NOSTRIN (nitric oxide synthase trafficking) - Rat Genome Database

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Gene: NOSTRIN (nitric oxide synthase trafficking) Homo sapiens
Analyze
Symbol: NOSTRIN
Name: nitric oxide synthase trafficking
RGD ID: 1348478
HGNC Page HGNC:20203
Description: Predicted to enable DNA binding activity. Predicted to be involved in actin filament organization and cell migration. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Predicted to be located in endocytic vesicle membrane and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BM247 homolog; DaIP2; endothelial nitric oxide synthase traffic inducer; ENOS traffic inducer; eNOS-trafficking inducer; MGC20702; nitric oxide synthase traffic inducer; nitric oxide synthase trafficker; ortholog of mouse disabled 2 interacting proein 2
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
GRCh382168,786,539 - 168,865,514 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2168,786,539 - 168,865,514 (+)EnsemblGRCh38hg38GRCh38
GRCh372169,643,049 - 169,722,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362169,367,353 - 169,429,811 (+)NCBINCBI36Build 36hg18NCBI36
Build 342169,484,613 - 169,547,071NCBI
Celera2163,251,347 - 163,330,165 (+)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2161,522,046 - 161,600,873 (+)NCBIHuRef
CHM1_12169,648,846 - 169,727,653 (+)NCBICHM1_1
T2T-CHM13v2.02169,244,017 - 169,322,990 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Stroke  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Altered gene expression in cerebral capillaries of stroke-prone spontaneously hypertensive rats. Kirsch T, etal., Brain Res 2001 Aug 10;910(1-2):106-15.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12446846   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15596140   PMID:16234328   PMID:16722822   PMID:16807357   PMID:18980613   PMID:19399414   PMID:19401682   PMID:20379614  
PMID:20442744   PMID:20936779   PMID:21183735   PMID:21351530   PMID:21873635   PMID:22751148   PMID:23414517   PMID:23455924   PMID:23592143   PMID:24588201   PMID:25240745   PMID:27401251  
PMID:28981819   PMID:29987050   PMID:30652415   PMID:30745168   PMID:32296183   PMID:35642021   PMID:36244648  


Genomics

Comparative Map Data
NOSTRIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382168,786,539 - 168,865,514 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2168,786,539 - 168,865,514 (+)EnsemblGRCh38hg38GRCh38
GRCh372169,643,049 - 169,722,024 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362169,367,353 - 169,429,811 (+)NCBINCBI36Build 36hg18NCBI36
Build 342169,484,613 - 169,547,071NCBI
Celera2163,251,347 - 163,330,165 (+)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2161,522,046 - 161,600,873 (+)NCBIHuRef
CHM1_12169,648,846 - 169,727,653 (+)NCBICHM1_1
T2T-CHM13v2.02169,244,017 - 169,322,990 (+)NCBIT2T-CHM13v2.0
Nostrin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39268,966,144 - 69,019,674 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl268,966,144 - 69,019,674 (+)EnsemblGRCm39 Ensembl
GRCm38269,135,800 - 69,189,330 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl269,135,800 - 69,189,330 (+)EnsemblGRCm38mm10GRCm38
MGSCv37268,973,857 - 69,027,387 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36268,936,686 - 68,990,165 (+)NCBIMGSCv36mm8
Celera270,801,550 - 70,855,078 (+)NCBICelera
Cytogenetic Map2C2NCBI
cM Map239.58NCBI
Nostrin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8374,312,594 - 74,378,852 (+)NCBIGRCr8
mRatBN7.2353,904,746 - 53,970,995 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl353,904,827 - 53,970,988 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx357,305,503 - 57,371,613 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0365,889,063 - 65,955,169 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0363,650,971 - 63,717,148 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0355,369,282 - 55,433,840 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl355,369,214 - 55,433,843 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0361,980,713 - 62,045,306 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4351,285,541 - 51,356,886 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1351,192,062 - 51,213,502 (+)NCBI
Celera353,467,565 - 53,533,091 (+)NCBICelera
Cytogenetic Map3q21NCBI
Nostrin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554495,563,763 - 5,620,188 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554495,563,212 - 5,620,337 (-)NCBIChiLan1.0ChiLan1.0
NOSTRIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21371,431,273 - 71,510,145 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B71,446,247 - 71,525,118 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B56,064,199 - 56,126,759 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B173,515,475 - 173,592,156 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B173,516,771 - 173,592,692 (+)Ensemblpanpan1.1panPan2
NOSTRIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13613,626,599 - 13,682,961 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3613,626,472 - 13,682,960 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3613,637,738 - 13,693,992 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03613,742,827 - 13,799,060 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3613,742,715 - 13,799,060 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13613,827,961 - 13,884,118 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03613,814,933 - 13,871,232 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03613,928,339 - 13,984,817 (+)NCBIUU_Cfam_GSD_1.0
Nostrin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303130,899,410 - 130,958,187 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646910,659,510 - 10,716,392 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646910,659,533 - 10,716,301 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOSTRIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1575,283,925 - 75,346,894 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11575,283,897 - 75,346,901 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21584,388,906 - 84,450,460 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NOSTRIN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11054,324,452 - 54,390,101 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1054,324,454 - 54,391,688 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040145,140,103 - 145,204,953 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nostrin
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247876,540,159 - 6,604,510 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247876,540,639 - 6,604,034 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NOSTRIN
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
NM_001039724.3(NOSTRIN):c.631-2907T>C single nucleotide variant Lung cancer [RCV000087760] Chr2:168848177 [GRCh38]
Chr2:169704687 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.3(NOSTRIN):c.1385-658C>G single nucleotide variant Lung cancer [RCV000087761] Chr2:168864176 [GRCh38]
Chr2:169720686 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q24.3(chr2:167995450-168840081)x3 copy number gain See cases [RCV000142874] Chr2:167995450..168840081 [GRCh38]
Chr2:168851960..169696591 [GRCh37]
Chr2:168560206..169404837 [NCBI36]
Chr2:2q24.3
likely benign
GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1 copy number loss See cases [RCV000167568] Chr2:167996718..170671886 [GRCh37]
Chr2:2q24.3-31.1
likely pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1 copy number loss See cases [RCV000511973] Chr2:166374955..169671203 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 copy number loss not provided [RCV000585557] Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_001039724.4(NOSTRIN):c.73G>A (p.Glu25Lys) single nucleotide variant not provided [RCV000894714] Chr2:168811612 [GRCh38]
Chr2:169668122 [GRCh37]
Chr2:2q24.3
likely benign
NM_001039724.4(NOSTRIN):c.1292C>T (p.Pro431Leu) single nucleotide variant not provided [RCV000965619] Chr2:168860907 [GRCh38]
Chr2:169717417 [GRCh37]
Chr2:2q24.3
benign
NM_001039724.4(NOSTRIN):c.1210C>T (p.Arg404Trp) single nucleotide variant not provided [RCV000973016]|not specified [RCV004029968] Chr2:168860825 [GRCh38]
Chr2:169717335 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_001039724.4(NOSTRIN):c.500G>A (p.Arg167Gln) single nucleotide variant not provided [RCV000946644] Chr2:168834321 [GRCh38]
Chr2:169690831 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 copy number loss 2q24 microdeletion syndrome [RCV002271993] Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1
pathogenic
NM_001039724.4(NOSTRIN):c.1141C>T (p.His381Tyr) single nucleotide variant not specified [RCV004139765] Chr2:168859599 [GRCh38]
Chr2:169716109 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.779A>T (p.Asp260Val) single nucleotide variant not specified [RCV004197022] Chr2:168851328 [GRCh38]
Chr2:169707838 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.1333G>T (p.Ala445Ser) single nucleotide variant not specified [RCV004207321] Chr2:168861998 [GRCh38]
Chr2:169718508 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.737C>T (p.Thr246Met) single nucleotide variant not specified [RCV004232026] Chr2:168851286 [GRCh38]
Chr2:169707796 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
NM_001039724.4(NOSTRIN):c.1032C>G (p.Asp344Glu) single nucleotide variant not specified [RCV004214021] Chr2:168856757 [GRCh38]
Chr2:169713267 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.1405G>A (p.Glu469Lys) single nucleotide variant not specified [RCV004106946] Chr2:168864854 [GRCh38]
Chr2:169721364 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.818C>T (p.Thr273Ile) single nucleotide variant not specified [RCV004185917] Chr2:168851367 [GRCh38]
Chr2:169707877 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.1306G>A (p.Ala436Thr) single nucleotide variant not specified [RCV004221417] Chr2:168861971 [GRCh38]
Chr2:169718481 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.1159A>G (p.Ile387Val) single nucleotide variant not specified [RCV004084188] Chr2:168859617 [GRCh38]
Chr2:169716127 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1 copy number loss not specified [RCV003986391] Chr2:165813403..169865235 [GRCh37]
Chr2:2q24.3-31.1
pathogenic
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1 copy number loss not specified [RCV003986346] Chr2:162692199..174452488 [GRCh37]
Chr2:2q24.2-31.1
pathogenic
NM_001039724.4(NOSTRIN):c.1207T>A (p.Ser403Thr) single nucleotide variant not specified [RCV004488212] Chr2:168860822 [GRCh38]
Chr2:169717332 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.1045A>G (p.Met349Val) single nucleotide variant not specified [RCV004488211] Chr2:168856770 [GRCh38]
Chr2:169713280 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.977T>C (p.Met326Thr) single nucleotide variant not specified [RCV004178094] Chr2:168856702 [GRCh38]
Chr2:169713212 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.731G>A (p.Cys244Tyr) single nucleotide variant not specified [RCV004130764] Chr2:168851280 [GRCh38]
Chr2:169707790 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_001039724.4(NOSTRIN):c.773A>G (p.Glu258Gly) single nucleotide variant not specified [RCV004488214] Chr2:168851322 [GRCh38]
Chr2:169707832 [GRCh37]
Chr2:2q24.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1578
Count of miRNA genes:770
Interacting mature miRNAs:885
Transcripts:ENST00000317647, ENST00000397206, ENST00000397209, ENST00000421711, ENST00000427068, ENST00000439509, ENST00000444448, ENST00000445023, ENST00000447264, ENST00000458381, ENST00000471833, ENST00000472260, ENST00000486873, ENST00000495202
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.

Markers in Region
D2S1776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,645,211 - 169,645,507UniSTSGRCh37
Build 362169,353,457 - 169,353,753RGDNCBI36
Celera2163,253,506 - 163,253,795RGD
Cytogenetic Map2q24UniSTS
Cytogenetic Map2q31.1UniSTS
HuRef2161,524,205 - 161,524,497UniSTS
Marshfield Genetic Map2173.0UniSTS
Marshfield Genetic Map2173.0RGD
Stanford-G3 RH Map26839.0UniSTS
Whitehead-RH Map2890.7UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21314.1UniSTS
D2S1372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,645,356 - 169,645,492UniSTSGRCh37
Build 362169,353,602 - 169,353,738RGDNCBI36
Celera2163,253,651 - 163,253,780RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,524,350 - 161,524,482UniSTS
Whitehead-RH Map2891.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,721,341 - 169,721,477UniSTSGRCh37
Build 362169,429,587 - 169,429,723RGDNCBI36
Celera2163,329,657 - 163,329,793RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,600,365 - 161,600,501UniSTS
Stanford-G3 RH Map26850.0UniSTS
NCBI RH Map21319.2UniSTS
GeneMap99-G3 RH Map27705.0UniSTS
RH94201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,702,787 - 169,702,971UniSTSGRCh37
Build 362169,411,033 - 169,411,217RGDNCBI36
Celera2163,311,108 - 163,311,292RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,581,816 - 161,582,000UniSTS
GeneMap99-GB4 RH Map2554.03UniSTS
RH122906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,719,631 - 169,719,954UniSTSGRCh37
Build 362169,427,877 - 169,428,200RGDNCBI36
Celera2163,327,953 - 163,328,276RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,598,661 - 161,598,984UniSTS
TNG Radiation Hybrid Map293468.0UniSTS
SHGC-132253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,645,196 - 169,645,503UniSTSGRCh37
Build 362169,353,442 - 169,353,749RGDNCBI36
Celera2163,253,491 - 163,253,791RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,524,190 - 161,524,493UniSTS
TNG Radiation Hybrid Map293448.0UniSTS
RH18467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,673,093 - 169,673,191UniSTSGRCh37
Build 362169,381,339 - 169,381,437RGDNCBI36
Celera2163,281,401 - 163,281,499RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,552,102 - 161,552,200UniSTS
GeneMap99-GB4 RH Map2554.03UniSTS
D2S2632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,683,560 - 169,683,738UniSTSGRCh37
Build 362169,391,806 - 169,391,984RGDNCBI36
Celera2163,291,885 - 163,292,063RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,562,587 - 161,562,765UniSTS
Whitehead-RH Map2840.9UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21313.8UniSTS


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 renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1052 419 778 148 151 12 1582 305 554 221 1017 1177 136 1173 807 3 2
Low 1377 1779 928 465 820 442 2692 1850 3132 174 406 374 36 1 31 1944 3
Below cutoff 5 720 15 10 845 10 75 28 42 17 33 48 2 36

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001039724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC208170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ532842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF114987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP334580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ899074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ402497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW437437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000317647   ⟹   ENSP00000318921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,802,637 - 168,865,514 (+)Ensembl
RefSeq Acc Id: ENST00000397206   ⟹   ENSP00000380390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,802,636 - 168,864,970 (+)Ensembl
RefSeq Acc Id: ENST00000397209   ⟹   ENSP00000380392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,802,647 - 168,864,970 (+)Ensembl
RefSeq Acc Id: ENST00000427068   ⟹   ENSP00000388597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,855,422 - 168,859,533 (+)Ensembl
RefSeq Acc Id: ENST00000439509   ⟹   ENSP00000415337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,802,592 - 168,831,533 (+)Ensembl
RefSeq Acc Id: ENST00000444448   ⟹   ENSP00000394051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,798,151 - 168,865,339 (+)Ensembl
RefSeq Acc Id: ENST00000445023   ⟹   ENSP00000404413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,802,597 - 168,865,054 (+)Ensembl
RefSeq Acc Id: ENST00000447264   ⟹   ENSP00000390383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,811,334 - 168,851,182 (+)Ensembl
RefSeq Acc Id: ENST00000458381   ⟹   ENSP00000402140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,786,539 - 168,865,055 (+)Ensembl
RefSeq Acc Id: ENST00000471833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,802,639 - 168,812,084 (+)Ensembl
RefSeq Acc Id: ENST00000472260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,855,686 - 168,865,054 (+)Ensembl
RefSeq Acc Id: ENST00000486873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,843,052 - 168,855,654 (+)Ensembl
RefSeq Acc Id: ENST00000495202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2168,859,109 - 168,860,838 (+)Ensembl
RefSeq Acc Id: NM_001039724   ⟹   NP_001034813
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,865,514 (+)NCBI
GRCh372169,643,049 - 169,721,849 (+)ENTREZGENE
Build 362169,367,399 - 169,429,807 (+)NCBI Archive
HuRef2161,522,046 - 161,600,873 (+)ENTREZGENE
CHM1_12169,664,907 - 169,727,653 (+)NCBI
T2T-CHM13v2.02169,260,117 - 169,322,990 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171631   ⟹   NP_001165102
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,786,539 - 168,865,514 (+)NCBI
GRCh372169,643,049 - 169,721,849 (+)ENTREZGENE
HuRef2161,522,046 - 161,600,873 (+)ENTREZGENE
CHM1_12169,648,846 - 169,727,653 (+)NCBI
T2T-CHM13v2.02169,244,017 - 169,322,990 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171632   ⟹   NP_001165103
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,865,514 (+)NCBI
GRCh372169,643,049 - 169,721,849 (+)ENTREZGENE
HuRef2161,522,046 - 161,600,873 (+)ENTREZGENE
CHM1_12169,664,907 - 169,727,653 (+)NCBI
T2T-CHM13v2.02169,260,117 - 169,322,990 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052946   ⟹   NP_443178
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,865,514 (+)NCBI
GRCh372169,643,049 - 169,721,849 (+)ENTREZGENE
Build 362169,367,353 - 169,429,811 (+)NCBI Archive
HuRef2161,522,046 - 161,600,873 (+)ENTREZGENE
CHM1_12169,664,914 - 169,727,653 (+)NCBI
T2T-CHM13v2.02169,260,117 - 169,322,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246270   ⟹   XP_005246327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,865,514 (+)NCBI
GRCh372169,643,049 - 169,721,849 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712233   ⟹   XP_006712296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,863,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510540   ⟹   XP_011508842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,863,440 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510543   ⟹   XP_011508845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,846,861 - 168,865,514 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003278   ⟹   XP_016858767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,863,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003279   ⟹   XP_016858768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,824,634 - 168,865,514 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452662   ⟹   XP_024308430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,865,514 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443189   ⟹   XP_047299145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,846,843 - 168,865,514 (+)NCBI
RefSeq Acc Id: XM_054340405   ⟹   XP_054196380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,260,117 - 169,322,990 (+)NCBI
RefSeq Acc Id: XM_054340406   ⟹   XP_054196381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,260,117 - 169,322,370 (+)NCBI
RefSeq Acc Id: XM_054340407   ⟹   XP_054196382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,260,117 - 169,320,946 (+)NCBI
RefSeq Acc Id: XM_054340408   ⟹   XP_054196383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,260,117 - 169,322,370 (+)NCBI
RefSeq Acc Id: XM_054340409   ⟹   XP_054196384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,260,117 - 169,322,990 (+)NCBI
RefSeq Acc Id: XM_054340410   ⟹   XP_054196385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,282,114 - 169,322,990 (+)NCBI
RefSeq Acc Id: XM_054340411   ⟹   XP_054196386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,304,349 - 169,322,990 (+)NCBI
RefSeq Acc Id: XM_054340412   ⟹   XP_054196387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,304,331 - 169,322,990 (+)NCBI
RefSeq Acc Id: XR_007069110
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,856,776 (+)NCBI
RefSeq Acc Id: XR_008486259
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,260,117 - 169,314,266 (+)NCBI
RefSeq Acc Id: XR_008486260
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02169,260,117 - 169,314,185 (+)NCBI
RefSeq Acc Id: XR_922836
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,856,695 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001034813 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165102 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165103 (Get FASTA)   NCBI Sequence Viewer  
  NP_443178 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246327 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712296 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508842 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508845 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858767 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858768 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308430 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196380 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196381 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196382 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196383 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196384 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196385 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196387 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14189 (Get FASTA)   NCBI Sequence Viewer  
  AAH93072 (Get FASTA)   NCBI Sequence Viewer  
  AAX93055 (Get FASTA)   NCBI Sequence Viewer  
  AAY24097 (Get FASTA)   NCBI Sequence Viewer  
  ABD62889 (Get FASTA)   NCBI Sequence Viewer  
  BAE46614 (Get FASTA)   NCBI Sequence Viewer  
  BAF82943 (Get FASTA)   NCBI Sequence Viewer  
  BAG52717 (Get FASTA)   NCBI Sequence Viewer  
  CAD58724 (Get FASTA)   NCBI Sequence Viewer  
  EAX11292 (Get FASTA)   NCBI Sequence Viewer  
  EAX11293 (Get FASTA)   NCBI Sequence Viewer  
  EAX11294 (Get FASTA)   NCBI Sequence Viewer  
  EAX11295 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318921
  ENSP00000318921.7
  ENSP00000380390.2
  ENSP00000380392
  ENSP00000380392.2
  ENSP00000388597.1
  ENSP00000390383.2
  ENSP00000394051.2
  ENSP00000402140
  ENSP00000402140.2
  ENSP00000404413
  ENSP00000404413.2
  ENSP00000415337.1
  ENSP00000478446.1
  ENSP00000478690.1
  ENSP00000480854.1
  ENSP00000481062.1
  ENSP00000481671.1
  ENSP00000483177.1
  ENSP00000484358.1
  ENSP00000484418.1
GenBank Protein Q8IVI9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001165102   ⟸   NM_001171631
- Peptide Label: isoform 4
- UniProtKB: Q8IVI9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001034813   ⟸   NM_001039724
- Peptide Label: isoform 2
- UniProtKB: Q53S62 (UniProtKB/Swiss-Prot),   Q27HG3 (UniProtKB/Swiss-Prot),   E7EPT9 (UniProtKB/Swiss-Prot),   B3KSF5 (UniProtKB/Swiss-Prot),   A8K2I9 (UniProtKB/Swiss-Prot),   Q96CJ9 (UniProtKB/Swiss-Prot),   Q8IVI9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165103   ⟸   NM_001171632
- Peptide Label: isoform 3
- UniProtKB: A0A0G2JM79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_443178   ⟸   NM_052946
- Peptide Label: isoform 1
- UniProtKB: A0A0G2JM79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246327   ⟸   XM_005246270
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006712296   ⟸   XM_006712233
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011508842   ⟸   XM_011510540
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011508845   ⟸   XM_011510543
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016858767   ⟸   XM_017003278
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016858768   ⟸   XM_017003279
- Peptide Label: isoform X6
- UniProtKB: A0A0G2JPW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308430   ⟸   XM_024452662
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000415337   ⟸   ENST00000439509
RefSeq Acc Id: ENSP00000388597   ⟸   ENST00000427068
RefSeq Acc Id: ENSP00000394051   ⟸   ENST00000444448
RefSeq Acc Id: ENSP00000402140   ⟸   ENST00000458381
RefSeq Acc Id: ENSP00000404413   ⟸   ENST00000445023
RefSeq Acc Id: ENSP00000390383   ⟸   ENST00000447264
RefSeq Acc Id: ENSP00000318921   ⟸   ENST00000317647
RefSeq Acc Id: ENSP00000380392   ⟸   ENST00000397209
RefSeq Acc Id: ENSP00000380390   ⟸   ENST00000397206
RefSeq Acc Id: XP_047299145   ⟸   XM_047443189
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054196380   ⟸   XM_054340405
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196384   ⟸   XM_054340409
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054196381   ⟸   XM_054340406
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054196383   ⟸   XM_054340408
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054196382   ⟸   XM_054340407
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054196385   ⟸   XM_054340410
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054196387   ⟸   XM_054340412
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054196386   ⟸   XM_054340411
- Peptide Label: isoform X7
Protein Domains
F-BAR   REM-1   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IVI9-F1-model_v2 AlphaFold Q8IVI9 1-506 view protein structure

Promoters
RGD ID:6861940
Promoter ID:EPDNEW_H4135
Type:initiation region
Name:NOSTRIN_1
Description:nitric oxide synthase trafficking
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382168,802,637 - 168,802,697EPDNEW
RGD ID:6797879
Promoter ID:HG_KWN:35766
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000333416,   OTTHUMT00000333419,   OTTHUMT00000338584,   UC002UEG.1,   UC002UEH.1,   UC002UEI.1,   UC010FPU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362169,367,154 - 169,367,654 (+)MPROMDB
RGD ID:6797878
Promoter ID:HG_KWN:35769
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000333421,   UC002UEK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362169,419,266 - 169,419,766 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20203 AgrOrtholog
COSMIC NOSTRIN COSMIC
Ensembl Genes ENSG00000163072 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275326 UniProtKB/TrEMBL
Ensembl Transcript ENST00000317647 ENTREZGENE
  ENST00000317647.12 UniProtKB/Swiss-Prot
  ENST00000397206.6 UniProtKB/Swiss-Prot
  ENST00000397209 ENTREZGENE
  ENST00000397209.6 UniProtKB/Swiss-Prot
  ENST00000427068.1 UniProtKB/TrEMBL
  ENST00000439509.5 UniProtKB/TrEMBL
  ENST00000444448.6 UniProtKB/Swiss-Prot
  ENST00000445023 ENTREZGENE
  ENST00000445023.6 UniProtKB/Swiss-Prot
  ENST00000447264.2 UniProtKB/TrEMBL
  ENST00000458381 ENTREZGENE
  ENST00000458381.6 UniProtKB/Swiss-Prot
  ENST00000610364.4 UniProtKB/TrEMBL
  ENST00000610378.4 UniProtKB/TrEMBL
  ENST00000611498.4 UniProtKB/TrEMBL
  ENST00000613802.1 UniProtKB/TrEMBL
  ENST00000614842.4 UniProtKB/TrEMBL
  ENST00000618893.1 UniProtKB/TrEMBL
  ENST00000619846.4 UniProtKB/TrEMBL
  ENST00000620516.4 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.470 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163072 GTEx
  ENSG00000275326 GTEx
HGNC ID HGNC:20203 ENTREZGENE
Human Proteome Map NOSTRIN Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FCH_dom UniProtKB/Swiss-Prot
  HR1_rho-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HR1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nostrin_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:115677 UniProtKB/Swiss-Prot
NCBI Gene 115677 ENTREZGENE
OMIM 607496 OMIM
PANTHER NOSTRIN UniProtKB/TrEMBL
  NOSTRIN, ISOFORM H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROLINE-SERINE-THREONINE PHOSPHATASE INTERACTING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 DOMAIN-CONTAINING UniProtKB/TrEMBL
Pfam FCH UniProtKB/Swiss-Prot
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134992787 PharmGKB
PRINTS SH3DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE F_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46585 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JM79 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JNL9_HUMAN UniProtKB/TrEMBL
  A0A0G2JPW3 ENTREZGENE, UniProtKB/TrEMBL
  A8K2I9 ENTREZGENE
  B3KSF5 ENTREZGENE
  E7EPT9 ENTREZGENE
  E9PDM0_HUMAN UniProtKB/TrEMBL
  F8WCW8_HUMAN UniProtKB/TrEMBL
  H7BZA6_HUMAN UniProtKB/TrEMBL
  NOSTN_HUMAN UniProtKB/Swiss-Prot
  Q27HG3 ENTREZGENE
  Q53S62 ENTREZGENE
  Q53TH8_HUMAN UniProtKB/TrEMBL
  Q8IVI9 ENTREZGENE
  Q96CJ9 ENTREZGENE
UniProt Secondary A8K2I9 UniProtKB/Swiss-Prot
  B3KSF5 UniProtKB/Swiss-Prot
  E7EPT9 UniProtKB/Swiss-Prot
  Q27HG3 UniProtKB/Swiss-Prot
  Q53S62 UniProtKB/Swiss-Prot
  Q96CJ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-13 NOSTRIN  nitric oxide synthase trafficking  NOSTRIN  nitric oxide synthase trafficker  Symbol and/or name change 5135510 APPROVED