VASH2 (vasohibin 2) - Rat Genome Database

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Gene: VASH2 (vasohibin 2) Homo sapiens
Analyze
Symbol: VASH2
Name: vasohibin 2
RGD ID: 1602689
HGNC Page HGNC:25723
Description: Enables actin binding activity; metallocarboxypeptidase activity; and microtubule binding activity. Involved in axon development and proteolysis. Acts upstream of or within cell-cell fusion; positive regulation of angiogenesis; and positive regulation of endothelial cell proliferation. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ12505; RP11-275G3.1; testicular tissue protein Li 222; tubulinyl-Tyr carboxypeptidase 2; vasohibin-2; vasohibin-like protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381212,950,541 - 212,991,585 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1212,950,520 - 212,992,037 (+)EnsemblGRCh38hg38GRCh38
GRCh371213,123,883 - 213,164,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361211,190,600 - 211,230,875 (+)NCBINCBI36Build 36hg18NCBI36
Celera1186,345,429 - 186,386,460 (+)NCBICelera
Cytogenetic Map1q32.3NCBI
HuRef1183,798,827 - 183,839,870 (+)NCBIHuRef
CHM1_11214,396,217 - 214,437,251 (+)NCBICHM1_1
T2T-CHM13v2.01212,193,644 - 212,234,694 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytoskeleton  (IEA)
cytosol  (IDA)
extracellular region  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16528006   PMID:16710414   PMID:19204325   PMID:21832049   PMID:21873635   PMID:22438034   PMID:22614011   PMID:22826464   PMID:23100270  
PMID:23548203   PMID:23615928   PMID:24510904   PMID:24595063   PMID:25184477   PMID:25269476   PMID:25916042   PMID:26177649   PMID:27702660   PMID:27879017   PMID:28064471   PMID:28327155  
PMID:28514442   PMID:28882646   PMID:28960674   PMID:29039601   PMID:29042694   PMID:29146869   PMID:30318866   PMID:30940294   PMID:31074083   PMID:31171830   PMID:31235911   PMID:31324789  
PMID:32494966   PMID:32707033   PMID:33961781   PMID:35026646   PMID:35575683   PMID:35869758   PMID:35922907   PMID:37821528   PMID:38278467  


Genomics

Comparative Map Data
VASH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381212,950,541 - 212,991,585 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1212,950,520 - 212,992,037 (+)EnsemblGRCh38hg38GRCh38
GRCh371213,123,883 - 213,164,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361211,190,600 - 211,230,875 (+)NCBINCBI36Build 36hg18NCBI36
Celera1186,345,429 - 186,386,460 (+)NCBICelera
Cytogenetic Map1q32.3NCBI
HuRef1183,798,827 - 183,839,870 (+)NCBIHuRef
CHM1_11214,396,217 - 214,437,251 (+)NCBICHM1_1
T2T-CHM13v2.01212,193,644 - 212,234,694 (+)NCBIT2T-CHM13v2.0
Vash2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391190,679,843 - 190,711,500 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1190,679,843 - 190,711,493 (-)EnsemblGRCm39 Ensembl
GRCm381190,947,646 - 190,979,368 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1190,947,646 - 190,979,296 (-)EnsemblGRCm38mm10GRCm38
MGSCv371192,771,525 - 192,803,175 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361192,648,365 - 192,679,814 (-)NCBIMGSCv36mm8
Celera1197,872,475 - 197,904,193 (-)NCBICelera
Cytogenetic Map1H6NCBI
cM Map196.28NCBI
Vash2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr813105,060,857 - 105,092,325 (-)NCBIGRCr8
mRatBN7.213102,529,718 - 102,561,204 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl13102,529,719 - 102,560,391 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx13105,049,806 - 105,081,229 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013106,433,780 - 106,465,191 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.013103,648,776 - 103,680,181 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013109,521,190 - 109,552,607 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13109,521,190 - 109,552,589 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013114,122,604 - 114,154,107 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413107,030,990 - 107,050,262 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera13101,998,332 - 102,029,347 (-)NCBICelera
Cytogenetic Map13q27NCBI
Vash2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554064,607,924 - 4,640,002 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554064,607,924 - 4,639,949 (-)NCBIChiLan1.0ChiLan1.0
VASH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2136,415,190 - 36,473,100 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1136,381,263 - 36,422,336 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01188,512,970 - 188,554,037 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11193,371,541 - 193,411,540 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1193,371,541 - 193,411,540 (+)Ensemblpanpan1.1panPan2
VASH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1711,073,156 - 11,111,813 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl711,072,215 - 11,111,166 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha710,648,582 - 10,686,784 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0710,779,776 - 10,818,211 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl710,778,755 - 10,815,309 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1710,700,929 - 10,739,089 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0710,803,517 - 10,841,949 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0710,927,802 - 10,966,017 (+)NCBIUU_Cfam_GSD_1.0
Vash2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934463,386,362 - 63,420,323 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936557623,934 - 661,857 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936557622,947 - 661,495 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VASH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9130,473,857 - 130,511,246 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19130,473,854 - 130,511,307 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29143,400,798 - 143,438,269 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VASH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12516,564,009 - 16,603,961 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2516,566,999 - 16,603,962 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605517,059,010 - 17,100,041 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vash2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477118,303,664 - 18,332,674 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477118,303,632 - 18,334,438 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VASH2
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
NM_001136474.2(VASH2):c.572C>T (p.Pro191Leu) single nucleotide variant Malignant melanoma [RCV000064517] Chr1:212972849 [GRCh38]
Chr1:213146191 [GRCh37]
Chr1:211212814 [NCBI36]
Chr1:1q32.3		 not provided
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q32.3(chr1:213088559-213423221)x1 copy number loss See cases [RCV000240100] Chr1:213088559..213423221 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q32.3(chr1:213123908-213423221)x1 copy number loss See cases [RCV000240097] Chr1:213123908..213423221 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q32.3(chr1:212859808-213336495)x3 copy number gain See cases [RCV000240263] Chr1:212859808..213336495 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q32.3(chr1:213092201-213176992) copy number loss Abnormal esophagus morphology [RCV000416869] Chr1:213092201..213176992 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001301056.2(VASH2):c.763G>A (p.Glu255Lys) single nucleotide variant not specified [RCV004314201] Chr1:212972845 [GRCh38]
Chr1:213146187 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.765G>C (p.Glu255Asp) single nucleotide variant not specified [RCV004314202] Chr1:212972847 [GRCh38]
Chr1:213146189 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.860C>A (p.Ala287Asp) single nucleotide variant not specified [RCV004323695] Chr1:212972942 [GRCh38]
Chr1:213146284 [GRCh37]
Chr1:1q32.3		 uncertain significance
NC_000001.11:g.212950566_213249878del deletion not provided [RCV000678028] Chr1:212950566..213249878 [GRCh38]
Chr1:213123908..213423221 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q32.3(chr1:213054159-213549122)x3 copy number gain not provided [RCV000684696] Chr1:213054159..213549122 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3		 uncertain significance
NC_000001.11:g.(?_212858453)_(212997318_?)dup duplication not provided [RCV001032259] Chr1:213031795..213170660 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.11:g.(?_212782372)_(212951818_?)del deletion not provided [RCV001032942] Chr1:212955714..213125160 [GRCh37]
Chr1:1q32.3		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_213031795)_(213170660_?)dup duplication not provided [RCV001300826] Chr1:213031795..213170660 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh38/hg38 1q32.3(chr1:212337801-213362035) copy number loss Diaphragmatic hernia [RCV001823066] Chr1:212337801..213362035 [GRCh38]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q32.3(chr1:212846338-213356017)x3 copy number gain not provided [RCV001836517] Chr1:212846338..213356017 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.283A>G (p.Ile95Val) single nucleotide variant not specified [RCV004317717] Chr1:212961172 [GRCh38]
Chr1:213134514 [GRCh37]
Chr1:1q32.3		 likely benign
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001301056.2(VASH2):c.685A>G (p.Ile229Val) single nucleotide variant not specified [RCV004323495] Chr1:212972767 [GRCh38]
Chr1:213146109 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.743T>C (p.Ile248Thr) single nucleotide variant not specified [RCV004213054] Chr1:212972825 [GRCh38]
Chr1:213146167 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_001301056.2(VASH2):c.326A>C (p.Asp109Ala) single nucleotide variant not specified [RCV004177322] Chr1:212961215 [GRCh38]
Chr1:213134557 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.982C>T (p.Arg328Trp) single nucleotide variant not specified [RCV004120085] Chr1:212974057 [GRCh38]
Chr1:213147399 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.586C>G (p.Leu196Val) single nucleotide variant not specified [RCV004117499] Chr1:212972668 [GRCh38]
Chr1:213146010 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.754G>A (p.Val252Ile) single nucleotide variant not specified [RCV004099884] Chr1:212972836 [GRCh38]
Chr1:213146178 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.85C>A (p.Pro29Thr) single nucleotide variant not specified [RCV004166300] Chr1:212951627 [GRCh38]
Chr1:213124969 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.925C>T (p.Arg309Trp) single nucleotide variant not specified [RCV004270890] Chr1:212974000 [GRCh38]
Chr1:213147342 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.574C>T (p.His192Tyr) single nucleotide variant not specified [RCV004338001] Chr1:212972656 [GRCh38]
Chr1:213145998 [GRCh37]
Chr1:1q32.3		 uncertain significance
GRCh37/hg19 1q32.3(chr1:213038737-213132870)x1 copy number loss not provided [RCV003484022] Chr1:213038737..213132870 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.717C>T (p.Tyr239=) single nucleotide variant not provided [RCV003414759] Chr1:212972799 [GRCh38]
Chr1:213146141 [GRCh37]
Chr1:1q32.3		 likely benign
NM_001301056.2(VASH2):c.181C>T (p.His61Tyr) single nucleotide variant not specified [RCV004480130] Chr1:212951723 [GRCh38]
Chr1:213125065 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.338C>A (p.Ala113Glu) single nucleotide variant not specified [RCV004480131] Chr1:212961227 [GRCh38]
Chr1:213134569 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.667C>T (p.Arg223Trp) single nucleotide variant not specified [RCV004480132] Chr1:212972749 [GRCh38]
Chr1:213146091 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.739A>C (p.Lys247Gln) single nucleotide variant not specified [RCV004480133] Chr1:212972821 [GRCh38]
Chr1:213146163 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.928G>A (p.Gly310Arg) single nucleotide variant not specified [RCV004480134] Chr1:212974003 [GRCh38]
Chr1:213147345 [GRCh37]
Chr1:1q32.3		 uncertain significance
NM_001301056.2(VASH2):c.1004T>C (p.Leu335Pro) single nucleotide variant not specified [RCV004480135] Chr1:212988520 [GRCh38]
Chr1:213161862 [GRCh37]
Chr1:1q32.3		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
NM_001301056.2(VASH2):c.139G>C (p.Val47Leu) single nucleotide variant not specified [RCV004680873] Chr1:212951681 [GRCh38]
Chr1:213125023 [GRCh37]
Chr1:1q32.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3855
Count of miRNA genes:1171
Interacting mature miRNAs:1489
Transcripts:ENST00000271776, ENST00000366964, ENST00000366965, ENST00000366966, ENST00000366967, ENST00000366968, ENST00000366969, ENST00000481097, ENST00000490792, ENST00000493155, ENST00000517399, ENST00000519906
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597115590GWAS1211664_Hself reported educational attainment QTL GWAS1211664 (human)7e-10self reported educational attainment1212978238212978239Human
407028832GWAS677808_Heye color QTL GWAS677808 (human)7e-08eye color1212953223212953224Human
597227962GWAS1324036_Hself reported educational attainment QTL GWAS1324036 (human)4e-09self reported educational attainment1212978238212978239Human
597585932GWAS1642792_Htype 2 diabetes mellitus QTL GWAS1642792 (human)3e-08type 2 diabetes mellitus1212987484212987485Human
597180799GWAS1276873_Hpyruvate measurement QTL GWAS1276873 (human)7e-10pyruvate measurementblood pyruvate level (CMO:0002422)1212986280212986281Human
597116267GWAS1212341_Hanti-thyroglobulin antibody measurement QTL GWAS1212341 (human)0.000005anti-thyroglobulin antibody measurement1212961065212961066Human

Markers in Region
SHGC-76314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,163,141 - 213,163,389UniSTSGRCh37
Build 361211,229,764 - 211,230,012RGDNCBI36
Celera1186,384,670 - 186,384,918RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,838,080 - 183,838,328UniSTS
TNG Radiation Hybrid Map1104948.0UniSTS
GeneMap99-GB4 RH Map1696.32UniSTS
NCBI RH Map11791.2UniSTS
RH93064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,164,826 - 213,164,913UniSTSGRCh37
Build 361211,231,449 - 211,231,536RGDNCBI36
Celera1186,386,359 - 186,386,446RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,839,769 - 183,839,856UniSTS
GeneMap99-GB4 RH Map1696.73UniSTS
L17914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371213,123,948 - 213,124,072UniSTSGRCh37
Build 361211,190,571 - 211,190,695RGDNCBI36
Celera1186,345,490 - 186,345,614RGD
Cytogenetic Map1q32.3UniSTS
HuRef1183,798,888 - 183,799,012UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2787 2247 4964 1706 2330 6 604 1878 447 2268 7189 6396 53 3726 832 1742 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK022567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY834202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB960087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC350527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000271776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,641 - 212,974,927 (+)Ensembl
Ensembl Acc Id: ENST00000366964   ⟹   ENSP00000355931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,618 - 212,969,249 (+)Ensembl
Ensembl Acc Id: ENST00000366965   ⟹   ENSP00000355932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,635 - 212,990,910 (+)Ensembl
Ensembl Acc Id: ENST00000366966   ⟹   ENSP00000430319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,520 - 212,988,698 (+)Ensembl
Ensembl Acc Id: ENST00000366967   ⟹   ENSP00000429040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,667 - 212,988,924 (+)Ensembl
Ensembl Acc Id: ENST00000366968   ⟹   ENSP00000355935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,594 - 212,991,585 (+)Ensembl
Ensembl Acc Id: ENST00000366969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,966,957 - 212,972,918 (+)Ensembl
Ensembl Acc Id: ENST00000481097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,961,227 - 212,966,155 (+)Ensembl
Ensembl Acc Id: ENST00000490792   ⟹   ENSP00000419918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,595 - 212,951,812 (+)Ensembl
Ensembl Acc Id: ENST00000493155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,951,528 - 212,952,791 (+)Ensembl
Ensembl Acc Id: ENST00000517399   ⟹   ENSP00000428324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,950,541 - 212,991,585 (+)Ensembl
Ensembl Acc Id: ENST00000519906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1212,989,127 - 212,992,037 (+)Ensembl
RefSeq Acc Id: NM_001136474   ⟹   NP_001129946
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,950,541 - 212,991,585 (+)NCBI
GRCh371213,123,887 - 213,164,986 (+)NCBI
Celera1186,345,429 - 186,386,460 (+)RGD
HuRef1183,798,827 - 183,839,870 (+)ENTREZGENE
CHM1_11214,396,192 - 214,437,251 (+)NCBI
T2T-CHM13v2.01212,193,644 - 212,234,694 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001136475   ⟹   NP_001129947
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,950,541 - 212,991,585 (+)NCBI
GRCh371213,123,887 - 213,164,986 (+)NCBI
Celera1186,345,429 - 186,386,460 (+)RGD
HuRef1183,798,827 - 183,839,870 (+)ENTREZGENE
CHM1_11214,396,192 - 214,437,251 (+)NCBI
T2T-CHM13v2.01212,193,644 - 212,234,694 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301056   ⟹   NP_001287985
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,950,541 - 212,991,585 (+)NCBI
CHM1_11214,396,192 - 214,437,251 (+)NCBI
T2T-CHM13v2.01212,193,644 - 212,234,694 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024749   ⟹   NP_079025
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,950,541 - 212,991,585 (+)NCBI
GRCh371213,123,887 - 213,164,986 (+)NCBI
Build 361211,190,600 - 211,230,875 (+)NCBI Archive
Celera1186,345,429 - 186,386,460 (+)RGD
HuRef1183,798,827 - 183,839,870 (+)ENTREZGENE
CHM1_11214,396,192 - 214,437,251 (+)NCBI
T2T-CHM13v2.01212,193,644 - 212,234,694 (+)NCBI
Sequence:
RefSeq Acc Id: NP_079025   ⟸   NM_024749
- Peptide Label: isoform 1
- UniProtKB: Q86V25 (UniProtKB/Swiss-Prot),   A8K4K8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129946   ⟸   NM_001136474
- Peptide Label: isoform 2
- UniProtKB: A0A140VJZ5 (UniProtKB/TrEMBL),   A8K4K8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129947   ⟸   NM_001136475
- Peptide Label: isoform 3
- UniProtKB: A8K4K8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287985   ⟸   NM_001301056
- Peptide Label: isoform 4
- UniProtKB: Q86V25 (UniProtKB/Swiss-Prot),   Q8IZ24 (UniProtKB/Swiss-Prot),   Q7Z6E3 (UniProtKB/Swiss-Prot),   Q5VTE9 (UniProtKB/Swiss-Prot),   Q5VTE7 (UniProtKB/Swiss-Prot),   Q2VT46 (UniProtKB/Swiss-Prot),   B4DYZ5 (UniProtKB/Swiss-Prot),   Q9H9W5 (UniProtKB/Swiss-Prot),   A8K4K8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000428324   ⟸   ENST00000517399
Ensembl Acc Id: ENSP00000419918   ⟸   ENST00000490792
Ensembl Acc Id: ENSP00000429040   ⟸   ENST00000366967
Ensembl Acc Id: ENSP00000430319   ⟸   ENST00000366966
Ensembl Acc Id: ENSP00000355935   ⟸   ENST00000366968
Ensembl Acc Id: ENSP00000355932   ⟸   ENST00000366965
Ensembl Acc Id: ENSP00000355931   ⟸   ENST00000366964

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86V25-F1-model_v2 AlphaFold Q86V25 1-355 view protein structure

Promoters
RGD ID:6785605
Promoter ID:HG_KWN:7278
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000366964,   ENST00000366965,   ENST00000366966,   ENST00000366967,   ENST00000366969,   NM_001136475,   OTTHUMT00000089682,   UC001HJU.1,   UC001HJV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361211,190,341 - 211,190,841 (+)MPROMDB
RGD ID:6785270
Promoter ID:HG_KWN:7279
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:ENST00000343712,   OTTHUMT00000089689,   UC001HJY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361211,190,371 - 211,191,757 (+)MPROMDB
RGD ID:6787208
Promoter ID:HG_KWN:7280
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000089688
Position:
Human AssemblyChrPosition (strand)Source
Build 361211,200,786 - 211,201,286 (+)MPROMDB
RGD ID:6858956
Promoter ID:EPDNEW_H2643
Type:initiation region
Name:VASH2_1
Description:vasohibin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2644  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,950,594 - 212,950,654EPDNEW
RGD ID:6858958
Promoter ID:EPDNEW_H2644
Type:initiation region
Name:VASH2_2
Description:vasohibin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2643  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381212,951,446 - 212,951,506EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25723 AgrOrtholog
COSMIC VASH2 COSMIC
Ensembl Genes ENSG00000143494 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000366964.7 UniProtKB/Swiss-Prot
  ENST00000366965 ENTREZGENE
  ENST00000366965.6 UniProtKB/Swiss-Prot
  ENST00000366966.6 UniProtKB/Swiss-Prot
  ENST00000366967 ENTREZGENE
  ENST00000366967.6 UniProtKB/Swiss-Prot
  ENST00000366968 ENTREZGENE
  ENST00000366968.8 UniProtKB/Swiss-Prot
  ENST00000490792.1 UniProtKB/TrEMBL
  ENST00000517399 ENTREZGENE
  ENST00000517399.3 UniProtKB/Swiss-Prot
GTEx ENSG00000143494 GTEx
HGNC ID HGNC:25723 ENTREZGENE
Human Proteome Map VASH2 Human Proteome Map
InterPro VASH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79805 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79805 ENTREZGENE
OMIM 610471 OMIM
PANTHER PTHR15750 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULINYL-TYR CARBOXYPEPTIDASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Vasohibin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145147736 PharmGKB
UniProt A0A140VJZ5 ENTREZGENE, UniProtKB/TrEMBL
  A8K4K8 ENTREZGENE, UniProtKB/TrEMBL
  B4DYZ5 ENTREZGENE
  C9JY36_HUMAN UniProtKB/TrEMBL
  Q2VT46 ENTREZGENE
  Q5VTE7 ENTREZGENE
  Q5VTE9 ENTREZGENE
  Q7Z6E3 ENTREZGENE
  Q86V25 ENTREZGENE
  Q8IZ24 ENTREZGENE
  Q9H9W5 ENTREZGENE
  VASH2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DYZ5 UniProtKB/Swiss-Prot
  Q2VT46 UniProtKB/Swiss-Prot
  Q5VTE7 UniProtKB/Swiss-Prot
  Q5VTE9 UniProtKB/Swiss-Prot
  Q7Z6E3 UniProtKB/Swiss-Prot
  Q8IZ24 UniProtKB/Swiss-Prot
  Q9H9W5 UniProtKB/Swiss-Prot