- Peptide Label: isoform X1
- UniProtKB: A0A7I8AVG8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSCAFP00845038005   ⟸   ENSCAFT00845048446
Protein Domains
GS   Protein kinase


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000025220 Ensembl, UniProtKB/TrEMBL
  ENSCAFG00845027472 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000039088.4 UniProtKB/TrEMBL
  ENSCAFT00845048446 ENTREZGENE
  ENSCAFT00845048446.1 UniProtKB/TrEMBL
Gene3D-CATH 2.10.60.10 UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/TrEMBL
InterPro GS_dom UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/TrEMBL
  Snake_toxin-like_sf UniProtKB/TrEMBL
  TGFB_receptor UniProtKB/TrEMBL
KEGG Report cfa:477603 UniProtKB/TrEMBL
NCBI Gene ACVRL1 ENTREZGENE
PANTHER PTHR23255 UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE RECEPTOR R3 UniProtKB/TrEMBL
Pfam PK_Tyr_Ser-Thr UniProtKB/TrEMBL
  TGF_beta_GS UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/TrEMBL
  PS51256 UniProtKB/TrEMBL
SMART S_TKc UniProtKB/TrEMBL
  SM00467 UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/TrEMBL
  SSF57302 UniProtKB/TrEMBL
UniProt A0A7I8AUF1_CANLF UniProtKB/TrEMBL
  A0A7I8AUV5 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I8AVG8 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I8AVU8_CANLF UniProtKB/TrEMBL
  A0A8C0JIT4 ENTREZGENE
  A0A8P0SR48 ENTREZGENE, UniProtKB/TrEMBL
VGNC ID VGNC:37566 ENTREZGENE