NWD2 (NACHT and WD repeat domain containing 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: NWD2 (NACHT and WD repeat domain containing 2) Homo sapiens
Analyze
Symbol: NWD2
Name: NACHT and WD repeat domain containing 2
RGD ID: 1603203
HGNC Page HGNC:29229
Description: FOUND IN synapse (ortholog); INTERACTS WITH 15-acetyldeoxynivalenol; avobenzone; belinostat
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC57495; KIAA1239; leucine-rich repeat and WD repeat-containing protein KIAA1239; NACHT and WD repeat domain-containing protein 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
GRCh38437,244,743 - 37,449,463 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl437,244,743 - 37,449,463 (+)EnsemblGRCh38hg38GRCh38
GRCh37437,246,365 - 37,451,085 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36436,923,085 - 37,127,482 (+)NCBINCBI36Build 36hg18NCBI36
Celera437,686,844 - 37,890,948 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef436,570,542 - 36,774,793 (+)NCBIHuRef
CHM1_1437,245,806 - 37,450,211 (+)NCBICHM1_1
T2T-CHM13v2.0437,213,081 - 37,418,202 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
synapse  (ISO)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9847074   PMID:10574462   PMID:20379614   PMID:21873635   PMID:28883622   PMID:32393512  


Genomics

Comparative Map Data
NWD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38437,244,743 - 37,449,463 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl437,244,743 - 37,449,463 (+)EnsemblGRCh38hg38GRCh38
GRCh37437,246,365 - 37,451,085 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36436,923,085 - 37,127,482 (+)NCBINCBI36Build 36hg18NCBI36
Celera437,686,844 - 37,890,948 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef436,570,542 - 36,774,793 (+)NCBIHuRef
CHM1_1437,245,806 - 37,450,211 (+)NCBICHM1_1
T2T-CHM13v2.0437,213,081 - 37,418,202 (+)NCBIT2T-CHM13v2.0
Nwd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39563,806,446 - 63,967,889 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl563,806,445 - 63,967,889 (+)EnsemblGRCm39 Ensembl
GRCm38563,649,103 - 63,810,546 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl563,649,102 - 63,810,546 (+)EnsemblGRCm38mm10GRCm38
MGSCv37564,040,342 - 64,201,785 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36563,927,566 - 64,089,681 (+)NCBIMGSCv36mm8
Celera560,947,456 - 61,108,748 (+)NCBICelera
Cytogenetic Map5C3.1NCBI
cM Map532.8NCBI
Nwd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81444,833,623 - 45,024,962 (-)NCBIGRCr8
mRatBN7.21444,480,049 - 44,671,417 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1444,482,287 - 44,670,299 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01446,136,780 - 46,153,320 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1446,136,786 - 46,153,212 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01445,936,735 - 46,351,522 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41446,978,996 - 47,036,123 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1443,620,272 - 43,814,434 (-)NCBICelera
Cytogenetic Map14p11NCBI
Nwd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554439,631,645 - 9,783,162 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554439,631,652 - 9,783,162 (-)NCBIChiLan1.0ChiLan1.0
NWD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2337,434,479 - 37,638,566 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1437,623,499 - 37,829,979 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0431,573,590 - 31,777,648 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1437,431,111 - 37,634,502 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl437,431,111 - 37,634,502 (+)Ensemblpanpan1.1panPan2
NWD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1374,660,084 - 74,835,368 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl374,662,402 - 74,835,851 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha377,207,294 - 77,381,918 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0375,441,143 - 75,616,088 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl375,443,395 - 75,616,799 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1374,707,096 - 74,881,550 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0374,854,506 - 75,028,991 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0375,232,441 - 75,407,212 (-)NCBIUU_Cfam_GSD_1.0
Nwd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528540,782,677 - 40,933,558 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364825,366,245 - 5,515,559 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364825,361,766 - 5,515,558 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NWD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl828,801,568 - 29,009,163 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1828,799,702 - 29,009,165 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2830,210,603 - 30,425,073 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NWD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12712,825,458 - 13,028,211 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604759,258,670 - 59,474,243 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nwd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248405,802,886 - 5,984,767 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248405,802,869 - 5,985,719 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NWD2
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
NM_001144990.1:c.357+74T>A single nucleotide variant Lung cancer [RCV000094715] Chr4:37356556 [GRCh38]
Chr4:37358178 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.1:c.358-12590A>G single nucleotide variant Lung cancer [RCV000094716] Chr4:37417982 [GRCh38]
Chr4:37419604 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.1:c.358-7764A>G single nucleotide variant Lung cancer [RCV000094717] Chr4:37422808 [GRCh38]
Chr4:37424430 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p14(chr4:37283110-38559285)x3 copy number gain See cases [RCV000139187] Chr4:37283110..38559285 [GRCh38]
Chr4:37284732..38560906 [GRCh37]
Chr4:36961127..38237301 [NCBI36]
Chr4:4p14		 likely pathogenic|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_001144990.2(NWD2):c.1145C>T (p.Thr382Ile) single nucleotide variant not specified [RCV004291275] Chr4:37439239 [GRCh38]
Chr4:37440861 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3425G>A (p.Gly1142Asp) single nucleotide variant not specified [RCV004317182] Chr4:37445413 [GRCh38]
Chr4:37447035 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_001144990.2(NWD2):c.433G>A (p.Asp145Asn) single nucleotide variant not specified [RCV004318274] Chr4:37430647 [GRCh38]
Chr4:37432269 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p14(chr4:37285195-38123916)x1 copy number loss not provided [RCV000743521] Chr4:37285195..38123916 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_001144990.2(NWD2):c.3171C>A (p.Ser1057Arg) single nucleotide variant not specified [RCV004291461] Chr4:37445159 [GRCh38]
Chr4:37446781 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3211G>A (p.Ala1071Thr) single nucleotide variant not specified [RCV004287967] Chr4:37445199 [GRCh38]
Chr4:37446821 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1534A>G (p.Ile512Val) single nucleotide variant not provided [RCV000961042] Chr4:37443522 [GRCh38]
Chr4:37445144 [GRCh37]
Chr4:4p14		 benign
NM_001144990.2(NWD2):c.3219A>T (p.Ala1073=) single nucleotide variant not provided [RCV000970105] Chr4:37445207 [GRCh38]
Chr4:37446829 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p14(chr4:36927519-37485664)x1 copy number loss not provided [RCV001005533] Chr4:36927519..37485664 [GRCh37]
Chr4:4p14		 likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_001144990.2(NWD2):c.3698G>A (p.Arg1233His) single nucleotide variant not specified [RCV004286275] Chr4:37445686 [GRCh38]
Chr4:37447308 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2991G>C (p.Glu997Asp) single nucleotide variant not specified [RCV004294791] Chr4:37444979 [GRCh38]
Chr4:37446601 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.17C>T (p.Ala6Val) single nucleotide variant not specified [RCV004157000] Chr4:37245084 [GRCh38]
Chr4:37246706 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.800A>G (p.Glu267Gly) single nucleotide variant not specified [RCV004238449] Chr4:37438894 [GRCh38]
Chr4:37440516 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2485G>A (p.Val829Ile) single nucleotide variant not specified [RCV004092535] Chr4:37444473 [GRCh38]
Chr4:37446095 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.391A>G (p.Ile131Val) single nucleotide variant not specified [RCV004219406] Chr4:37430605 [GRCh38]
Chr4:37432227 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.439G>A (p.Ala147Thr) single nucleotide variant not specified [RCV004237451] Chr4:37430653 [GRCh38]
Chr4:37432275 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2455T>C (p.Cys819Arg) single nucleotide variant not specified [RCV004159206] Chr4:37444443 [GRCh38]
Chr4:37446065 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.5053T>C (p.Ser1685Pro) single nucleotide variant not specified [RCV004109693] Chr4:37447041 [GRCh38]
Chr4:37448663 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4366A>G (p.Lys1456Glu) single nucleotide variant not specified [RCV004111606] Chr4:37446354 [GRCh38]
Chr4:37447976 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.305G>A (p.Arg102His) single nucleotide variant not specified [RCV004116797] Chr4:37356430 [GRCh38]
Chr4:37358052 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3974C>T (p.Pro1325Leu) single nucleotide variant not specified [RCV004123958] Chr4:37445962 [GRCh38]
Chr4:37447584 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2141G>A (p.Gly714Asp) single nucleotide variant not specified [RCV004116687] Chr4:37444129 [GRCh38]
Chr4:37445751 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4196G>A (p.Arg1399Lys) single nucleotide variant not specified [RCV004094819] Chr4:37446184 [GRCh38]
Chr4:37447806 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3749T>G (p.Met1250Arg) single nucleotide variant not specified [RCV004112188] Chr4:37445737 [GRCh38]
Chr4:37447359 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.524G>C (p.Arg175Thr) single nucleotide variant not specified [RCV004132464] Chr4:37430738 [GRCh38]
Chr4:37432360 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.322A>C (p.Asn108His) single nucleotide variant not specified [RCV004203279] Chr4:37356447 [GRCh38]
Chr4:37358069 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2174A>G (p.Lys725Arg) single nucleotide variant not specified [RCV004112252] Chr4:37444162 [GRCh38]
Chr4:37445784 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.464A>C (p.Lys155Thr) single nucleotide variant not specified [RCV004129289] Chr4:37430678 [GRCh38]
Chr4:37432300 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4483G>A (p.Val1495Met) single nucleotide variant not specified [RCV004071492] Chr4:37446471 [GRCh38]
Chr4:37448093 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4942C>T (p.Arg1648Cys) single nucleotide variant not specified [RCV004160148] Chr4:37446930 [GRCh38]
Chr4:37448552 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1621A>T (p.Ile541Leu) single nucleotide variant not specified [RCV004166648] Chr4:37443609 [GRCh38]
Chr4:37445231 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3287A>C (p.His1096Pro) single nucleotide variant not specified [RCV004134473] Chr4:37445275 [GRCh38]
Chr4:37446897 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4687G>A (p.Ala1563Thr) single nucleotide variant not specified [RCV004223960] Chr4:37446675 [GRCh38]
Chr4:37448297 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.127G>A (p.Val43Ile) single nucleotide variant not specified [RCV004154509] Chr4:37245194 [GRCh38]
Chr4:37246816 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1091C>G (p.Thr364Ser) single nucleotide variant not specified [RCV004182859] Chr4:37439185 [GRCh38]
Chr4:37440807 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.440C>T (p.Ala147Val) single nucleotide variant not specified [RCV004165068] Chr4:37430654 [GRCh38]
Chr4:37432276 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1919A>G (p.Glu640Gly) single nucleotide variant not specified [RCV004145219] Chr4:37443907 [GRCh38]
Chr4:37445529 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1885G>A (p.Val629Ile) single nucleotide variant not specified [RCV004166450] Chr4:37443873 [GRCh38]
Chr4:37445495 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_001144990.2(NWD2):c.1918G>A (p.Glu640Lys) single nucleotide variant not specified [RCV004275462] Chr4:37443906 [GRCh38]
Chr4:37445528 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1150G>A (p.Ala384Thr) single nucleotide variant not specified [RCV004252421] Chr4:37439244 [GRCh38]
Chr4:37440866 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1829C>T (p.Pro610Leu) single nucleotide variant not specified [RCV004259884] Chr4:37443817 [GRCh38]
Chr4:37445439 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3653G>T (p.Gly1218Val) single nucleotide variant not specified [RCV004270307] Chr4:37445641 [GRCh38]
Chr4:37447263 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4432G>A (p.Gly1478Arg) single nucleotide variant not specified [RCV004248076] Chr4:37446420 [GRCh38]
Chr4:37448042 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.884A>T (p.Gln295Leu) single nucleotide variant not specified [RCV004268522] Chr4:37438978 [GRCh38]
Chr4:37440600 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3125G>T (p.Cys1042Phe) single nucleotide variant not specified [RCV004262470] Chr4:37445113 [GRCh38]
Chr4:37446735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.575C>T (p.Thr192Ile) single nucleotide variant not specified [RCV004307091] Chr4:37433889 [GRCh38]
Chr4:37435511 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1678A>T (p.Ile560Phe) single nucleotide variant not specified [RCV004275440] Chr4:37443666 [GRCh38]
Chr4:37445288 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.540G>A (p.Met180Ile) single nucleotide variant not specified [RCV004251880] Chr4:37430754 [GRCh38]
Chr4:37432376 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3991A>G (p.Ile1331Val) single nucleotide variant not specified [RCV004260692] Chr4:37445979 [GRCh38]
Chr4:37447601 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1600C>T (p.His534Tyr) single nucleotide variant not specified [RCV004270965] Chr4:37443588 [GRCh38]
Chr4:37445210 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.340G>T (p.Ala114Ser) single nucleotide variant not specified [RCV004251262] Chr4:37356465 [GRCh38]
Chr4:37358087 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1180C>A (p.Leu394Ile) single nucleotide variant not specified [RCV004324814] Chr4:37439274 [GRCh38]
Chr4:37440896 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_001144990.2(NWD2):c.2907T>A (p.His969Gln) single nucleotide variant not specified [RCV004348248] Chr4:37444895 [GRCh38]
Chr4:37446517 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.695A>T (p.Tyr232Phe) single nucleotide variant not specified [RCV004361248] Chr4:37434009 [GRCh38]
Chr4:37435631 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2183C>T (p.Thr728Ile) single nucleotide variant not specified [RCV004340994] Chr4:37444171 [GRCh38]
Chr4:37445793 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2555A>G (p.Tyr852Cys) single nucleotide variant not specified [RCV004355112] Chr4:37444543 [GRCh38]
Chr4:37446165 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.456G>A (p.Leu152=) single nucleotide variant not provided [RCV003434996] Chr4:37430670 [GRCh38]
Chr4:37432292 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.4923G>C (p.Gly1641=) single nucleotide variant not provided [RCV003439289] Chr4:37446911 [GRCh38]
Chr4:37448533 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.4497G>A (p.Ser1499=) single nucleotide variant not provided [RCV003434998] Chr4:37446485 [GRCh38]
Chr4:37448107 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.657C>T (p.His219=) single nucleotide variant not provided [RCV003434997] Chr4:37433971 [GRCh38]
Chr4:37435593 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.1911C>T (p.Thr637=) single nucleotide variant not provided [RCV003439284] Chr4:37443899 [GRCh38]
Chr4:37445521 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.2775G>A (p.Leu925=) single nucleotide variant not provided [RCV003439285] Chr4:37444763 [GRCh38]
Chr4:37446385 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.2842C>T (p.Leu948=) single nucleotide variant not provided [RCV003439286] Chr4:37444830 [GRCh38]
Chr4:37446452 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.4188C>T (p.Asn1396=) single nucleotide variant not provided [RCV003439288] Chr4:37446176 [GRCh38]
Chr4:37447798 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.3576G>T (p.Val1192=) single nucleotide variant not provided [RCV003439287] Chr4:37445564 [GRCh38]
Chr4:37447186 [GRCh37]
Chr4:4p14		 likely benign
NM_001144990.2(NWD2):c.1676T>C (p.Leu559Pro) single nucleotide variant not specified [RCV004488832] Chr4:37443664 [GRCh38]
Chr4:37445286 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2117T>C (p.Leu706Ser) single nucleotide variant not specified [RCV004488835] Chr4:37444105 [GRCh38]
Chr4:37445727 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2698A>C (p.Lys900Gln) single nucleotide variant not specified [RCV004488837] Chr4:37444686 [GRCh38]
Chr4:37446308 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2879G>A (p.Arg960His) single nucleotide variant not specified [RCV004488838] Chr4:37444867 [GRCh38]
Chr4:37446489 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4579C>A (p.Leu1527Met) single nucleotide variant not specified [RCV004488843] Chr4:37446567 [GRCh38]
Chr4:37448189 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.4621A>G (p.Ile1541Val) single nucleotide variant not specified [RCV004488844] Chr4:37446609 [GRCh38]
Chr4:37448231 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.5113G>A (p.Val1705Ile) single nucleotide variant not specified [RCV004488845] Chr4:37447101 [GRCh38]
Chr4:37448723 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.555A>C (p.Arg185Ser) single nucleotide variant not specified [RCV004488846] Chr4:37430769 [GRCh38]
Chr4:37432391 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1880A>G (p.Lys627Arg) single nucleotide variant not specified [RCV004488833] Chr4:37443868 [GRCh38]
Chr4:37445490 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.2014C>G (p.Leu672Val) single nucleotide variant not specified [RCV004488834] Chr4:37444002 [GRCh38]
Chr4:37445624 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.95C>T (p.Ser32Phe) single nucleotide variant not specified [RCV004488849] Chr4:37245162 [GRCh38]
Chr4:37246784 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3144A>C (p.Glu1048Asp) single nucleotide variant not specified [RCV004488839] Chr4:37445132 [GRCh38]
Chr4:37446754 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1127A>G (p.His376Arg) single nucleotide variant not specified [RCV004488830] Chr4:37439221 [GRCh38]
Chr4:37440843 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.1644C>G (p.Asn548Lys) single nucleotide variant not specified [RCV004488831] Chr4:37443632 [GRCh38]
Chr4:37445254 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.880G>A (p.Ala294Thr) single nucleotide variant not specified [RCV004488848] Chr4:37438974 [GRCh38]
Chr4:37440596 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.3272C>T (p.Pro1091Leu) single nucleotide variant not specified [RCV004488840] Chr4:37445260 [GRCh38]
Chr4:37446882 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.350G>C (p.Cys117Ser) single nucleotide variant not specified [RCV004488841] Chr4:37356475 [GRCh38]
Chr4:37358097 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001144990.2(NWD2):c.869G>A (p.Arg290Gln) single nucleotide variant not specified [RCV004488847] Chr4:37438963 [GRCh38]
Chr4:37440585 [GRCh37]
Chr4:4p14		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:738
Count of miRNA genes:551
Interacting mature miRNAs:602
Transcripts:ENST00000309447
Prediction methods:Miranda, 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
D4S1067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,340,141 - 37,340,314UniSTSGRCh37
Build 36437,016,536 - 37,016,709RGDNCBI36
Celera437,779,975 - 37,780,148RGD
Cytogenetic Map4p14UniSTS
HuRef436,663,907 - 36,664,080UniSTS
TNG Radiation Hybrid Map420938.0UniSTS
STS-D59406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,360,710 - 37,360,854UniSTSGRCh37
Build 36437,037,105 - 37,037,249RGDNCBI36
Celera437,800,543 - 37,800,687RGD
Cytogenetic Map4p14UniSTS
HuRef436,684,478 - 36,684,622UniSTS
GeneMap99-GB4 RH Map4166.05UniSTS
NCBI RH Map4473.5UniSTS
D4S596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,282,810 - 37,283,004UniSTSGRCh37
Build 36436,959,205 - 36,959,399RGDNCBI36
Celera437,722,958 - 37,723,152RGD
Cytogenetic Map4p14UniSTS
HuRef436,606,655 - 36,606,849UniSTS
TNG Radiation Hybrid Map420878.0UniSTS
Stanford-G3 RH Map42257.0UniSTS
NCBI RH Map4472.6UniSTS
SHGC-59605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,450,829 - 37,451,016UniSTSGRCh37
Build 36437,127,224 - 37,127,411RGDNCBI36
Celera437,890,690 - 37,890,877RGD
Cytogenetic Map4p14UniSTS
HuRef436,774,535 - 36,774,722UniSTS
GeneMap99-GB4 RH Map4178.06UniSTS
NCBI RH Map4476.8UniSTS
D4S756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,404,701 - 37,404,884UniSTSGRCh37
Build 36437,081,096 - 37,081,279RGDNCBI36
Celera437,844,568 - 37,844,751RGD
Cytogenetic Map4p14UniSTS
HuRef436,728,414 - 36,728,597UniSTS
Stanford-G3 RH Map42266.0UniSTS
NCBI RH Map4474.9UniSTS
G34392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,404,715 - 37,404,890UniSTSGRCh37
Build 36437,081,110 - 37,081,285RGDNCBI36
Celera437,844,582 - 37,844,757RGD
Cytogenetic Map4p14UniSTS
HuRef436,728,428 - 36,728,603UniSTS
SHGC-8606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,449,063 - 37,449,186UniSTSGRCh37
Build 36437,125,458 - 37,125,581RGDNCBI36
Celera437,888,924 - 37,889,047RGD
Cytogenetic Map4p14UniSTS
HuRef436,772,769 - 36,772,892UniSTS
SHGC-82145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,340,363 - 37,340,652UniSTSGRCh37
Build 36437,016,758 - 37,017,047RGDNCBI36
Celera437,780,197 - 37,780,486RGD
Cytogenetic Map4p14UniSTS
HuRef436,664,129 - 36,664,418UniSTS
TNG Radiation Hybrid Map420961.0UniSTS
SHGC-148650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,360,826 - 37,361,126UniSTSGRCh37
Build 36437,037,221 - 37,037,521RGDNCBI36
Celera437,800,659 - 37,800,959RGD
Cytogenetic Map4p14UniSTS
HuRef436,684,594 - 36,684,894UniSTS
TNG Radiation Hybrid Map420982.0UniSTS
SHGC-154542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,435,606 - 37,435,898UniSTSGRCh37
Build 36437,112,001 - 37,112,293RGDNCBI36
Celera437,875,467 - 37,875,759RGD
Cytogenetic Map4p14UniSTS
HuRef436,759,312 - 36,759,604UniSTS
TNG Radiation Hybrid Map421054.0UniSTS
SHGC-155096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,359,866 - 37,360,137UniSTSGRCh37
Build 36437,036,261 - 37,036,532RGDNCBI36
Celera437,799,699 - 37,799,970RGD
Cytogenetic Map4p14UniSTS
HuRef436,683,634 - 36,683,905UniSTS
TNG Radiation Hybrid Map420992.0UniSTS
SHGC-155097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,357,744 - 37,358,022UniSTSGRCh37
Build 36437,034,139 - 37,034,417RGDNCBI36
Celera437,797,577 - 37,797,855RGD
Cytogenetic Map4p14UniSTS
HuRef436,681,512 - 36,681,790UniSTS
TNG Radiation Hybrid Map420992.0UniSTS
SHGC-34520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,360,856 - 37,361,005UniSTSGRCh37
Build 36437,037,251 - 37,037,400RGDNCBI36
Celera437,800,689 - 37,800,838RGD
Cytogenetic Map4p14UniSTS
HuRef436,684,624 - 36,684,773UniSTS
TNG Radiation Hybrid Map420992.0UniSTS
Stanford-G3 RH Map42270.0UniSTS
GeneMap99-GB4 RH Map4180.88UniSTS
Whitehead-RH Map4189.9UniSTS
NCBI RH Map4478.5UniSTS
GeneMap99-G3 RH Map42254.0UniSTS
SHGC-50334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,403,044 - 37,403,266UniSTSGRCh37
Build 36437,079,439 - 37,079,661RGDNCBI36
Celera437,842,911 - 37,843,133RGD
Cytogenetic Map4p14UniSTS
HuRef436,726,757 - 36,726,979UniSTS
TNG Radiation Hybrid Map421016.0UniSTS
SHGC-19222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,403,128 - 37,403,266UniSTSGRCh37
Build 36437,079,523 - 37,079,661RGDNCBI36
Celera437,842,995 - 37,843,133RGD
Cytogenetic Map4p14UniSTS
HuRef436,726,841 - 36,726,979UniSTS
D4S2711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,395,125 - 37,395,243UniSTSGRCh37
Build 36437,071,520 - 37,071,638RGDNCBI36
Celera437,834,992 - 37,835,110RGD
Cytogenetic Map4p14UniSTS
HuRef436,718,902 - 36,719,020UniSTS
TNG Radiation Hybrid Map421003.0UniSTS
SHGC-67692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,360,707 - 37,360,851UniSTSGRCh37
Build 36437,037,102 - 37,037,246RGDNCBI36
Celera437,800,540 - 37,800,684RGD
Cytogenetic Map4p14UniSTS
HuRef436,684,475 - 36,684,619UniSTS
GeneMap99-GB4 RH Map4179.91UniSTS
NCBI RH Map4477.3UniSTS
STS-D60378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,450,814 - 37,450,956UniSTSGRCh37
Build 36437,127,209 - 37,127,351RGDNCBI36
Celera437,890,675 - 37,890,817RGD
Cytogenetic Map4p14UniSTS
HuRef436,774,520 - 36,774,662UniSTS
GeneMap99-GB4 RH Map4168.4UniSTS
NCBI RH Map4462.9UniSTS
SHGC-50282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37437,449,058 - 37,449,162UniSTSGRCh37
Build 36437,125,453 - 37,125,557RGDNCBI36
Celera437,888,919 - 37,889,023RGD
Cytogenetic Map4p14UniSTS
HuRef436,772,764 - 36,772,868UniSTS
TNG Radiation Hybrid Map421044.0UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 2 1 9 20 3 63
Low 307 71 224 16 25 14 361 70 1343 14 58 210 2 603 99
Below cutoff 1934 1310 1172 412 501 270 2971 1461 2074 106 831 858 146 524 1884 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000309447   ⟹   ENSP00000309501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl437,244,743 - 37,449,463 (+)Ensembl
RefSeq Acc Id: NM_001144990   ⟹   NP_001138462
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38437,244,743 - 37,449,463 (+)NCBI
GRCh37437,246,690 - 37,451,087 (+)RGD
Celera437,686,844 - 37,890,948 (+)RGD
HuRef436,570,542 - 36,774,793 (+)RGD
CHM1_1437,245,806 - 37,450,211 (+)NCBI
T2T-CHM13v2.0437,213,081 - 37,418,202 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001138462 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAA86553 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000309501
  ENSP00000309501.5
GenBank Protein Q9ULI1 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001138462   ⟸   NM_001144990
- UniProtKB: A8MRU1 (UniProtKB/Swiss-Prot),   Q9ULI1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000309501   ⟸   ENST00000309447
Protein Domains
NACHT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULI1-F1-model_v2 AlphaFold Q9ULI1 1-1742 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29229 AgrOrtholog
COSMIC NWD2 COSMIC
Ensembl Genes ENSG00000174145 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000309447 ENTREZGENE
  ENST00000309447.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000174145 GTEx
HGNC ID HGNC:29229 ENTREZGENE
Human Proteome Map NWD2 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:57495 UniProtKB/Swiss-Prot
NCBI Gene 57495 ENTREZGENE
OMIM 620172 OMIM
PANTHER BETA TRANSDUCIN-RELATED PROTEIN UniProtKB/Swiss-Prot
  NACHT AND WD REPEAT DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot
PharmGKB PA145148614 PharmGKB
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP DPP6 N-terminal domain-like UniProtKB/Swiss-Prot
  SSF50978 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
UniProt A8MRU1 ENTREZGENE
  NWD2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8MRU1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-19 NWD2  NACHT and WD repeat domain containing 2  KIAA1239  KIAA1239  Symbol and/or name change 5135510 APPROVED