NUBP2 (NUBP iron-sulfur cluster assembly factor 2, cytosolic) - Rat Genome Database

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Gene: NUBP2 (NUBP iron-sulfur cluster assembly factor 2, cytosolic) Homo sapiens
Analyze
Symbol: NUBP2
Name: NUBP iron-sulfur cluster assembly factor 2, cytosolic
RGD ID: 1312953
HGNC Page HGNC:8042
Description: Predicted to enable iron-sulfur cluster binding activity. Predicted to be involved in iron-sulfur cluster assembly. Predicted to be located in several cellular components, including cilium; microtubule organizing center; and nucleus. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C447E6.1 (nucleotide binding protein 1 (E.coli MinD like) ); CFD1; CIAO6; cytosolic Fe-S cluster assembly factor NUBP2; homolog of yeast cytosolic Fe-S cluster deficient 1; NBP 2; NUBP1; nucleotide binding protein 2; nucleotide binding protein 2 (E.coli MinD like); nucleotide binding protein 2 (MinD homolog, E. coli); nucleotide-binding 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
GRCh38161,782,960 - 1,789,186 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,782,932 - 1,789,186 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,832,961 - 1,839,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,772,960 - 1,779,187 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,772,959 - 1,779,187NCBI
Celera162,045,211 - 2,051,474 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,755,830 - 1,762,093 (+)NCBIHuRef
CHM1_1161,832,881 - 1,839,140 (+)NCBICHM1_1
T2T-CHM13v2.0161,798,796 - 1,805,026 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
3. Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Paul VD and Lill R, Biochim Biophys Acta. 2015 Jun;1853(6):1528-39. doi: 10.1016/j.bbamcr.2014.12.018. Epub 2015 Jan 10.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:8895530   PMID:10486206   PMID:12477932   PMID:12970194   PMID:14702039   PMID:15489334   PMID:18573874   PMID:18676680   PMID:19170196   PMID:19263241   PMID:19625176  
PMID:19692168   PMID:21216879   PMID:21873635   PMID:22863883   PMID:22939629   PMID:23824909   PMID:24797263   PMID:24816252   PMID:24981860   PMID:25416956   PMID:26186194   PMID:26344197  
PMID:26638075   PMID:26972000   PMID:28298427   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28700943   PMID:28986522   PMID:29117863   PMID:29656893   PMID:29845934   PMID:29955894  
PMID:30463901   PMID:30940648   PMID:31091453   PMID:31182584   PMID:31240132   PMID:31332168   PMID:31540324   PMID:31586073   PMID:31980649   PMID:32296183   PMID:32513696   PMID:32707033  
PMID:32814769   PMID:32877691   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34709727   PMID:34732716   PMID:35256949   PMID:35337019   PMID:35384245   PMID:35439318  
PMID:35559673   PMID:35563538   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36538041   PMID:36652389   PMID:37223481   PMID:38113892  


Genomics

Comparative Map Data
NUBP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,782,960 - 1,789,186 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,782,932 - 1,789,186 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,832,961 - 1,839,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,772,960 - 1,779,187 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,772,959 - 1,779,187NCBI
Celera162,045,211 - 2,051,474 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,755,830 - 1,762,093 (+)NCBIHuRef
CHM1_1161,832,881 - 1,839,140 (+)NCBICHM1_1
T2T-CHM13v2.0161,798,796 - 1,805,026 (+)NCBIT2T-CHM13v2.0
Nubp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,101,585 - 25,105,423 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1725,101,585 - 25,105,323 (-)EnsemblGRCm39 Ensembl
GRCm381724,882,611 - 24,886,350 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,882,611 - 24,886,349 (-)EnsemblGRCm38mm10GRCm38
MGSCv371725,019,556 - 25,023,295 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,610,217 - 24,613,930 (-)NCBIMGSCv36mm8
Celera1725,409,418 - 25,413,163 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.53NCBI
Nubp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,407,743 - 14,411,428 (-)NCBIGRCr8
mRatBN7.21013,903,224 - 13,906,928 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,903,224 - 13,906,969 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,650,265 - 18,653,975 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01018,139,125 - 18,142,835 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,638,342 - 13,642,052 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01014,244,201 - 14,247,930 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,244,203 - 14,247,886 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,060,217 - 14,063,902 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,131,309 - 14,134,994 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11014,131,309 - 14,134,994 (-)NCBI
Celera1013,582,432 - 13,586,117 (-)NCBICelera
Cytogenetic Map10q12NCBI
Nubp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,483,549 - 15,486,741 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,482,916 - 15,486,830 (-)NCBIChiLan1.0ChiLan1.0
NUBP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2182,048,898 - 2,055,881 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1165,830,832 - 5,837,318 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v016405,264 - 411,626 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1161,836,186 - 1,842,752 (+)NCBIpanpan1.1PanPan1.1panPan2
NUBP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,119,332 - 39,121,869 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,119,337 - 39,122,370 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,358,237 - 40,360,777 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,435,772 - 39,438,315 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,435,775 - 39,438,277 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1639,112,469 - 39,115,008 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,085,049 - 39,087,589 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,563,512 - 39,566,056 (-)NCBIUU_Cfam_GSD_1.0
Nubp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,487,638 - 104,501,366 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366942,208,518 - 2,211,653 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366942,208,102 - 2,211,910 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUBP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl340,178,417 - 40,186,551 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1340,178,417 - 40,184,646 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,626,428 - 41,633,605 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NUBP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,687,972 - 1,697,559 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,691,565 - 1,697,562 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,388,788 - 29,394,690 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nubp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624913465,894 - 469,389 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624913465,097 - 469,663 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NUBP2
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 copy number gain See cases [RCV000052375] Chr16:1278821..1919148 [GRCh38]
Chr16:1328822..1969149 [GRCh37]
Chr16:1268823..1909150 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1 copy number loss See cases [RCV000141133] Chr16:1754785..1816283 [GRCh38]
Chr16:1804786..1866284 [GRCh37]
Chr16:1744787..1806285 [NCBI36]
Chr16:16p13.3		 benign
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_012225.4(NUBP2):c.261C>G (p.Ile87Met) single nucleotide variant not specified [RCV004302687] Chr16:1786882 [GRCh38]
Chr16:1836883 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1802232-1842516)x3 copy number gain not provided [RCV000738983] Chr16:1802232..1842516 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1804357-1842516)x3 copy number gain not provided [RCV000738984] Chr16:1804357..1842516 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1807896-1842516)x3 copy number gain not provided [RCV000738985] Chr16:1807896..1842516 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-1842516)x3 copy number gain not provided [RCV000738987] Chr16:1813658..1842516 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-1851148)x3 copy number gain not provided [RCV000738988] Chr16:1813658..1851148 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1814391-1843672)x0 copy number loss not provided [RCV000738990] Chr16:1814391..1843672 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
Single allele inversion Hereditary cancer-predisposing syndrome [RCV000850149] Chr16:1566500..2119769 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_012225.4(NUBP2):c.334G>A (p.Ala112Thr) single nucleotide variant not provided [RCV000995466] Chr16:1786955 [GRCh38]
Chr16:1836956 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.631G>A (p.Gly211Arg) single nucleotide variant not provided [RCV000995467] Chr16:1788168 [GRCh38]
Chr16:1838169 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3 copy number gain not provided [RCV000845877] Chr16:1727095..1947413 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.98C>T (p.Thr33Met) single nucleotide variant not specified [RCV004291144] Chr16:1786618 [GRCh38]
Chr16:1836619 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.612C>T (p.Ser204=) single nucleotide variant not provided [RCV000972522] Chr16:1788149 [GRCh38]
Chr16:1838150 [GRCh37]
Chr16:16p13.3		 benign
NM_012225.4(NUBP2):c.539C>T (p.Thr180Met) single nucleotide variant not provided [RCV000955501] Chr16:1787990 [GRCh38]
Chr16:1837991 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(?_1523498)_(2064447_?)del deletion Tuberous sclerosis 2 [RCV001032344] Chr16:1573499..2114448 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.599C>T (p.Thr200Met) single nucleotide variant not specified [RCV004297318] Chr16:1788050 [GRCh38]
Chr16:1838051 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_012225.4(NUBP2):c.242T>G (p.Leu81Arg) single nucleotide variant not specified [RCV004308653] Chr16:1786863 [GRCh38]
Chr16:1836864 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 copy number gain not provided [RCV002473769] Chr16:1129080..2021055 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.250G>C (p.Glu84Gln) single nucleotide variant not specified [RCV004090691] Chr16:1786871 [GRCh38]
Chr16:1836872 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.742G>A (p.Gly248Arg) single nucleotide variant not specified [RCV004224418] Chr16:1788640 [GRCh38]
Chr16:1838641 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.217G>A (p.Asp73Asn) single nucleotide variant not specified [RCV004122609] Chr16:1786838 [GRCh38]
Chr16:1836839 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.340A>G (p.Ile114Val) single nucleotide variant not specified [RCV004220664] Chr16:1787682 [GRCh38]
Chr16:1837683 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.295C>T (p.Pro99Ser) single nucleotide variant not specified [RCV004203833] Chr16:1786916 [GRCh38]
Chr16:1836917 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.307G>A (p.Val103Met) single nucleotide variant not specified [RCV004224035] Chr16:1786928 [GRCh38]
Chr16:1836929 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.731A>G (p.Gln244Arg) single nucleotide variant not specified [RCV004229141] Chr16:1788629 [GRCh38]
Chr16:1838630 [GRCh37]
Chr16:16p13.3		 likely benign
NM_012225.4(NUBP2):c.398C>T (p.Thr133Met) single nucleotide variant not specified [RCV004116541] Chr16:1787740 [GRCh38]
Chr16:1837741 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.491C>T (p.Ala164Val) single nucleotide variant not specified [RCV004229395] Chr16:1787942 [GRCh38]
Chr16:1837943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.301G>A (p.Glu101Lys) single nucleotide variant not specified [RCV004216690] Chr16:1786922 [GRCh38]
Chr16:1836923 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.758C>G (p.Ala253Gly) single nucleotide variant not specified [RCV004096358] Chr16:1788656 [GRCh38]
Chr16:1838657 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.95C>T (p.Ser32Phe) single nucleotide variant not specified [RCV004076923] Chr16:1786615 [GRCh38]
Chr16:1836616 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 copy number loss not provided [RCV003222891] Chr16:811896..2130379 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_012225.4(NUBP2):c.628G>A (p.Gly210Ser) single nucleotide variant not specified [RCV004251038] Chr16:1788165 [GRCh38]
Chr16:1838166 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.313T>C (p.Trp105Arg) single nucleotide variant not specified [RCV004316588] Chr16:1786934 [GRCh38]
Chr16:1836935 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.274G>C (p.Val92Leu) single nucleotide variant not specified [RCV004354928] Chr16:1786895 [GRCh38]
Chr16:1836896 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3 copy number gain not provided [RCV003485081] Chr16:1505227..1960381 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.750C>T (p.Pro250=) single nucleotide variant not provided [RCV003395213] Chr16:1788648 [GRCh38]
Chr16:1838649 [GRCh37]
Chr16:16p13.3		 likely benign
NM_012225.4(NUBP2):c.361G>A (p.Val121Met) single nucleotide variant not specified [RCV004496102] Chr16:1787703 [GRCh38]
Chr16:1837704 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.434T>C (p.Ile145Thr) single nucleotide variant not specified [RCV004496103] Chr16:1787776 [GRCh38]
Chr16:1837777 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.247C>T (p.Arg83Trp) single nucleotide variant not specified [RCV004496099] Chr16:1786868 [GRCh38]
Chr16:1836869 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.272C>G (p.Ser91Cys) single nucleotide variant not specified [RCV004496100] Chr16:1786893 [GRCh38]
Chr16:1836894 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.348G>C (p.Gln116His) single nucleotide variant not specified [RCV004496101] Chr16:1787690 [GRCh38]
Chr16:1837691 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.800C>G (p.Pro267Arg) single nucleotide variant not specified [RCV004496104] Chr16:1788698 [GRCh38]
Chr16:1838699 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1607916)_(2130398_?)dup duplication Tuberous sclerosis 2 [RCV004582694] Chr16:1607916..2130398 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1822222)_(2550959_?)dup duplication Developmental and epileptic encephalopathy, 1 [RCV004582753] Chr16:1822222..2550959 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.37G>A (p.Val13Ile) single nucleotide variant not specified [RCV004652604] Chr16:1786557 [GRCh38]
Chr16:1836558 [GRCh37]
Chr16:16p13.3		 likely benign
NM_012225.4(NUBP2):c.566A>G (p.Glu189Gly) single nucleotide variant not specified [RCV004652605] Chr16:1788017 [GRCh38]
Chr16:1838018 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_012225.4(NUBP2):c.548G>A (p.Arg183Gln) single nucleotide variant not specified [RCV004638816] Chr16:1787999 [GRCh38]
Chr16:1838000 [GRCh37]
Chr16:16p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6355
Count of miRNA genes:1081
Interacting mature miRNAs:1391
Transcripts:ENST00000262302, ENST00000543305, ENST00000562263, ENST00000563136, ENST00000563821, ENST00000564227, ENST00000565134, ENST00000565603, ENST00000565987, ENST00000566090, ENST00000566447, ENST00000567700, ENST00000568287, ENST00000568610, ENST00000568706, ENST00000568834, ENST00000569898
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406945344GWAS594320_HIGFBP-3 measurement QTL GWAS594320 (human)1e-11IGFBP-3 measurement1617888351788836Human
406990785GWAS639761_Htrait in response to triamcinolone acetonide, ocular hypertension QTL GWAS639761 (human)0.0000006trait in response to triamcinolone acetonide, ocular hypertension1617877881787789Human
407007745GWAS656721_HIGFBP-3 measurement QTL GWAS656721 (human)2e-17IGFBP-3 measurement1617888351788836Human
407393965GWAS1042941_HIGFBP-3 measurement QTL GWAS1042941 (human)9e-23IGFBP-3 measurement1617888351788836Human
407393966GWAS1042942_HIGF-1 measurement, IGFBP-3 measurement QTL GWAS1042942 (human)2e-21IGF-1 measurement, IGFBP-3 measurementblood insulin-like growth factor 1 level (CMO:0001297)1617888351788836Human
407158574GWAS807550_HIGF-1 measurement QTL GWAS807550 (human)2e-74IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)1617835071783508Human
407145391GWAS794367_HX-12556 measurement QTL GWAS794367 (human)2e-11X-12556 measurement1617874051787406Human
407277096GWAS926072_Hbody height QTL GWAS926072 (human)2e-24body height (VT:0001253)body height (CMO:0000106)1617852301785231Human
406972722GWAS621698_Hprotein measurement QTL GWAS621698 (human)1e-51protein measurement1617888351788836Human
407007739GWAS656715_HIGF-1 measurement QTL GWAS656715 (human)0.0000001IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)1617888351788836Human
407156671GWAS805647_Hblood protein measurement QTL GWAS805647 (human)0.000004blood protein measurementblood protein measurement (CMO:0000028)1617891331789134Human
407027327GWAS676303_Hsex hormone-binding globulin measurement QTL GWAS676303 (human)7e-09sex hormone-binding globulin measurement1617836171783618Human
407007740GWAS656716_HIGFBP-3 measurement QTL GWAS656716 (human)5e-09IGFBP-3 measurement1617888351788836Human

Markers in Region
SHGC-57507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,831,436 - 1,831,536UniSTSGRCh37
Build 36161,771,437 - 1,771,537RGDNCBI36
Celera162,043,714 - 2,043,814RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,754,333 - 1,754,433UniSTS
TNG Radiation Hybrid Map161007.0UniSTS
RH98966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,838,778 - 1,838,936UniSTSGRCh37
Build 36161,778,779 - 1,778,937RGDNCBI36
Celera162,051,060 - 2,051,218RGD
Cytogenetic Map16p13.3UniSTS
RH102238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,831,570 - 1,831,710UniSTSGRCh37
Build 36161,771,571 - 1,771,711RGDNCBI36
Celera162,043,848 - 2,043,988RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,754,467 - 1,754,607UniSTS
GeneMap99-GB4 RH Map1645.13UniSTS
RH41941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,839,008 - 1,839,152UniSTSGRCh37
Build 36161,779,009 - 1,779,153RGDNCBI36
Celera162,051,290 - 2,051,434RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,761,909 - 1,762,053UniSTS
GeneMap99-GB4 RH Map1663.48UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001284501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF118394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF439443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI196883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU189242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU680530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX446436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z36821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262302   ⟹   ENSP00000262302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,960 - 1,789,186 (+)Ensembl
Ensembl Acc Id: ENST00000562263   ⟹   ENSP00000456199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,783,853 - 1,788,150 (+)Ensembl
Ensembl Acc Id: ENST00000563136   ⟹   ENSP00000454576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,968 - 1,787,740 (+)Ensembl
Ensembl Acc Id: ENST00000563821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,784,711 - 1,786,945 (+)Ensembl
Ensembl Acc Id: ENST00000564227   ⟹   ENSP00000455739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,783,023 - 1,787,777 (+)Ensembl
Ensembl Acc Id: ENST00000565134   ⟹   ENSP00000454815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,783,007 - 1,788,613 (+)Ensembl
Ensembl Acc Id: ENST00000565603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,996 - 1,788,767 (+)Ensembl
Ensembl Acc Id: ENST00000565987   ⟹   ENSP00000455896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,990 - 1,788,726 (+)Ensembl
Ensembl Acc Id: ENST00000566090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,956 - 1,787,264 (+)Ensembl
Ensembl Acc Id: ENST00000566447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,932 - 1,787,024 (+)Ensembl
Ensembl Acc Id: ENST00000567700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,932 - 1,789,183 (+)Ensembl
Ensembl Acc Id: ENST00000568287   ⟹   ENSP00000454982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,995 - 1,788,000 (+)Ensembl
Ensembl Acc Id: ENST00000568610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,784,460 - 1,786,130 (+)Ensembl
Ensembl Acc Id: ENST00000568706   ⟹   ENSP00000460079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,784,010 - 1,788,969 (+)Ensembl
Ensembl Acc Id: ENST00000568834   ⟹   ENSP00000456928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,932 - 1,789,181 (+)Ensembl
Ensembl Acc Id: ENST00000569898   ⟹   ENSP00000456284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,782,999 - 1,788,680 (+)Ensembl
RefSeq Acc Id: NM_001284501   ⟹   NP_001271430
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,782,960 - 1,789,186 (+)NCBI
HuRef161,755,821 - 1,762,093 (+)NCBI
CHM1_1161,832,872 - 1,839,140 (+)NCBI
T2T-CHM13v2.0161,798,796 - 1,805,026 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001284502   ⟹   NP_001271431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,782,960 - 1,789,186 (+)NCBI
HuRef161,755,821 - 1,762,093 (+)NCBI
CHM1_1161,832,872 - 1,839,140 (+)NCBI
T2T-CHM13v2.0161,798,796 - 1,805,026 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012225   ⟹   NP_036357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,782,960 - 1,789,186 (+)NCBI
GRCh37161,832,931 - 1,839,192 (+)NCBI
Build 36161,772,960 - 1,779,187 (+)NCBI Archive
Celera162,045,211 - 2,051,474 (+)RGD
HuRef161,755,821 - 1,762,093 (+)NCBI
CHM1_1161,832,872 - 1,839,140 (+)NCBI
T2T-CHM13v2.0161,798,796 - 1,805,026 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104318
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,782,960 - 1,789,186 (+)NCBI
HuRef161,755,821 - 1,762,093 (+)NCBI
CHM1_1161,832,872 - 1,839,140 (+)NCBI
T2T-CHM13v2.0161,798,796 - 1,805,026 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255027   ⟹   XP_005255084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,785,024 - 1,789,186 (+)NCBI
GRCh37161,832,931 - 1,839,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522338   ⟹   XP_011520640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,784,121 - 1,789,186 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022832   ⟹   XP_016878321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,784,122 - 1,789,186 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054379353   ⟹   XP_054235328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,799,957 - 1,805,026 (+)NCBI
RefSeq Acc Id: XM_054379354   ⟹   XP_054235329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,800,497 - 1,805,026 (+)NCBI
RefSeq Acc Id: XM_054379355   ⟹   XP_054235330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0161,799,958 - 1,805,026 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001271430 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271431 (Get FASTA)   NCBI Sequence Viewer  
  NP_036357 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255084 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520640 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878321 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235330 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD45242 (Get FASTA)   NCBI Sequence Viewer  
  AAH02768 (Get FASTA)   NCBI Sequence Viewer  
  AAH08005 (Get FASTA)   NCBI Sequence Viewer  
  BAA91471 (Get FASTA)   NCBI Sequence Viewer  
  BAG37980 (Get FASTA)   NCBI Sequence Viewer  
  BAH13326 (Get FASTA)   NCBI Sequence Viewer  
  CAC36077 (Get FASTA)   NCBI Sequence Viewer  
  EAW85613 (Get FASTA)   NCBI Sequence Viewer  
  EAW85614 (Get FASTA)   NCBI Sequence Viewer  
  EAW85615 (Get FASTA)   NCBI Sequence Viewer  
  EAW85616 (Get FASTA)   NCBI Sequence Viewer  
  EAW85617 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262302
  ENSP00000262302.9
  ENSP00000454576.1
  ENSP00000454815.1
  ENSP00000454982.1
  ENSP00000455739.1
  ENSP00000455896
  ENSP00000455896.1
  ENSP00000456199.1
  ENSP00000456284.1
  ENSP00000456928.1
  ENSP00000460079.1
GenBank Protein Q9Y5Y2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036357   ⟸   NM_012225
- Peptide Label: isoform 1
- UniProtKB: D3DU80 (UniProtKB/Swiss-Prot),   Q9NWB2 (UniProtKB/Swiss-Prot),   Q9Y5Y2 (UniProtKB/Swiss-Prot),   B2RDN3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255084   ⟸   XM_005255027
- Peptide Label: isoform X2
- UniProtKB: H3BQR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271430   ⟸   NM_001284501
- Peptide Label: isoform 2
- UniProtKB: H3BQR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271431   ⟸   NM_001284502
- Peptide Label: isoform 3
- UniProtKB: B7Z6P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520640   ⟸   XM_011522338
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016878321   ⟸   XM_017022832
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000456284   ⟸   ENST00000569898
Ensembl Acc Id: ENSP00000456199   ⟸   ENST00000562263
Ensembl Acc Id: ENSP00000454576   ⟸   ENST00000563136
Ensembl Acc Id: ENSP00000455739   ⟸   ENST00000564227
Ensembl Acc Id: ENSP00000454815   ⟸   ENST00000565134
Ensembl Acc Id: ENSP00000262302   ⟸   ENST00000262302
Ensembl Acc Id: ENSP00000455896   ⟸   ENST00000565987
Ensembl Acc Id: ENSP00000454982   ⟸   ENST00000568287
Ensembl Acc Id: ENSP00000456928   ⟸   ENST00000568834
Ensembl Acc Id: ENSP00000460079   ⟸   ENST00000568706
RefSeq Acc Id: XP_054235328   ⟸   XM_054379353
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235330   ⟸   XM_054379355
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235329   ⟸   XM_054379354
- Peptide Label: isoform X2
- UniProtKB: H3BQR2 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5Y2-F1-model_v2 AlphaFold Q9Y5Y2 1-271 view protein structure

Promoters
RGD ID:6792997
Promoter ID:HG_KWN:22728
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397361
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,769,701 - 1,770,262 (+)MPROMDB
RGD ID:6793346
Promoter ID:HG_KWN:22729
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_080861,   OTTHUMT00000250510,   UC002CMR.1,   UC002CMS.1,   UC002CMT.1,   UC002CMV.1,   UC002CMX.2,   UC010BRX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,771,221 - 1,773,327 (+)MPROMDB
RGD ID:6852740
Promoter ID:EP74183
Type:initiation region
Name:HS_NUBP2
Description:Nucleotide binding protein 2 (MinD homolog, E. coli).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,772,966 - 1,773,026EPD
RGD ID:7230941
Promoter ID:EPDNEW_H21216
Type:initiation region
Name:NUBP2_1
Description:nucleotide binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,782,999 - 1,783,059EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8042 AgrOrtholog
COSMIC NUBP2 COSMIC
Ensembl Genes ENSG00000095906 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262302 ENTREZGENE
  ENST00000262302.14 UniProtKB/Swiss-Prot
  ENST00000562263.5 UniProtKB/TrEMBL
  ENST00000563136.5 UniProtKB/TrEMBL
  ENST00000564227.5 UniProtKB/TrEMBL
  ENST00000565134.5 UniProtKB/TrEMBL
  ENST00000565987 ENTREZGENE
  ENST00000565987.5 UniProtKB/TrEMBL
  ENST00000568287.5 UniProtKB/TrEMBL
  ENST00000568706.1 UniProtKB/TrEMBL
  ENST00000568834 ENTREZGENE
  ENST00000568834.5 UniProtKB/TrEMBL
  ENST00000569898.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000095906 GTEx
HGNC ID HGNC:8042 ENTREZGENE
Human Proteome Map NUBP2 Human Proteome Map
InterPro Mrp/NBP35_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mrp_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUBP2/Cfd1_eukaryotes UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YlxH/NBP35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10101 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10101 ENTREZGENE
OMIM 610779 OMIM
PANTHER CYTOSOLIC FE-S CLUSTER ASSEMBLY FACTOR NUBP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ParA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31824 PharmGKB
PROSITE MRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RDN3 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6P0 ENTREZGENE, UniProtKB/TrEMBL
  D3DU80 ENTREZGENE
  H3BMW1_HUMAN UniProtKB/TrEMBL
  H3BNF0_HUMAN UniProtKB/TrEMBL
  H3BNS4_HUMAN UniProtKB/TrEMBL
  H3BQE5_HUMAN UniProtKB/TrEMBL
  H3BQR2 ENTREZGENE, UniProtKB/TrEMBL
  H3BRE1_HUMAN UniProtKB/TrEMBL
  H3BRK5_HUMAN UniProtKB/TrEMBL
  NUBP2_HUMAN UniProtKB/Swiss-Prot
  Q9NWB2 ENTREZGENE
  Q9Y5Y2 ENTREZGENE
UniProt Secondary D3DU80 UniProtKB/Swiss-Prot
  H3BSY3 UniProtKB/TrEMBL
  Q9NWB2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-12-20 NUBP2  NUBP iron-sulfur cluster assembly factor 2, cytosolic  NUBP2  nucleotide binding protein 2  Symbol and/or name change 19259463 PROVISIONAL
2011-07-27 NUBP2  nucleotide binding protein 2  NUBP2  nucleotide binding protein 2 (MinD homolog, E. coli)  Symbol and/or name change 5135510 APPROVED