NUF2 (NUF2 component of NDC80 kinetochore complex) - Rat Genome Database

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Gene: NUF2 (NUF2 component of NDC80 kinetochore complex) Homo sapiens
Analyze
Symbol: NUF2
Name: NUF2 component of NDC80 kinetochore complex
RGD ID: 1317446
HGNC Page HGNC
Description: Predicted to be involved in kinetochore organization; mitotic spindle organization; and nuclear division. Located in cytosol; kinetochore; and nucleoplasm. Part of Ndc80 complex. Implicated in castration-resistant prostate carcinoma and pancreatic cancer. Biomarker of several diseases, including gastrointestinal system cancer (multiple); lung non-small cell carcinoma (multiple); melanoma; oral cavity carcinoma in situ; and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cancer/testis antigen 106; CDCA1; cell division cycle associated 1; cell division cycle-associated protein 1; CT106; hNuf2; hNuf2R; hsNuf2; kinetochore protein Nuf2; NDC80 kinetochore complex component NUF2; NUF2, NDC80 kinetochore complex component; NUF2, NDC80 kinetochore complex component, homolog; NUF2R
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
GRCh38.p13 Ensembl1163,266,576 - 163,355,764 (+)EnsemblGRCh38hg38GRCh38
GRCh381163,321,948 - 163,355,764 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371163,291,744 - 163,325,549 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,558,347 - 161,592,177 (+)NCBINCBI36hg18NCBI36
Build 341160,023,382 - 160,057,205NCBI
Celera1136,396,004 - 136,429,820 (+)NCBI
Cytogenetic Map1q23.3NCBI
HuRef1134,537,062 - 134,570,886 (+)NCBIHuRef
CHM1_11164,714,625 - 164,748,448 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
aldehydo-D-glucosamine  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
Deguelin  (EXP)
diazinon  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
heptanal  (EXP)
hexanal  (EXP)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
leflunomide  (EXP,ISO)
lucanthone  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
methylmercury chloride  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
nonanal  (EXP)
ochratoxin A  (ISO)
octanal  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
PCB138  (ISO)
pentanal  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
rotenone  (EXP,ISO)
serpentine asbestos  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
vincristine  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Chen X, etal., Int J Clin Exp Pathol. 2019 Apr 1;12(4):1233-1247. eCollection 2019.
2. Hayama S, etal., Cancer Res. 2006 Nov 1;66(21):10339-48. doi: 10.1158/0008-5472.CAN-06-2137.
3. Hu P, etal., Biosci Rep. 2015 Jan 14;35(1). pii: BSR20140124. doi: 10.1042/BSR20140124.
4. Hu P, etal., Int J Clin Exp Pathol. 2015 Mar 1;8(3):2638-48. eCollection 2015.
5. Kaneko N, etal., Biochem Biophys Res Commun. 2009 Dec 25;390(4):1235-40. doi: 10.1016/j.bbrc.2009.10.127. Epub 2009 Oct 28.
6. Kobayashi Y, etal., Int J Oncol. 2014 Jan;44(1):69-77. doi: 10.3892/ijo.2013.2177. Epub 2013 Nov 15.
7. Obara W, etal., Cancer Sci. 2017 Jul;108(7):1452-1457. doi: 10.1111/cas.13278. Epub 2017 Jun 23.
8. Ohnuma S, etal., Surgery. 2009 Jan;145(1):57-68. doi: 10.1016/j.surg.2008.08.010. Epub 2008 Oct 8.
9. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. RGD automated import pipeline for gene-chemical interactions
11. Sun J, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2019 May 30;39(5):591-597. doi: 10.12122/j.issn.1673-4254.2019.05.15.
12. Sun ZY, etal., J Cancer. 2020 Mar 4;11(10):2921-2934. doi: 10.7150/jca.41834. eCollection 2020.
13. Thang PM, etal., Int J Oncol. 2016 Oct;49(4):1385-93. doi: 10.3892/ijo.2016.3649. Epub 2016 Aug 5.
14. Tokuzumi A, etal., J Dermatol. 2016 Dec;43(12):1399-1405. doi: 10.1111/1346-8138.13436. Epub 2016 May 30.
15. Wang Y, etal., Int J Cancer. 2019 Aug 1;145(3):662-670. doi: 10.1002/ijc.32134. Epub 2019 Feb 4.
16. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
17. Xu W, etal., Int J Mol Med. 2019 Aug;44(2):390-404. doi: 10.3892/ijmm.2019.4239. Epub 2019 Jun 11.
Additional References at PubMed
PMID:11266451   PMID:11685532   PMID:12438418   PMID:12477932   PMID:14602875   PMID:14654001   PMID:14699129   PMID:14702039   PMID:15062103   PMID:15235793   PMID:15239953   PMID:15371340  
PMID:15489334   PMID:15548592   PMID:15713649   PMID:15961401   PMID:16169070   PMID:16565220   PMID:16710414   PMID:17043677   PMID:17081983   PMID:17129783   PMID:17353931   PMID:17535814  
PMID:18770861   PMID:19525938   PMID:19536175   PMID:19779646   PMID:19946888   PMID:20360068   PMID:20467437   PMID:20508983   PMID:21270439   PMID:21873635   PMID:21988832   PMID:22581055  
PMID:22939629   PMID:23056589   PMID:24129578   PMID:24621683   PMID:24981860   PMID:25374179   PMID:25416956   PMID:25481014   PMID:25701787   PMID:25852190   PMID:25921289   PMID:26068854  
PMID:26186194   PMID:26496610   PMID:26638075   PMID:26972000   PMID:27049259   PMID:27173435   PMID:27705803   PMID:28514442   PMID:31091453   PMID:31586073   PMID:32877691   PMID:32994395  
PMID:33001583   PMID:33173994   PMID:33277362   PMID:34079125  


Genomics

Comparative Map Data
NUF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1163,266,576 - 163,355,764 (+)EnsemblGRCh38hg38GRCh38
GRCh381163,321,948 - 163,355,764 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371163,291,744 - 163,325,549 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,558,347 - 161,592,177 (+)NCBINCBI36hg18NCBI36
Build 341160,023,382 - 160,057,205NCBI
Celera1136,396,004 - 136,429,820 (+)NCBI
Cytogenetic Map1q23.3NCBI
HuRef1134,537,062 - 134,570,886 (+)NCBIHuRef
CHM1_11164,714,625 - 164,748,448 (+)NCBICHM1_1
Nuf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,325,503 - 169,359,033 (-)NCBIGRCm39mm39
GRCm39 Ensembl1169,325,503 - 169,359,033 (-)Ensembl
GRCm381169,497,934 - 169,531,464 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,497,934 - 169,531,464 (-)EnsemblGRCm38mm10GRCm38
MGSCv371171,428,065 - 171,461,595 (-)NCBIGRCm37mm9NCBIm37
MGSCv361171,334,986 - 171,368,103 (-)NCBImm8
Celera1171,916,559 - 171,956,575 (-)NCBICelera
Cytogenetic Map1H2.3NCBI
Nuf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21381,693,675 - 81,722,765 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1381,693,598 - 81,722,766 (-)Ensembl
Rnor_6.01387,818,456 - 87,847,223 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1387,818,391 - 87,847,263 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01392,450,022 - 92,478,789 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41385,286,634 - 85,315,366 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11385,300,821 - 85,329,554 (-)NCBI
Celera1381,360,832 - 81,390,131 (-)NCBICelera
Cytogenetic Map13q24NCBI
Nuf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546213,082,047 - 13,142,944 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546213,082,874 - 13,142,709 (-)NCBIChiLan1.0ChiLan1.0
NUF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11142,538,420 - 142,572,364 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1142,538,420 - 142,572,364 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01138,743,251 - 138,777,201 (+)NCBIMhudiblu_PPA_v0panPan3
NUF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13819,574,122 - 19,599,821 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3819,574,125 - 19,599,064 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3819,631,382 - 19,659,692 (-)NCBI
ROS_Cfam_1.03819,658,875 - 19,687,209 (-)NCBI
UMICH_Zoey_3.13819,627,147 - 19,652,037 (-)NCBI
UNSW_CanFamBas_1.03819,985,502 - 20,013,790 (-)NCBI
UU_Cfam_GSD_1.03820,277,530 - 20,302,431 (-)NCBI
Nuf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344103,495,918 - 103,524,586 (-)NCBI
SpeTri2.0NW_00493648121,342,667 - 21,371,311 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl487,162,817 - 87,194,170 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1487,162,873 - 87,194,193 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2494,875,757 - 94,907,078 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12565,462,608 - 65,493,242 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2565,462,603 - 65,493,246 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605567,252,523 - 67,283,969 (-)NCBIVero_WHO_p1.0
Nuf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248261,794,084 - 1,831,009 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
AL033842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,299,359 - 163,299,517UniSTSGRCh37
Build 361161,565,983 - 161,566,141RGDNCBI36
Celera1136,403,625 - 136,403,783RGD
Cytogenetic Map1q23.3UniSTS
HuRef1134,544,688 - 134,544,846UniSTS
RH70126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371163,298,574 - 163,298,694UniSTSGRCh37
Build 361161,565,198 - 161,565,318RGDNCBI36
Celera1136,402,840 - 136,402,960RGD
Cytogenetic Map1q23.3UniSTS
HuRef1134,543,903 - 134,544,023UniSTS
GeneMap99-GB4 RH Map1592.58UniSTS
NCBI RH Map11446.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:905
Count of miRNA genes:471
Interacting mature miRNAs:515
Transcripts:ENST00000271452, ENST00000367900, ENST00000442820, ENST00000450453, ENST00000487578, ENST00000490881, ENST00000497990, ENST00000524800, ENST00000527120, ENST00000527439, ENST00000531529, ENST00000534289
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.


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 177 18 70 60 688 63 273 56 120 80 632 292 10 2
Low 1104 838 670 226 773 135 2311 249 1557 175 520 850 93 587 1336 3 1
Below cutoff 1153 2090 965 320 479 252 1675 1778 2048 162 304 468 70 1 613 1357

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000271452   ⟹   ENSP00000271452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,321,954 - 163,355,759 (+)Ensembl
RefSeq Acc Id: ENST00000367900   ⟹   ENSP00000356875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,321,935 - 163,355,764 (+)Ensembl
RefSeq Acc Id: ENST00000442820   ⟹   ENSP00000392652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,321,935 - 163,339,477 (+)Ensembl
RefSeq Acc Id: ENST00000450453   ⟹   ENSP00000403252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,321,890 - 163,336,848 (+)Ensembl
RefSeq Acc Id: ENST00000487578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,321,986 - 163,328,561 (+)Ensembl
RefSeq Acc Id: ENST00000490881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,321,964 - 163,338,093 (+)Ensembl
RefSeq Acc Id: ENST00000497990   ⟹   ENSP00000436473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,322,046 - 163,345,718 (+)Ensembl
RefSeq Acc Id: ENST00000524800   ⟹   ENSP00000436888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,321,900 - 163,355,727 (+)Ensembl
RefSeq Acc Id: ENST00000527120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,339,281 - 163,343,823 (+)Ensembl
RefSeq Acc Id: ENST00000527439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,338,015 - 163,346,240 (+)Ensembl
RefSeq Acc Id: ENST00000531529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,340,255 - 163,343,815 (+)Ensembl
RefSeq Acc Id: ENST00000534289   ⟹   ENSP00000433533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1163,266,576 - 163,336,786 (+)Ensembl
RefSeq Acc Id: NM_031423   ⟹   NP_113611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381163,321,954 - 163,355,759 (+)NCBI
GRCh371163,291,723 - 163,325,553 (+)ENTREZGENE
Build 361161,558,347 - 161,592,177 (+)NCBI Archive
HuRef1134,537,062 - 134,570,886 (+)ENTREZGENE
CHM1_11164,714,625 - 164,748,448 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145697   ⟹   NP_663735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381163,321,954 - 163,355,759 (+)NCBI
GRCh371163,291,723 - 163,325,553 (+)ENTREZGENE
Build 361161,558,347 - 161,592,177 (+)NCBI Archive
HuRef1134,537,062 - 134,570,886 (+)ENTREZGENE
CHM1_11164,714,625 - 164,748,448 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510036   ⟹   XP_011508338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381163,321,948 - 163,355,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450112   ⟹   XP_024305880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381163,322,126 - 163,355,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450113   ⟹   XP_024305881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381163,321,990 - 163,355,764 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_663735   ⟸   NM_145697
- UniProtKB: Q9BZD4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_113611   ⟸   NM_031423
- UniProtKB: Q9BZD4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011508338   ⟸   XM_011510036
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024305881   ⟸   XM_024450113
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305880   ⟸   XM_024450112
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000403252   ⟸   ENST00000450453
RefSeq Acc Id: ENSP00000433533   ⟸   ENST00000534289
RefSeq Acc Id: ENSP00000271452   ⟸   ENST00000271452
RefSeq Acc Id: ENSP00000392652   ⟸   ENST00000442820
RefSeq Acc Id: ENSP00000436473   ⟸   ENST00000497990
RefSeq Acc Id: ENSP00000436888   ⟸   ENST00000524800
RefSeq Acc Id: ENSP00000356875   ⟸   ENST00000367900

Promoters
RGD ID:6785273
Promoter ID:HG_KWN:5935
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:ENST00000367900,   OTTHUMT00000080771,   OTTHUMT00000080772,   OTTHUMT00000080773,   OTTHUMT00000080774,   OTTHUMT00000080775,   OTTHUMT00000082812,   OTTHUMT00000082814,   OTTHUMT00000082815,   OTTHUMT00000082816,   OTTHUMT00000082817,   OTTHUMT00000082818,   UC001GCP.1,   UC009WVC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361161,558,096 - 161,558,872 (+)MPROMDB
RGD ID:6857956
Promoter ID:EPDNEW_H2143
Type:initiation region
Name:NUF2_1
Description:NUF2, NDC80 kinetochore complex component
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
GRCh381163,321,957 - 163,322,017EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 copy number loss See cases [RCV000053915] Chr1:162040050..167480663 [GRCh38]
Chr1:162009840..167449900 [GRCh37]
Chr1:160276464..165716524 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
NM_031423.3(NUF2):c.939C>G (p.Ile313Met) single nucleotide variant Malignant melanoma [RCV000059972] Chr1:163345809 [GRCh38]
Chr1:163315599 [GRCh37]
Chr1:161582223 [NCBI36]
Chr1:1q23.3
not provided
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1 copy number loss not provided [RCV000849156] Chr1:163093021..168991239 [GRCh37]
Chr1:1q23.3-24.2
pathogenic
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_145697.3(NUF2):c.371T>G (p.Ile124Ser) single nucleotide variant Short stature [RCV001281100]|not provided [RCV001543618] Chr1:163336784 [GRCh38]
Chr1:163306574 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14621 AgrOrtholog
COSMIC NUF2 COSMIC
Ensembl Genes ENSG00000143228 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000271452 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356875 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392652 UniProtKB/TrEMBL
  ENSP00000403252 UniProtKB/TrEMBL
  ENSP00000433533 UniProtKB/TrEMBL
  ENSP00000436473 UniProtKB/TrEMBL
  ENSP00000436888 UniProtKB/TrEMBL
Ensembl Transcript ENST00000271452 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367900 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442820 UniProtKB/TrEMBL
  ENST00000450453 UniProtKB/TrEMBL
  ENST00000497990 UniProtKB/TrEMBL
  ENST00000524800 UniProtKB/TrEMBL
  ENST00000534289 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143228 GTEx
HGNC ID HGNC:14621 ENTREZGENE
Human Proteome Map NUF2 Human Proteome Map
InterPro Kinetochore_Nuf2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuf2_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83540 UniProtKB/Swiss-Prot
NCBI Gene 83540 ENTREZGENE
OMIM 611772 OMIM
Pfam Nuf2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162398215 PharmGKB
UniProt B1AQT3_HUMAN UniProtKB/TrEMBL
  B1AQT4_HUMAN UniProtKB/TrEMBL
  E9PKH1_HUMAN UniProtKB/TrEMBL
  E9PP32_HUMAN UniProtKB/TrEMBL
  E9PQC4_HUMAN UniProtKB/TrEMBL
  NUF2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8WU69 UniProtKB/Swiss-Prot
  Q96HJ4 UniProtKB/Swiss-Prot
  Q96Q78 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 NUF2  NUF2 component of NDC80 kinetochore complex    NDC80 kinetochore complex component NUF2  Symbol and/or name change 5135510 APPROVED
2018-08-21 NUF2  NDC80 kinetochore complex component NUF2    NUF2, NDC80 kinetochore complex component  Symbol and/or name change 5135510 APPROVED
2013-07-09 NUF2  NUF2, NDC80 kinetochore complex component    NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-08-17 NUF2  NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)  NUF2  NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED