NRG2 (neuregulin 2) - Rat Genome Database

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Gene: NRG2 (neuregulin 2) Homo sapiens
Analyze
Symbol: NRG2
Name: neuregulin 2
RGD ID: 1606028
HGNC Page HGNC:7998
Description: Predicted to enable ErbB-4 class receptor binding activity and receptor ligand activity. Predicted to be involved in several processes, including ERBB signaling pathway; intracellular signal transduction; and regulation of synapse organization. Predicted to be located in extracellular region. Predicted to be active in GABA-ergic synapse; extracellular space; and glutamatergic synapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: divergent of neuregulin-1; Don-1; DON1; HRG2; neural- and thymus-derived activator for ErbB kinases; NTAK; pro-neuregulin-2, membrane-bound isoform; pro-NRG2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,846,781 - 140,043,299 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,846,779 - 140,043,299 (-)EnsemblGRCh38hg38GRCh38
GRCh375139,226,366 - 139,422,884 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365139,207,444 - 139,403,063 (-)NCBINCBI36Build 36hg18NCBI36
Celera5135,301,792 - 135,498,704 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5134,369,651 - 134,566,061 (-)NCBIHuRef
CHM1_15138,659,474 - 138,855,994 (-)NCBICHM1_1
T2T-CHM13v2.05140,371,883 - 140,568,402 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. A novel brain-derived member of the epidermal growth factor family that interacts with ErbB3 and ErbB4. Higashiyama S, etal., J Biochem (Tokyo) 1997 Sep;122(3):675-80.
2. Neuregulins and cancer. Montero JC, etal., Clin Cancer Res. 2008 Jun 1;14(11):3237-41. doi: 10.1158/1078-0432.CCR-07-5133.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9168115   PMID:9199335   PMID:9417904   PMID:10369162   PMID:10974560   PMID:12477932   PMID:14722120   PMID:15358134   PMID:15961242   PMID:16344560   PMID:17563728   PMID:17598910  
PMID:17945187   PMID:17962208   PMID:19086053   PMID:21873635   PMID:27345716   PMID:29507755   PMID:32393512   PMID:33378376   PMID:33961781   PMID:34284546   PMID:34549707   PMID:34996744  
PMID:36411648  


Genomics

Comparative Map Data
NRG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,846,781 - 140,043,299 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,846,779 - 140,043,299 (-)EnsemblGRCh38hg38GRCh38
GRCh375139,226,366 - 139,422,884 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365139,207,444 - 139,403,063 (-)NCBINCBI36Build 36hg18NCBI36
Celera5135,301,792 - 135,498,704 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5134,369,651 - 134,566,061 (-)NCBIHuRef
CHM1_15138,659,474 - 138,855,994 (-)NCBICHM1_1
T2T-CHM13v2.05140,371,883 - 140,568,402 (-)NCBIT2T-CHM13v2.0
Nrg2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391836,147,634 - 36,332,754 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1836,150,705 - 36,330,433 (-)EnsemblGRCm39 Ensembl
GRCm381836,014,581 - 36,197,532 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1836,017,652 - 36,197,380 (-)EnsemblGRCm38mm10GRCm38
MGSCv371836,177,303 - 36,356,814 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361836,177,303 - 36,356,814 (-)NCBIMGSCv36mm8
Celera1836,474,450 - 36,653,084 (-)NCBICelera
Cytogenetic Map18B2NCBI
cM Map1819.38NCBI
Nrg2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81827,890,578 - 28,072,538 (-)NCBIGRCr8
mRatBN7.21827,616,542 - 27,798,505 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1827,619,661 - 27,798,505 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1827,743,902 - 27,925,871 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01828,505,789 - 28,687,737 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01827,840,647 - 28,022,647 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01828,835,391 - 29,015,552 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1828,835,417 - 29,015,552 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01828,544,864 - 28,724,922 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41828,650,097 - 28,828,772 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11828,676,749 - 28,855,418 (-)NCBI
Celera1827,350,962 - 27,529,758 (-)NCBICelera
Cytogenetic Map18p11NCBI
Nrg2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955418548,624 - 793,861 (+)NCBIChiLan1.0ChiLan1.0
NRG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24135,109,036 - 135,304,138 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15133,248,589 - 133,444,133 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05135,212,496 - 135,411,469 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15141,333,911 - 141,528,420 (-)NCBIpanpan1.1PanPan1.1panPan2
NRG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1235,085,192 - 35,264,509 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl235,085,361 - 35,264,378 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha232,188,379 - 32,434,387 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0235,540,482 - 35,786,931 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl235,540,758 - 35,596,619 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1232,592,831 - 32,839,160 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0233,459,495 - 33,706,597 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0234,211,046 - 34,457,510 (-)NCBIUU_Cfam_GSD_1.0
Nrg2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213152,546,964 - 152,728,032 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365318,884,642 - 9,064,869 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365318,884,565 - 9,064,541 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRG2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2141,662,369 - 141,824,727 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12141,660,936 - 141,825,281 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22147,549,110 - 147,575,155 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NRG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12342,498,367 - 42,694,330 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,499,503 - 42,692,968 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603435,126,483 - 35,386,932 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nrg2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474332,620,295 - 32,810,391 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474332,620,025 - 32,810,990 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NRG2
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_013981.3(NRG2):c.1169C>T (p.Ser390Phe) single nucleotide variant Malignant melanoma [RCV000066654] Chr5:139865117 [GRCh38]
Chr5:139244702 [GRCh37]
Chr5:139224886 [NCBI36]
Chr5:5q31.2
not provided
NM_004883.2(NRG2):c.1076G>A (p.Cys359Tyr) single nucleotide variant Malignant melanoma [RCV000066655] Chr5:139871757 [GRCh38]
Chr5:139251342 [GRCh37]
Chr5:139231526 [NCBI36]
Chr5:5q31.2
not provided
NM_001184935.1(NRG2):c.995C>T (p.Ala332Val) single nucleotide variant Malignant melanoma [RCV000061124] Chr5:139855775 [GRCh38]
Chr5:139235360 [GRCh37]
Chr5:139215544 [NCBI36]
Chr5:5q31.2
not provided
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
NM_004883.3(NRG2):c.1990C>T (p.Pro664Ser) single nucleotide variant Inborn genetic diseases [RCV003244146] Chr5:139848480 [GRCh38]
Chr5:139228065 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_004883.3(NRG2):c.416T>C (p.Val139Ala) single nucleotide variant Inborn genetic diseases [RCV003253959] Chr5:140042654 [GRCh38]
Chr5:139422239 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.50G>C (p.Gly17Ala) single nucleotide variant Inborn genetic diseases [RCV003253960] Chr5:140043020 [GRCh38]
Chr5:139422605 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.442A>G (p.Ser148Gly) single nucleotide variant Inborn genetic diseases [RCV003287762] Chr5:140042628 [GRCh38]
Chr5:139422213 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.144G>C (p.Arg48Ser) single nucleotide variant Inborn genetic diseases [RCV003249534] Chr5:140042926 [GRCh38]
Chr5:139422511 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.785G>A (p.Gly262Asp) single nucleotide variant Inborn genetic diseases [RCV003279824] Chr5:139887427 [GRCh38]
Chr5:139267012 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.141C>G (p.Ser47Arg) single nucleotide variant Inborn genetic diseases [RCV003253955] Chr5:140042929 [GRCh38]
Chr5:139422514 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_004883.3(NRG2):c.155A>G (p.Asn52Ser) single nucleotide variant Inborn genetic diseases [RCV003288816] Chr5:140042915 [GRCh38]
Chr5:139422500 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.2206A>G (p.Thr736Ala) single nucleotide variant Inborn genetic diseases [RCV003290720] Chr5:139848264 [GRCh38]
Chr5:139227849 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.385G>T (p.Val129Leu) single nucleotide variant Inborn genetic diseases [RCV003252356] Chr5:140042685 [GRCh38]
Chr5:139422270 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.53G>A (p.Arg18Gln) single nucleotide variant Inborn genetic diseases [RCV003169231]|not provided [RCV000885561] Chr5:140043017 [GRCh38]
Chr5:139422602 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_004883.3(NRG2):c.424G>A (p.Gly142Ser) single nucleotide variant not provided [RCV000913399] Chr5:140042646 [GRCh38]
Chr5:139422231 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.1971ACCCGG[1] (p.654PG[6]) microsatellite not provided [RCV001645146] Chr5:139848488..139848493 [GRCh38]
Chr5:139228073..139228078 [GRCh37]
Chr5:5q31.2
benign
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_004883.3(NRG2):c.872+1G>A single nucleotide variant Autism spectrum disorder [RCV003127360] Chr5:139887339 [GRCh38]
Chr5:139266924 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2399G>C (p.Gly800Ala) single nucleotide variant Inborn genetic diseases [RCV003253957] Chr5:139848071 [GRCh38]
Chr5:139227656 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.615A>C (p.Leu205Phe) single nucleotide variant Inborn genetic diseases [RCV003253961] Chr5:140042455 [GRCh38]
Chr5:139422040 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1 copy number loss not provided [RCV001834327] Chr5:138675227..139314012 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_004883.3(NRG2):c.2177G>C (p.Arg726Pro) single nucleotide variant Inborn genetic diseases [RCV003253956] Chr5:139848293 [GRCh38]
Chr5:139227878 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2224C>G (p.Arg742Gly) single nucleotide variant Inborn genetic diseases [RCV003305183] Chr5:139848246 [GRCh38]
Chr5:139227831 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.130G>A (p.Gly44Ser) single nucleotide variant Inborn genetic diseases [RCV003302391] Chr5:140042940 [GRCh38]
Chr5:139422525 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.97AGC[8] (p.Ser41del) microsatellite Hepatocellular carcinoma [RCV002302748] Chr5:140042947..140042949 [GRCh38]
Chr5:139422532..139422534 [GRCh37]
Chr5:5q31.2
pathogenic
NM_004883.3(NRG2):c.247del (p.Ala83fs) deletion Hepatocellular carcinoma [RCV002302801] Chr5:140042823 [GRCh38]
Chr5:139422408 [GRCh37]
Chr5:5q31.2
pathogenic
NM_004883.3(NRG2):c.1989_1990insT (p.Pro664fs) insertion Hepatocellular carcinoma [RCV002302821] Chr5:139848480..139848481 [GRCh38]
Chr5:139228065..139228066 [GRCh37]
Chr5:5q31.2
pathogenic
NM_004883.3(NRG2):c.73AGC[5] (p.Ser30del) microsatellite Hepatocellular carcinoma [RCV002302761] Chr5:140042980..140042982 [GRCh38]
Chr5:139422565..139422567 [GRCh37]
Chr5:5q31.2
pathogenic
NM_004883.3(NRG2):c.1957C>A (p.Pro653Thr) single nucleotide variant Inborn genetic diseases [RCV002906132] Chr5:139848513 [GRCh38]
Chr5:139228098 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1598C>T (p.Ser533Phe) single nucleotide variant Inborn genetic diseases [RCV002817130] Chr5:139851778 [GRCh38]
Chr5:139231363 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2249G>T (p.Gly750Val) single nucleotide variant Inborn genetic diseases [RCV002858957] Chr5:139848221 [GRCh38]
Chr5:139227806 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1024G>A (p.Ala342Thr) single nucleotide variant Inborn genetic diseases [RCV002817018] Chr5:139871809 [GRCh38]
Chr5:139251394 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1703G>A (p.Arg568Gln) single nucleotide variant Inborn genetic diseases [RCV002974146] Chr5:139851673 [GRCh38]
Chr5:139231258 [GRCh37]
Chr5:5q31.2
likely benign
NM_004883.3(NRG2):c.2401G>T (p.Ala801Ser) single nucleotide variant Inborn genetic diseases [RCV002946154] Chr5:139848069 [GRCh38]
Chr5:139227654 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1975G>C (p.Gly659Arg) single nucleotide variant Inborn genetic diseases [RCV002778171] Chr5:139848495 [GRCh38]
Chr5:139228080 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2209T>C (p.Ser737Pro) single nucleotide variant Inborn genetic diseases [RCV002733685] Chr5:139848261 [GRCh38]
Chr5:139227846 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.850C>T (p.Arg284Cys) single nucleotide variant Inborn genetic diseases [RCV002760028] Chr5:139887362 [GRCh38]
Chr5:139266947 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2003C>T (p.Ala668Val) single nucleotide variant Inborn genetic diseases [RCV002758452] Chr5:139848467 [GRCh38]
Chr5:139228052 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1679C>T (p.Ala560Val) single nucleotide variant Inborn genetic diseases [RCV002759442] Chr5:139851697 [GRCh38]
Chr5:139231282 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1381C>T (p.Pro461Ser) single nucleotide variant Inborn genetic diseases [RCV002924824] Chr5:139852939 [GRCh38]
Chr5:139232524 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1712C>T (p.Ala571Val) single nucleotide variant Inborn genetic diseases [RCV002845396] Chr5:139851664 [GRCh38]
Chr5:139231249 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.217C>A (p.Pro73Thr) single nucleotide variant Inborn genetic diseases [RCV003001726] Chr5:140042853 [GRCh38]
Chr5:139422438 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1777G>T (p.Val593Leu) single nucleotide variant Inborn genetic diseases [RCV002980175] Chr5:139848693 [GRCh38]
Chr5:139228278 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.982G>A (p.Val328Ile) single nucleotide variant Inborn genetic diseases [RCV002660077] Chr5:139880865 [GRCh38]
Chr5:139260450 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2179C>T (p.Pro727Ser) single nucleotide variant Inborn genetic diseases [RCV002693698] Chr5:139848291 [GRCh38]
Chr5:139227876 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1426A>C (p.Lys476Gln) single nucleotide variant Inborn genetic diseases [RCV002976851] Chr5:139852550 [GRCh38]
Chr5:139232135 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.298G>A (p.Gly100Ser) single nucleotide variant Inborn genetic diseases [RCV002666106] Chr5:140042772 [GRCh38]
Chr5:139422357 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1750C>T (p.Arg584Cys) single nucleotide variant Inborn genetic diseases [RCV003004621] Chr5:139851626 [GRCh38]
Chr5:139231211 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1241T>G (p.Val414Gly) single nucleotide variant Inborn genetic diseases [RCV002786995] Chr5:139855727 [GRCh38]
Chr5:139235312 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2269C>T (p.Arg757Trp) single nucleotide variant Inborn genetic diseases [RCV002893493] Chr5:139848201 [GRCh38]
Chr5:139227786 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.79A>G (p.Ser27Gly) single nucleotide variant Inborn genetic diseases [RCV002744102] Chr5:140042991 [GRCh38]
Chr5:139422576 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2255C>A (p.Ala752Glu) single nucleotide variant Inborn genetic diseases [RCV002804298] Chr5:139848215 [GRCh38]
Chr5:139227800 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.731G>A (p.Ser244Asn) single nucleotide variant Inborn genetic diseases [RCV002921638] Chr5:139887481 [GRCh38]
Chr5:139267066 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2090T>C (p.Leu697Pro) single nucleotide variant Inborn genetic diseases [RCV002675074] Chr5:139848380 [GRCh38]
Chr5:139227965 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2276C>T (p.Ala759Val) single nucleotide variant Inborn genetic diseases [RCV002921286] Chr5:139848194 [GRCh38]
Chr5:139227779 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1856A>C (p.Glu619Ala) single nucleotide variant Inborn genetic diseases [RCV002703462] Chr5:139848614 [GRCh38]
Chr5:139228199 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2095A>G (p.Ser699Gly) single nucleotide variant Inborn genetic diseases [RCV002920536] Chr5:139848375 [GRCh38]
Chr5:139227960 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.964G>C (p.Val322Leu) single nucleotide variant Inborn genetic diseases [RCV003203254] Chr5:139880883 [GRCh38]
Chr5:139260468 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1813G>A (p.Val605Met) single nucleotide variant Inborn genetic diseases [RCV003191358] Chr5:139848657 [GRCh38]
Chr5:139228242 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.511A>C (p.Ser171Arg) single nucleotide variant Inborn genetic diseases [RCV003209089] Chr5:140042559 [GRCh38]
Chr5:139422144 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1957C>G (p.Pro653Ala) single nucleotide variant Inborn genetic diseases [RCV003207326] Chr5:139848513 [GRCh38]
Chr5:139228098 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2071T>G (p.Cys691Gly) single nucleotide variant Inborn genetic diseases [RCV003197578] Chr5:139848399 [GRCh38]
Chr5:139227984 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1991C>G (p.Pro664Arg) single nucleotide variant Inborn genetic diseases [RCV003186020] Chr5:139848479 [GRCh38]
Chr5:139228064 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1016C>T (p.Ser339Leu) single nucleotide variant Inborn genetic diseases [RCV003204037] Chr5:139871817 [GRCh38]
Chr5:139251402 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2368G>A (p.Ala790Thr) single nucleotide variant Inborn genetic diseases [RCV003340364] Chr5:139848102 [GRCh38]
Chr5:139227687 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.806G>A (p.Arg269His) single nucleotide variant Inborn genetic diseases [RCV003343151] Chr5:139887406 [GRCh38]
Chr5:139266991 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2270G>C (p.Arg757Pro) single nucleotide variant Inborn genetic diseases [RCV003359842] Chr5:139848200 [GRCh38]
Chr5:139227785 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1874C>T (p.Ser625Leu) single nucleotide variant Inborn genetic diseases [RCV003379828] Chr5:139848596 [GRCh38]
Chr5:139228181 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.187C>G (p.Pro63Ala) single nucleotide variant Inborn genetic diseases [RCV003350589] Chr5:140042883 [GRCh38]
Chr5:139422468 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.2263C>G (p.Arg755Gly) single nucleotide variant Inborn genetic diseases [RCV003376984] Chr5:139848207 [GRCh38]
Chr5:139227792 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.91G>C (p.Glu31Gln) single nucleotide variant Inborn genetic diseases [RCV003384437] Chr5:140042979 [GRCh38]
Chr5:139422564 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_004883.3(NRG2):c.1469A>C (p.Glu490Ala) single nucleotide variant Inborn genetic diseases [RCV003373628] Chr5:139852507 [GRCh38]
Chr5:139232092 [GRCh37]
Chr5:5q31.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4056
Count of miRNA genes:967
Interacting mature miRNAs:1213
Transcripts:ENST00000289409, ENST00000289422, ENST00000340391, ENST00000358522, ENST00000361474, ENST00000378238, ENST00000394770, ENST00000518130, ENST00000519478, ENST00000541337, ENST00000545385
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
L28239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,412,607 - 139,412,738UniSTSGRCh37
Build 365139,392,791 - 139,392,922RGDNCBI36
Celera5135,488,427 - 135,488,558RGD
Cytogenetic Map5q23-q33UniSTS
HuRef5134,555,784 - 134,555,915UniSTS
bac51301S  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,261,198 - 139,261,322UniSTSGRCh37
Build 365139,241,382 - 139,241,506RGDNCBI36
Celera5135,336,951 - 135,337,075RGD
Cytogenetic Map5q23-q33UniSTS
HuRef5134,404,526 - 134,404,650UniSTS
bac51539T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,321,586 - 139,321,850UniSTSGRCh37
Build 365139,301,770 - 139,302,034RGDNCBI36
Celera5135,397,406 - 135,397,670RGD
Cytogenetic Map5q23-q33UniSTS
HuRef5134,464,918 - 134,465,182UniSTS
bac51651T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,416,005 - 139,416,192UniSTSGRCh37
Build 365139,396,189 - 139,396,376RGDNCBI36
Celera5135,491,825 - 135,492,012RGD
Cytogenetic Map5q23-q33UniSTS
HuRef5134,559,182 - 134,559,369UniSTS
bac51688T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,384,808 - 139,385,013UniSTSGRCh37
Build 365139,364,992 - 139,365,197RGDNCBI36
Celera5135,460,627 - 135,460,832RGD
Cytogenetic Map5q23-q33UniSTS
HuRef5134,528,189 - 134,528,394UniSTS
B290YC9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,343,835 - 139,344,025UniSTSGRCh37
Build 365139,324,019 - 139,324,209RGDNCBI36
Celera5135,419,663 - 135,419,846RGD
Cytogenetic Map5q23-q33UniSTS
HuRef5134,487,177 - 134,487,360UniSTS
Whitehead-RH Map5437.6UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5891.6UniSTS


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 1 9 13 41 2 125 109 450 20 104 17 11 1 113
Low 1836 1910 1250 221 824 70 4017 1855 3236 287 1249 1140 157 1 1193 2604 2 2
Below cutoff 519 912 421 351 782 351 210 224 44 106 89 406 4 10 71 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001184935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC094080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI271427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA090538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U92987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000289409   ⟹   ENSP00000289409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,847,917 - 140,043,069 (-)Ensembl
RefSeq Acc Id: ENST00000289422   ⟹   ENSP00000289422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,847,649 - 140,043,147 (-)Ensembl
RefSeq Acc Id: ENST00000340391   ⟹   ENSP00000342660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,847,917 - 139,904,478 (-)Ensembl
RefSeq Acc Id: ENST00000358522   ⟹   ENSP00000351323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,847,917 - 140,043,069 (-)Ensembl
RefSeq Acc Id: ENST00000361474   ⟹   ENSP00000354910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,846,781 - 140,043,299 (-)Ensembl
RefSeq Acc Id: ENST00000378238   ⟹   ENSP00000367483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,851,753 - 140,043,069 (-)Ensembl
RefSeq Acc Id: ENST00000518130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,869,538 - 139,904,310 (-)Ensembl
RefSeq Acc Id: ENST00000519478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,869,399 - 139,871,803 (-)Ensembl
RefSeq Acc Id: ENST00000541337   ⟹   ENSP00000444235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,846,779 - 140,043,299 (-)Ensembl
RefSeq Acc Id: NM_001184935   ⟹   NP_001171864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 140,043,299 (-)NCBI
GRCh375139,226,364 - 139,422,884 (-)NCBI
HuRef5134,369,651 - 134,566,061 (-)ENTREZGENE
CHM1_15138,659,474 - 138,855,994 (-)NCBI
T2T-CHM13v2.05140,371,883 - 140,568,402 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410780   ⟹   NP_001397709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 139,904,471 (-)NCBI
T2T-CHM13v2.05140,371,883 - 140,429,577 (-)NCBI
RefSeq Acc Id: NM_004883   ⟹   NP_004874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 140,043,299 (-)NCBI
GRCh375139,226,364 - 139,422,884 (-)ENTREZGENE
GRCh375139,226,364 - 139,422,884 (-)NCBI
Build 365139,207,444 - 139,403,063 (-)NCBI Archive
HuRef5134,369,651 - 134,566,061 (-)ENTREZGENE
CHM1_15138,659,474 - 138,855,994 (-)NCBI
T2T-CHM13v2.05140,371,883 - 140,568,402 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013981   ⟹   NP_053584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 140,043,299 (-)NCBI
GRCh375139,226,364 - 139,422,884 (-)ENTREZGENE
GRCh375139,226,364 - 139,422,884 (-)NCBI
Build 365139,207,444 - 139,403,063 (-)NCBI Archive
HuRef5134,369,651 - 134,566,061 (-)ENTREZGENE
CHM1_15138,659,474 - 138,855,994 (-)NCBI
T2T-CHM13v2.05140,371,883 - 140,568,402 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013982   ⟹   NP_053585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 140,043,299 (-)NCBI
GRCh375139,226,364 - 139,422,884 (-)ENTREZGENE
GRCh375139,226,364 - 139,422,884 (-)NCBI
Build 365139,207,444 - 139,403,063 (-)NCBI Archive
HuRef5134,369,651 - 134,566,061 (-)ENTREZGENE
CHM1_15138,659,474 - 138,855,994 (-)NCBI
T2T-CHM13v2.05140,371,883 - 140,568,402 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013983   ⟹   NP_053586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 140,043,299 (-)NCBI
GRCh375139,226,364 - 139,422,884 (-)ENTREZGENE
GRCh375139,226,364 - 139,422,884 (-)NCBI
Build 365139,207,444 - 139,403,063 (-)NCBI Archive
HuRef5134,369,651 - 134,566,061 (-)ENTREZGENE
CHM1_15138,659,474 - 138,855,994 (-)NCBI
T2T-CHM13v2.05140,371,883 - 140,568,402 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005268533   ⟹   XP_005268590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 139,865,625 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714810   ⟹   XP_006714873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,855,676 - 140,043,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537713   ⟹   XP_011536015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,869,394 - 140,043,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417897   ⟹   XP_047273853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,846,781 - 139,865,625 (-)NCBI
RefSeq Acc Id: XM_054353829   ⟹   XP_054209804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05140,390,734 - 140,568,402 (-)NCBI
RefSeq Acc Id: XM_054353830   ⟹   XP_054209805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05140,371,883 - 140,390,727 (-)NCBI
RefSeq Acc Id: XM_054353831   ⟹   XP_054209806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05140,371,883 - 140,390,727 (-)NCBI
RefSeq Acc Id: XM_054353832   ⟹   XP_054209807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05140,380,778 - 140,568,402 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001171864 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397709 (Get FASTA)   NCBI Sequence Viewer  
  NP_004874 (Get FASTA)   NCBI Sequence Viewer  
  NP_053584 (Get FASTA)   NCBI Sequence Viewer  
  NP_053585 (Get FASTA)   NCBI Sequence Viewer  
  NP_053586 (Get FASTA)   NCBI Sequence Viewer  
  XP_005268590 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714873 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536015 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273853 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054209807 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF28848 (Get FASTA)   NCBI Sequence Viewer  
  AAF28849 (Get FASTA)   NCBI Sequence Viewer  
  AAF28850 (Get FASTA)   NCBI Sequence Viewer  
  AAF28851 (Get FASTA)   NCBI Sequence Viewer  
  AAF28852 (Get FASTA)   NCBI Sequence Viewer  
  AAF28853 (Get FASTA)   NCBI Sequence Viewer  
  AAI03984 (Get FASTA)   NCBI Sequence Viewer  
  AAI03985 (Get FASTA)   NCBI Sequence Viewer  
  AAI14334 (Get FASTA)   NCBI Sequence Viewer  
  AAI14335 (Get FASTA)   NCBI Sequence Viewer  
  BAA23417 (Get FASTA)   NCBI Sequence Viewer  
  BAG54044 (Get FASTA)   NCBI Sequence Viewer  
  EAW62078 (Get FASTA)   NCBI Sequence Viewer  
  EAW62080 (Get FASTA)   NCBI Sequence Viewer  
  EAW62081 (Get FASTA)   NCBI Sequence Viewer  
  EAW62082 (Get FASTA)   NCBI Sequence Viewer  
  EAW62083 (Get FASTA)   NCBI Sequence Viewer  
  EAW62084 (Get FASTA)   NCBI Sequence Viewer  
  EAW62085 (Get FASTA)   NCBI Sequence Viewer  
  EAW62086 (Get FASTA)   NCBI Sequence Viewer  
  EAW62087 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000289409
  ENSP00000289409.4
  ENSP00000289422
  ENSP00000289422.7
  ENSP00000342660
  ENSP00000342660.3
  ENSP00000351323
  ENSP00000351323.3
  ENSP00000354910
  ENSP00000354910.1
  ENSP00000367483
  ENSP00000367483.4
  ENSP00000444235
  ENSP00000444235.1
GenBank Protein O14511 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001171864   ⟸   NM_001184935
- Peptide Label: isoform 7
- UniProtKB: F5GZS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_053584   ⟸   NM_013981
- Peptide Label: isoform 2
- UniProtKB: O14511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_053586   ⟸   NM_013983
- Peptide Label: isoform 4
- UniProtKB: O14511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004874   ⟸   NM_004883
- Peptide Label: isoform 1
- UniProtKB: O14511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_053585   ⟸   NM_013982
- Peptide Label: isoform 3
- UniProtKB: O14511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005268590   ⟸   XM_005268533
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006714873   ⟸   XM_006714810
- Peptide Label: isoform X4
- UniProtKB: O14511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536015   ⟸   XM_011537713
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000444235   ⟸   ENST00000541337
RefSeq Acc Id: ENSP00000354910   ⟸   ENST00000361474
RefSeq Acc Id: ENSP00000367483   ⟸   ENST00000378238
RefSeq Acc Id: ENSP00000289422   ⟸   ENST00000289422
RefSeq Acc Id: ENSP00000289409   ⟸   ENST00000289409
RefSeq Acc Id: ENSP00000342660   ⟸   ENST00000340391
RefSeq Acc Id: ENSP00000351323   ⟸   ENST00000358522
RefSeq Acc Id: XP_047273853   ⟸   XM_047417897
- Peptide Label: isoform X2
RefSeq Acc Id: NP_001397709   ⟸   NM_001410780
- Peptide Label: isoform 8
RefSeq Acc Id: XP_054209806   ⟸   XM_054353831
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054209805   ⟸   XM_054353830
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054209807   ⟸   XM_054353832
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054209804   ⟸   XM_054353829
- Peptide Label: isoform X1
Protein Domains
EGF-like   Ig-like   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14511-F1-model_v2 AlphaFold O14511 1-850 view protein structure

Promoters
RGD ID:6812787
Promoter ID:HG_ACW:65544
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NRG2.GAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 365139,208,216 - 139,208,716 (-)MPROMDB
RGD ID:6803080
Promoter ID:HG_KWN:51251
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000289422,   ENST00000358522,   ENST00000378238,   ENST00000394770
Position:
Human AssemblyChrPosition (strand)Source
Build 365139,402,161 - 139,403,527 (-)MPROMDB
RGD ID:6870782
Promoter ID:EPDNEW_H8556
Type:initiation region
Name:NRG2_1
Description:neuregulin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8557  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,043,012 - 140,043,072EPDNEW
RGD ID:6870784
Promoter ID:EPDNEW_H8557
Type:initiation region
Name:NRG2_2
Description:neuregulin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8556  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,043,267 - 140,043,327EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7998 AgrOrtholog
COSMIC NRG2 COSMIC
Ensembl Genes ENSG00000158458 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289409 ENTREZGENE
  ENST00000289409.8 UniProtKB/Swiss-Prot
  ENST00000289422 ENTREZGENE
  ENST00000289422.11 UniProtKB/Swiss-Prot
  ENST00000340391 ENTREZGENE
  ENST00000340391.8 UniProtKB/Swiss-Prot
  ENST00000358522 ENTREZGENE
  ENST00000358522.7 UniProtKB/Swiss-Prot
  ENST00000361474 ENTREZGENE
  ENST00000361474.6 UniProtKB/Swiss-Prot
  ENST00000378238 ENTREZGENE
  ENST00000378238.5 UniProtKB/Swiss-Prot
  ENST00000541337 ENTREZGENE
  ENST00000541337.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158458 GTEx
HGNC ID HGNC:7998 ENTREZGENE
Human Proteome Map NRG2 Human Proteome Map
InterPro EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuregulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuregulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9542 UniProtKB/Swiss-Prot
NCBI Gene 9542 ENTREZGENE
OMIM 603818 OMIM
PANTHER PRO-NEUREGULIN-2, MEMBRANE-BOUND ISOFORM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuregulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31777 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F5GZS7 ENTREZGENE, UniProtKB/TrEMBL
  NRG2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3MI86_HUMAN UniProtKB/TrEMBL