NRSN2 (neurensin 2) - Rat Genome Database

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Gene: NRSN2 (neurensin 2) Homo sapiens
Analyze
Symbol: NRSN2
Name: neurensin 2
RGD ID: 1313267
HGNC Page HGNC:16229
Description: Predicted to be involved in nervous system development. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C20orf98; chromosome 20 open reading frame 98; dJ1103G7.6; FLJ23329; neurensin-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
GRCh3820347,111 - 354,862 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20346,782 - 359,660 (+)EnsemblGRCh38hg38GRCh38
GRCh3720327,755 - 335,506 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3620275,775 - 283,505 (+)NCBINCBI36Build 36hg18NCBI36
Build 3420277,892 - 283,506NCBI
Celera20422,220 - 430,358 (+)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20278,975 - 287,113 (+)NCBIHuRef
CHM1_120327,343 - 335,486 (+)NCBICHM1_1
T2T-CHM13v2.020390,459 - 398,227 (+)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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:11780052   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15489336   PMID:16169070   PMID:16344560   PMID:16381901  
PMID:16527258   PMID:19824122   PMID:21873635   PMID:24019301   PMID:26045763   PMID:26055238   PMID:26186194   PMID:27908706   PMID:28514442   PMID:31073040   PMID:32296183   PMID:33845483  
PMID:33961781   PMID:35662041   PMID:36610398   PMID:37365792   PMID:38457049  


Genomics

Comparative Map Data
NRSN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820347,111 - 354,862 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20346,782 - 359,660 (+)EnsemblGRCh38hg38GRCh38
GRCh3720327,755 - 335,506 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3620275,775 - 283,505 (+)NCBINCBI36Build 36hg18NCBI36
Build 3420277,892 - 283,506NCBI
Celera20422,220 - 430,358 (+)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20278,975 - 287,113 (+)NCBIHuRef
CHM1_120327,343 - 335,486 (+)NCBICHM1_1
T2T-CHM13v2.020390,459 - 398,227 (+)NCBIT2T-CHM13v2.0
Nrsn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392152,210,675 - 152,218,560 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2152,210,675 - 152,218,558 (-)EnsemblGRCm39 Ensembl
GRCm382152,368,755 - 152,376,625 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2152,368,755 - 152,376,638 (-)EnsemblGRCm38mm10GRCm38
MGSCv372152,194,494 - 152,202,302 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362152,060,199 - 152,068,007 (-)NCBIMGSCv36mm8
Celera2158,182,828 - 158,190,641 (-)NCBICelera
Cytogenetic Map2G3NCBI
cM Map274.89NCBI
Nrsn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83161,299,116 - 161,307,947 (-)NCBIGRCr8
mRatBN7.23140,838,813 - 140,847,291 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3140,838,814 - 140,847,297 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3144,743,971 - 144,752,464 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03153,327,816 - 153,336,310 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03151,067,881 - 151,076,237 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03147,843,077 - 147,856,473 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3147,843,077 - 147,851,768 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03154,190,943 - 154,199,634 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43142,692,988 - 142,702,131 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3139,590,410 - 139,598,937 (-)NCBICelera
Cytogenetic Map3q41NCBI
Nrsn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955597236,467 - 245,480 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955597236,247 - 241,754 (+)NCBIChiLan1.0ChiLan1.0
NRSN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2211,435,899 - 1,444,076 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1201,432,728 - 1,440,903 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v020555,825 - 563,819 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.120326,347 - 333,948 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl20326,879 - 338,410 (+)Ensemblpanpan1.1panPan2
NRSN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12420,492,095 - 20,504,827 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2420,493,351 - 20,496,083 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2420,145,750 - 20,158,459 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02421,185,048 - 21,197,757 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2421,185,052 - 21,197,722 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12420,460,571 - 20,473,283 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02420,566,525 - 20,579,235 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02420,997,088 - 21,009,797 (-)NCBIUU_Cfam_GSD_1.0
Nrsn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640169,672,718 - 169,679,003 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648518,103,931 - 18,110,809 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648518,104,082 - 18,110,321 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRSN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1734,838,077 - 34,844,498 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11734,838,076 - 34,844,505 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21739,619,040 - 39,625,462 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NRSN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1235,479,290 - 35,486,362 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl235,479,347 - 35,487,012 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660787,652,528 - 7,660,184 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nrsn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247411,450,440 - 1,452,947 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247411,448,022 - 1,453,930 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NRSN2
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13(chr20:89939-1360110)x1 copy number loss See cases [RCV000050841] Chr20:89939..1360110 [GRCh38]
Chr20:70580..1340754 [GRCh37]
Chr20:18580..1288754 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1028206)x3 copy number gain See cases [RCV000050986] Chr20:89939..1028206 [GRCh38]
Chr20:70580..1008849 [GRCh37]
Chr20:18580..956849 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000050373] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:89939-975656)x1 copy number loss See cases [RCV000052733] Chr20:89939..975656 [GRCh38]
Chr20:70580..956299 [GRCh37]
Chr20:18580..904299 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1939218)x1 copy number loss See cases [RCV000052735] Chr20:89939..1939218 [GRCh38]
Chr20:70580..1919864 [GRCh37]
Chr20:18580..1867864 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1770567)x1 copy number loss See cases [RCV000052736] Chr20:89939..1770567 [GRCh38]
Chr20:70580..1751213 [GRCh37]
Chr20:18580..1699213 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1668795)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|See cases [RCV000052737] Chr20:89939..1668795 [GRCh38]
Chr20:70580..1649441 [GRCh37]
Chr20:18580..1597441 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:121781-2290194)x1 copy number loss See cases [RCV000052738] Chr20:121781..2290194 [GRCh38]
Chr20:102422..2270840 [GRCh37]
Chr20:50422..2218840 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13(chr20:71023-2129746)x1 copy number loss See cases [RCV000184090] Chr20:71023..2129746 [GRCh37]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1494113)x1 copy number loss See cases [RCV000135804] Chr20:89939..1494113 [GRCh38]
Chr20:70580..1474759 [GRCh37]
Chr20:18580..1422759 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1246891)x3 copy number gain See cases [RCV000135794] Chr20:89939..1246891 [GRCh38]
Chr20:70580..1227535 [GRCh37]
Chr20:18580..1175535 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13(chr20:89939-364235)x1 copy number loss See cases [RCV000135411] Chr20:89939..364235 [GRCh38]
Chr20:70580..344879 [GRCh37]
Chr20:18580..292879 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13(chr20:80093-1246766)x1 copy number loss See cases [RCV000139403] Chr20:80093..1246766 [GRCh38]
Chr20:60734..1227410 [GRCh37]
Chr20:8734..1175410 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:80106-702368)x3 copy number gain See cases [RCV000138961] Chr20:80106..702368 [GRCh38]
Chr20:60747..683012 [GRCh37]
Chr20:8747..631012 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13(chr20:102451-458699)x3 copy number gain See cases [RCV000139811] Chr20:102451..458699 [GRCh38]
Chr20:83092..439343 [GRCh37]
Chr20:31092..387343 [NCBI36]
Chr20:20p13		 likely benign
GRCh38/hg38 20p13(chr20:295139-500987)x1 copy number loss See cases [RCV000139764] Chr20:295139..500987 [GRCh38]
Chr20:275780..481631 [GRCh37]
Chr20:223780..429631 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13(chr20:209424-1852477)x3 copy number gain See cases [RCV000140876] Chr20:209424..1852477 [GRCh38]
Chr20:190065..1833123 [GRCh37]
Chr20:138065..1781123 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13(chr20:80106-1246891)x1 copy number loss See cases [RCV000142919] Chr20:80106..1246891 [GRCh38]
Chr20:60747..1227535 [GRCh37]
Chr20:8747..1175535 [NCBI36]
Chr20:20p13		 likely pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:80927-1806080)x1 copy number loss See cases [RCV000143700] Chr20:80927..1806080 [GRCh38]
Chr20:61568..1786726 [GRCh37]
Chr20:9568..1734726 [NCBI36]
Chr20:20p13		 likely pathogenic|uncertain significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000148279] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:241301-584723)x3 copy number gain See cases [RCV000240241] Chr20:241301..584723 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540)x1 copy number loss See cases [RCV000446902] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:121521-2073612)x1 copy number loss See cases [RCV000446640] Chr20:121521..2073612 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-806878)x1 copy number loss See cases [RCV000447172] Chr20:61568..806878 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-1513319)x1 copy number loss See cases [RCV000445920] Chr20:61568..1513319 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1651420)x1 copy number loss See cases [RCV000510423] Chr20:61568..1651420 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3 copy number gain See cases [RCV000511991] Chr20:61568..2824960 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-619400)x1 copy number loss See cases [RCV000510887] Chr20:61568..619400 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-431502)x1 copy number loss See cases [RCV000510729] Chr20:61568..431502 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2010334)x1 copy number loss not provided [RCV000684132] Chr20:61568..2010334 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1305971)x1 copy number loss not provided [RCV001007067] Chr20:61568..1305971 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.157772_706326dup duplication Neurodevelopmental disorder [RCV000787408] Chr20:157772..706326 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.30C>T (p.Ser10=) single nucleotide variant not provided [RCV000969116] Chr20:349673 [GRCh38]
Chr20:330317 [GRCh37]
Chr20:20p13		 benign
NM_001323682.2(NRSN2):c.192C>T (p.Ile64=) single nucleotide variant not provided [RCV000903355] Chr20:353212 [GRCh38]
Chr20:333856 [GRCh37]
Chr20:20p13		 benign
NM_001323682.2(NRSN2):c.478G>C (p.Glu160Gln) single nucleotide variant not provided [RCV000964081] Chr20:353498 [GRCh38]
Chr20:334142 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13(chr20:288904-874280)x3 copy number gain not provided [RCV000848132] Chr20:288904..874280 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-2269777)x1 copy number loss not provided [RCV001007065] Chr20:61568..2269777 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-491171)x1 copy number loss not provided [RCV000846530] Chr20:61568..491171 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.289G>A (p.Glu97Lys) single nucleotide variant not specified [RCV004321348] Chr20:353309 [GRCh38]
Chr20:333953 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.207G>A (p.Gly69=) single nucleotide variant not provided [RCV000954521] Chr20:353227 [GRCh38]
Chr20:333871 [GRCh37]
Chr20:20p13		 benign
NM_001323682.2(NRSN2):c.363G>A (p.Ala121=) single nucleotide variant not provided [RCV000957998] Chr20:353383 [GRCh38]
Chr20:334027 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13(chr20:79455-347319)x1 copy number loss not provided [RCV002472830] Chr20:79455..347319 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:63244-813880)x1 copy number loss See cases [RCV001194569] Chr20:63244..813880 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-677437)x1 copy number loss not provided [RCV001258750] Chr20:61568..677437 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:67778-974841) copy number loss Global developmental delay [RCV001352667] Chr20:67778..974841 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540) copy number loss not specified [RCV002052695] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-806878) copy number loss not specified [RCV002052694] Chr20:61568..806878 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:242496-742740) copy number gain not specified [RCV002052696] Chr20:242496..742740 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.376G>C (p.Ala126Pro) single nucleotide variant not specified [RCV004113734] Chr20:353396 [GRCh38]
Chr20:334040 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.466G>A (p.Asp156Asn) single nucleotide variant not specified [RCV004090739] Chr20:353486 [GRCh38]
Chr20:334130 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.20G>A (p.Arg7His) single nucleotide variant not specified [RCV004088890] Chr20:349663 [GRCh38]
Chr20:330307 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.311G>A (p.Arg104Gln) single nucleotide variant not specified [RCV004087583] Chr20:353331 [GRCh38]
Chr20:333975 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.186G>T (p.Trp62Cys) single nucleotide variant not specified [RCV004257391] Chr20:349829 [GRCh38]
Chr20:330473 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.549C>G (p.Phe183Leu) single nucleotide variant not specified [RCV004260729] Chr20:353569 [GRCh38]
Chr20:334213 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.77G>A (p.Arg26His) single nucleotide variant not specified [RCV004256166] Chr20:349720 [GRCh38]
Chr20:330364 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.49G>A (p.Val17Met) single nucleotide variant not specified [RCV004293367] Chr20:349692 [GRCh38]
Chr20:330336 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_001323682.2(NRSN2):c.503A>C (p.Gln168Pro) single nucleotide variant not specified [RCV004350747] Chr20:353523 [GRCh38]
Chr20:334167 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.314C>A (p.Ala105Glu) single nucleotide variant not specified [RCV004361290] Chr20:353334 [GRCh38]
Chr20:333978 [GRCh37]
Chr20:20p13		 uncertain significance
Single allele deletion not provided [RCV003448677] Chr20:61001..2316914 [GRCh37]
Chr20:20p13		 pathogenic
Single allele deletion not provided [RCV003448689] Chr20:61001..1041262 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61569-1794919)x3 copy number gain not provided [RCV003485206] Chr20:61569..1794919 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_001323682.2(NRSN2):c.280G>A (p.Gly94Ser) single nucleotide variant not specified [RCV004493627] Chr20:353300 [GRCh38]
Chr20:333944 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.310C>T (p.Arg104Trp) single nucleotide variant not specified [RCV004493628] Chr20:353330 [GRCh38]
Chr20:333974 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.413T>C (p.Met138Thr) single nucleotide variant not specified [RCV004493630] Chr20:353433 [GRCh38]
Chr20:334077 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.394A>G (p.Ile132Val) single nucleotide variant not specified [RCV004493629] Chr20:353414 [GRCh38]
Chr20:334058 [GRCh37]
Chr20:20p13		 likely benign
NM_001323682.2(NRSN2):c.85C>A (p.Leu29Met) single nucleotide variant not specified [RCV004650471] Chr20:349728 [GRCh38]
Chr20:330372 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.224T>A (p.Leu75Gln) single nucleotide variant not specified [RCV004650472] Chr20:353244 [GRCh38]
Chr20:333888 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.40G>C (p.Gly14Arg) single nucleotide variant not specified [RCV004638719] Chr20:349683 [GRCh38]
Chr20:330327 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001323682.2(NRSN2):c.160C>T (p.Arg54Cys) single nucleotide variant not specified [RCV004638718] Chr20:349803 [GRCh38]
Chr20:330447 [GRCh37]
Chr20:20p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3059
Count of miRNA genes:809
Interacting mature miRNAs:948
Transcripts:ENST00000382285, ENST00000382291, ENST00000470439, ENST00000492242, ENST00000608467, ENST00000608736, ENST00000608875, ENST00000609179, ENST00000609504
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
AL034517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720326,807 - 326,929UniSTSGRCh37
Build 3620274,807 - 274,929RGDNCBI36
Celera20421,657 - 421,779RGD
Cytogenetic Map20p13UniSTS
HuRef20278,412 - 278,534UniSTS
A009P19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720334,169 - 334,269UniSTSGRCh37
Build 3620282,169 - 282,269RGDNCBI36
Celera20429,016 - 429,116RGD
Cytogenetic Map20p13UniSTS
HuRef20285,771 - 285,871UniSTS
GeneMap99-GB4 RH Map208.54UniSTS
WI-14697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720335,379 - 335,483UniSTSGRCh37
Build 3620283,379 - 283,483RGDNCBI36
Celera20430,225 - 430,329RGD
Cytogenetic Map20p13UniSTS
HuRef20286,980 - 287,084UniSTS
GeneMap99-GB4 RH Map209.47UniSTS
Whitehead-RH Map2019.9UniSTS


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 2431 2788 2245 4968 1726 2348 5 622 1939 464 2268 7277 6449 51 3733 851 1742 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF116644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW292804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE792891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP202782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP251173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD102518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA479487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA708181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB172225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000382285   ⟹   ENSP00000371722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,111 - 354,862 (+)Ensembl
Ensembl Acc Id: ENST00000382291   ⟹   ENSP00000371728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,024 - 354,868 (+)Ensembl
Ensembl Acc Id: ENST00000470439   ⟹   ENSP00000476925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20348,220 - 354,829 (+)Ensembl
Ensembl Acc Id: ENST00000492242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20346,883 - 354,830 (+)Ensembl
Ensembl Acc Id: ENST00000608467   ⟹   ENSP00000479642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,120 - 359,405 (+)Ensembl
Ensembl Acc Id: ENST00000608736   ⟹   ENSP00000477183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20349,249 - 359,660 (+)Ensembl
Ensembl Acc Id: ENST00000608875   ⟹   ENSP00000476543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20349,726 - 354,848 (+)Ensembl
Ensembl Acc Id: ENST00000609179   ⟹   ENSP00000477135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20346,782 - 353,493 (+)Ensembl
Ensembl Acc Id: ENST00000609504   ⟹   ENSP00000477349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,105 - 353,502 (+)Ensembl
Ensembl Acc Id: ENST00000621012   ⟹   ENSP00000482706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20349,633 - 354,861 (+)Ensembl
Ensembl Acc Id: ENST00000714400   ⟹   ENSP00000519668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20346,974 - 354,804 (+)Ensembl
Ensembl Acc Id: ENST00000714401   ⟹   ENSP00000519669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,111 - 354,699 (+)Ensembl
Ensembl Acc Id: ENST00000714402   ⟹   ENSP00000519670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,111 - 354,810 (+)Ensembl
Ensembl Acc Id: ENST00000714403   ⟹   ENSP00000519671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,117 - 353,635 (+)Ensembl
Ensembl Acc Id: ENST00000714404   ⟹   ENSP00000519672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20347,905 - 354,853 (+)Ensembl
RefSeq Acc Id: NM_001323679   ⟹   NP_001310608
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323680   ⟹   NP_001310609
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323681   ⟹   NP_001310610
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323682   ⟹   NP_001310611
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323683   ⟹   NP_001310612
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323684   ⟹   NP_001310613
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323685   ⟹   NP_001310614
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,905 - 354,862 (+)NCBI
CHM1_120328,522 - 335,486 (+)NCBI
T2T-CHM13v2.020391,253 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024958   ⟹   NP_079234
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
GRCh3720326,789 - 335,512 (+)NCBI
Build 3620275,775 - 283,505 (+)NCBI Archive
Celera20422,220 - 430,358 (+)RGD
HuRef20278,975 - 287,113 (+)RGD
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136649
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820347,111 - 354,862 (+)NCBI
CHM1_120327,343 - 335,486 (+)NCBI
T2T-CHM13v2.020390,459 - 398,227 (+)NCBI
Sequence:
RefSeq Acc Id: NP_079234   ⟸   NM_024958
- Peptide Label: isoform 1
- UniProtKB: Q6FII5 (UniProtKB/Swiss-Prot),   A8K3B2 (UniProtKB/Swiss-Prot),   Q9NUD3 (UniProtKB/Swiss-Prot),   Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310613   ⟸   NM_001323684
- Peptide Label: isoform 1
- UniProtKB: Q6FII5 (UniProtKB/Swiss-Prot),   A8K3B2 (UniProtKB/Swiss-Prot),   Q9NUD3 (UniProtKB/Swiss-Prot),   Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310611   ⟸   NM_001323682
- Peptide Label: isoform 1
- UniProtKB: Q6FII5 (UniProtKB/Swiss-Prot),   A8K3B2 (UniProtKB/Swiss-Prot),   Q9NUD3 (UniProtKB/Swiss-Prot),   Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310612   ⟸   NM_001323683
- Peptide Label: isoform 1
- UniProtKB: Q6FII5 (UniProtKB/Swiss-Prot),   A8K3B2 (UniProtKB/Swiss-Prot),   Q9NUD3 (UniProtKB/Swiss-Prot),   Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310608   ⟸   NM_001323679
- Peptide Label: isoform 2
- UniProtKB: Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310610   ⟸   NM_001323681
- Peptide Label: isoform 1
- UniProtKB: Q6FII5 (UniProtKB/Swiss-Prot),   A8K3B2 (UniProtKB/Swiss-Prot),   Q9NUD3 (UniProtKB/Swiss-Prot),   Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310609   ⟸   NM_001323680
- Peptide Label: isoform 1
- UniProtKB: Q6FII5 (UniProtKB/Swiss-Prot),   A8K3B2 (UniProtKB/Swiss-Prot),   Q9NUD3 (UniProtKB/Swiss-Prot),   Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310614   ⟸   NM_001323685
- Peptide Label: isoform 1
- UniProtKB: Q6FII5 (UniProtKB/Swiss-Prot),   A8K3B2 (UniProtKB/Swiss-Prot),   Q9NUD3 (UniProtKB/Swiss-Prot),   Q9GZP1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000477135   ⟸   ENST00000609179
Ensembl Acc Id: ENSP00000477349   ⟸   ENST00000609504
Ensembl Acc Id: ENSP00000482706   ⟸   ENST00000621012
Ensembl Acc Id: ENSP00000476925   ⟸   ENST00000470439
Ensembl Acc Id: ENSP00000371722   ⟸   ENST00000382285
Ensembl Acc Id: ENSP00000371728   ⟸   ENST00000382291
Ensembl Acc Id: ENSP00000476543   ⟸   ENST00000608875
Ensembl Acc Id: ENSP00000477183   ⟸   ENST00000608736
Ensembl Acc Id: ENSP00000479642   ⟸   ENST00000608467
Ensembl Acc Id: ENSP00000519668   ⟸   ENST00000714400
Ensembl Acc Id: ENSP00000519671   ⟸   ENST00000714403
Ensembl Acc Id: ENSP00000519672   ⟸   ENST00000714404
Ensembl Acc Id: ENSP00000519669   ⟸   ENST00000714401
Ensembl Acc Id: ENSP00000519670   ⟸   ENST00000714402

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9GZP1-F1-model_v2 AlphaFold Q9GZP1 1-204 view protein structure

Promoters
RGD ID:6798710
Promoter ID:HG_KWN:38289
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000382285,   ENST00000382291,   OTTHUMT00000077443
Position:
Human AssemblyChrPosition (strand)Source
Build 3620275,481 - 275,981 (+)MPROMDB
RGD ID:6799028
Promoter ID:HG_KWN:38290
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000077437,   OTTHUMT00000077445
Position:
Human AssemblyChrPosition (strand)Source
Build 3620276,319 - 276,819 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16229 AgrOrtholog
COSMIC NRSN2 COSMIC
Ensembl Genes ENSG00000125841 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000382285 ENTREZGENE
  ENST00000382285.7 UniProtKB/Swiss-Prot
  ENST00000382291 ENTREZGENE
  ENST00000382291.7 UniProtKB/Swiss-Prot
  ENST00000470439.6 UniProtKB/TrEMBL
  ENST00000492242 ENTREZGENE
  ENST00000492242.6 UniProtKB/TrEMBL
  ENST00000608467.5 UniProtKB/TrEMBL
  ENST00000608736.1 UniProtKB/TrEMBL
  ENST00000608875.1 UniProtKB/TrEMBL
  ENST00000609179.5 UniProtKB/TrEMBL
  ENST00000609504.5 UniProtKB/TrEMBL
  ENST00000714400.1 UniProtKB/TrEMBL
  ENST00000714401.1 UniProtKB/TrEMBL
  ENST00000714402 ENTREZGENE
  ENST00000714403 ENTREZGENE
  ENST00000714404 ENTREZGENE
GTEx ENSG00000125841 GTEx
HGNC ID HGNC:16229 ENTREZGENE
Human Proteome Map NRSN2 Human Proteome Map
InterPro Neurensin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80023 UniProtKB/Swiss-Prot
NCBI Gene 80023 ENTREZGENE
OMIM 610666 OMIM
PANTHER PTHR14796 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14796:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neurensin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25805 PharmGKB
UniProt A0A087WVS5_HUMAN UniProtKB/TrEMBL
  A0AAQ5BI16_HUMAN UniProtKB/TrEMBL
  A0AAQ5BI19_HUMAN UniProtKB/TrEMBL
  A8K3B2 ENTREZGENE
  NRSN2_HUMAN UniProtKB/Swiss-Prot
  Q6FII5 ENTREZGENE
  Q9GZP1 ENTREZGENE
  Q9NUD3 ENTREZGENE
  V9GY99_HUMAN UniProtKB/TrEMBL
  V9GYN1_HUMAN UniProtKB/TrEMBL
  V9GYV8_HUMAN UniProtKB/TrEMBL
  V9GYY0_HUMAN UniProtKB/TrEMBL
  V9GZ28_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K3B2 UniProtKB/Swiss-Prot
  Q6FII5 UniProtKB/Swiss-Prot
  Q9NUD3 UniProtKB/Swiss-Prot