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Protein

Histone-lysine N-methyltransferase NSD2

Gene

WHSC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.3 Publications

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi453 – 521HMG boxPROSITE-ProRule annotationAdd BLAST69
Zinc fingeri667 – 713PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri714 – 770PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri831 – 875PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri1239 – 1286PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Methyltransferase, Transferase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS03249-MONOMER.
BRENDAi2.1.1.43. 2681.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.
R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
R-HSA-5693571. Nonhomologous End-Joining (NHEJ).
R-HSA-5693607. Processing of DNA double-strand break ends.
R-HSA-69473. G2/M DNA damage checkpoint.
SIGNORiO96028.

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase NSD2 (EC:2.1.1.43)
Alternative name(s):
Multiple myeloma SET domain-containing protein
Short name:
MMSET
Nuclear SET domain-containing protein 2
Short name:
NSD2
Protein trithorax-5
Wolf-Hirschhorn syndrome candidate 1 protein
Short name:
WHSC1
Gene namesi
Name:WHSC1
Synonyms:KIAA1090, MMSET, NSD2, TRX5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:12766. WHSC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH.

WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. WHSC1 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems.

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi7468.
OpenTargetsiENSG00000109685.
Orphaneti280. Wolf-Hirschhorn syndrome.
PharmGKBiPA37369.

Chemistry databases

ChEMBLiCHEMBL3108645.

Polymorphism and mutation databases

BioMutaiWHSC1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002595191 – 1365Histone-lysine N-methyltransferase NSD2Add BLAST1365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphothreonineCombined sources1
Modified residuei114PhosphothreonineCombined sources1
Modified residuei121PhosphoserineCombined sources1
Modified residuei172PhosphoserineCombined sources1
Modified residuei376PhosphoserineCombined sources1
Modified residuei422PhosphothreonineCombined sources1
Modified residuei544PhosphothreonineCombined sources1
Modified residuei614PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO96028.
MaxQBiO96028.
PaxDbiO96028.
PeptideAtlasiO96028.
PRIDEiO96028.

PTM databases

iPTMnetiO96028.
PhosphoSitePlusiO96028.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000109685.
ExpressionAtlasiO96028. baseline and differential.
GenevisibleiO96028. HS.

Organism-specific databases

HPAiCAB068246.
CAB068247.
HPA015801.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ARP102755EBI-2693298,EBI-608057

Protein-protein interaction databases

BioGridi113306. 65 interactors.
DIPiDIP-57224N.
IntActiO96028. 3 interactors.
MINTiMINT-7103764.
STRINGi9606.ENSP00000372347.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LSUX-ray2.14A/B973-1203[»]
ProteinModelPortaliO96028.
SMRiO96028.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini222 – 286PWWP 1PROSITE-ProRule annotationAdd BLAST65
Domaini880 – 942PWWP 2PROSITE-ProRule annotationAdd BLAST63
Domaini1011 – 1061AWSPROSITE-ProRule annotationAdd BLAST51
Domaini1063 – 1180SETPROSITE-ProRule annotationAdd BLAST118
Domaini1187 – 1203Post-SETPROSITE-ProRule annotationAdd BLAST17

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.PROSITE-ProRule annotation
Contains 1 AWS domain.PROSITE-ProRule annotation
Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation
Contains 4 PHD-type zinc fingers.PROSITE-ProRule annotation
Contains 1 post-SET domain.PROSITE-ProRule annotation
Contains 2 PWWP domains.PROSITE-ProRule annotation
Contains 1 SET domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri667 – 713PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri714 – 770PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri831 – 875PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri1239 – 1286PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1081. Eukaryota.
COG2940. LUCA.
GeneTreeiENSGT00780000121845.
HOGENOMiHOG000230892.
HOVERGENiHBG053345.
InParanoidiO96028.
KOiK11424.
OMAiQKNQSAT.
OrthoDBiEOG091G00XD.
PhylomeDBiO96028.
TreeFamiTF329088.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
3.30.40.10. 3 hits.
InterProiIPR006560. AWS_dom.
IPR009071. HMG_box_dom.
IPR003616. Post-SET_dom.
IPR000313. PWWP_dom.
IPR001214. SET_dom.
IPR019786. Zinc_finger_PHD-type_CS.
IPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF00855. PWWP. 2 hits.
PF00856. SET. 1 hit.
[Graphical view]
SMARTiSM00570. AWS. 1 hit.
SM00398. HMG. 1 hit.
SM00249. PHD. 4 hits.
SM00508. PostSET. 1 hit.
SM00293. PWWP. 2 hits.
SM00184. RING. 2 hits.
SM00317. SET. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
SSF57903. SSF57903. 3 hits.
PROSITEiPS51215. AWS. 1 hit.
PS50118. HMG_BOX_2. 1 hit.
PS50868. POST_SET. 1 hit.
PS50812. PWWP. 2 hits.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 2 hits.
PS50016. ZF_PHD_2. 2 hits.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O96028-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK
60 70 80 90 100
AQLSSSLQEG VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF
110 120 130 140 150
ESQEMKGIGT PPNTTPIKNG SPEIKLKITK TYMNGKPLFE SSICGDSAAD
160 170 180 190 200
VSQSEENGQK PENKARRNRK RSIKYDSLLE QGLVEAALVS KISSPSDKKI
210 220 230 240 250
PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV SADPLLHSYT
260 270 280 290 300
KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ
310 320 330 340 350
APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG
360 370 380 390 400
DQLHLNPQVA KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR
410 420 430 440 450
RRAKLCSSAE TLESHPDIGK STPQKTAEAD PRRGVGSPPG RKKTTVSMPR
460 470 480 490 500
SRKGDAASQF LVFCQKHRDE VVAEHPDASG EEIEELLRSQ WSLLSEKQRA
510 520 530 540 550
RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE AEDTPRKRLR
560 570 580 590 600
TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR
610 620 630 640 650
NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE
660 670 680 690 700
VSVSSKKSER GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR
710 720 730 740 750
PEGRFTCSEC ASGIHSCFVC KESKTDVKRC VVTQCGKFYH EACVKKYPLT
760 770 780 790 800
VFESRGFRCP LHSCVSCHAS NPSNPRPSKG KMMRCVRCPV AYHSGDACLA
810 820 830 840 850
AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG GSLLCCESCP
860 870 880 890 900
AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH
910 920 930 940 950
PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG
960 970 980 990 1000
VRGIGRVFKN ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY
1010 1020 1030 1040 1050
GKVQIYTADI SEIPKCNCKP TDENPCGFDS ECLNRMLMFE CHPQVCPAGE
1060 1070 1080 1090 1100
FCQNQCFTKR QYPETKIIKT DGKGWGLVAK RDIRKGEFVN EYVGELIDEE
1110 1120 1130 1140 1150
ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM NHSCQPNCET
1160 1170 1180 1190 1200
LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG
1210 1220 1230 1240 1250
FLGDRPKTST TLSSEEKGKK TKKKTRRRRA KGEGKRQSED ECFRCGDGGQ
1260 1270 1280 1290 1300
LVLCDRKFCT KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP
1310 1320 1330 1340 1350
NSFCKEHQDG TAFSCTPDGR SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG
1360
KRRRRRGWRR VTEGK
Length:1,365
Mass (Da):152,258
Last modified:May 1, 1999 - v1
Checksum:i7B3128E1FA893AAA
GO
Isoform 2 (identifier: O96028-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-652: Missing.
     653-712: VSSKKSERGV...GRFTCSECAS → MAGSFCWRML...SLHPFFNFLL

Show »
Length:713
Mass (Da):80,777
Checksum:iA48D9FB6E1D06EB3
GO
Isoform 3 (identifier: O96028-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     628-647: VSDSPGDEPSESPYESADET → LLWEPTPVKLDLNPAALYCT
     648-1365: Missing.

Show »
Length:647
Mass (Da):71,410
Checksum:i84D0A99908BD7674
GO
Isoform 4 (identifier: O96028-4) [UniParc]FASTAAdd to basket
Also known as: RE-IIBP, IL-5 promoter REII-region-binding protein

The sequence of this isoform differs from the canonical sequence as follows:
     1-781: Missing.

Show »
Length:584
Mass (Da):66,387
Checksum:iDEA3DCB455993E56
GO
Isoform 5 (identifier: O96028-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     629-629: S → K
     630-1365: Missing.

Show »
Length:629
Mass (Da):69,398
Checksum:iEC79BB4E13F1FA93
GO
Isoform 6 (identifier: O96028-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     472-484: VAEHPDASGEEIE → STKLCFMLASFRI
     485-1365: Missing.

Note: No experimental confirmation available.
Show »
Length:484
Mass (Da):53,484
Checksum:i80778F7E2CFB5C35
GO
Isoform 7 (identifier: O96028-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-273: QKKSARQYHVQFFGDAPER → IFKSKKFEHLKTSQIVLKD
     274-1365: Missing.

Show »
Length:273
Mass (Da):30,199
Checksum:iB8091D5246B40A60
GO

Sequence cautioni

The sequence BAA83042 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti210T → A in AAU09264 (PubMed:15677557).Curated1
Isoform 2 (identifier: O96028-2)
Sequence conflicti26M → V in BAA83042 (PubMed:10470851).Curated1
Sequence conflicti26M → V in AAI52413 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0214131 – 781Missing in isoform 4. 2 PublicationsAdd BLAST781
Alternative sequenceiVSP_0214141 – 652Missing in isoform 2. 2 PublicationsAdd BLAST652
Alternative sequenceiVSP_021415255 – 273QKKSA…DAPER → IFKSKKFEHLKTSQIVLKD in isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_021416274 – 1365Missing in isoform 7. 1 PublicationAdd BLAST1092
Alternative sequenceiVSP_021417472 – 484VAEHP…GEEIE → STKLCFMLASFRI in isoform 6. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_021418485 – 1365Missing in isoform 6. 1 PublicationAdd BLAST881
Alternative sequenceiVSP_021419628 – 647VSDSP…SADET → LLWEPTPVKLDLNPAALYCT in isoform 3. 4 PublicationsAdd BLAST20
Alternative sequenceiVSP_021420629S → K in isoform 5. 1 Publication1
Alternative sequenceiVSP_021421630 – 1365Missing in isoform 5. 1 PublicationAdd BLAST736
Alternative sequenceiVSP_021422648 – 1365Missing in isoform 3. 4 PublicationsAdd BLAST718
Alternative sequenceiVSP_021423653 – 712VSSKK…SECAS → MAGSFCWRMLGLVSKVGNRA RCFSSMAASEEELLDFSGSE LQFNSCSLHLSLHPFFNFLL in isoform 2. 2 PublicationsAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071593 mRNA. Translation: AAC24150.1.
AF071594 mRNA. Translation: AAC24151.1.
AF083386 mRNA. Translation: AAD19343.1.
AF083387 mRNA. Translation: AAD21770.1.
AF083388 mRNA. Translation: AAD21771.1.
AF083389 mRNA. Translation: AAD19344.1.
AF083390 mRNA. Translation: AAD19345.1.
AF083391 mRNA. Translation: AAD19346.1.
AF178206
, AF178199, AF178198, AF178202, AF178204, AF178205, AF178203, AF178201, AF178200 Genomic DNA. Translation: AAF23369.1.
AF178219
, AF178198, AF178199, AF178200, AF178202, AF178204, AF178207, AF178216, AF178215, AF178214, AF178213, AF178212, AF178211, AF178210, AF178209, AF178208, AF178218, AF178217, AF178205, AF178203, AF178201 Genomic DNA. Translation: AAF23370.1.
AF330040 mRNA. Translation: AAK00344.1.
AY694128 mRNA. Translation: AAU09264.1.
AJ007042 mRNA. Translation: CAB45386.1.
AB029013 mRNA. Translation: BAA83042.2. Different initiation.
AK289697 mRNA. Translation: BAF82386.1.
AC105448 Genomic DNA. No translation available.
AL132868 Genomic DNA. Translation: CAM15220.1.
AL132868 Genomic DNA. Translation: CAM15221.1.
AL132868 Genomic DNA. Translation: CAM15222.1.
CH471131 Genomic DNA. Translation: EAW82548.1.
CH471131 Genomic DNA. Translation: EAW82552.1.
CH471131 Genomic DNA. Translation: EAW82557.1.
CH471131 Genomic DNA. Translation: EAW82553.1.
CH471131 Genomic DNA. Translation: EAW82556.1.
BC052254 mRNA. Translation: AAH52254.1.
BC070176 mRNA. Translation: AAH70176.1.
BC094825 mRNA. Translation: AAH94825.2.
BC141815 mRNA. Translation: AAI41816.1.
BC152412 mRNA. Translation: AAI52413.1.
CCDSiCCDS3356.1. [O96028-3]
CCDS33940.1. [O96028-1]
CCDS46999.1. [O96028-5]
RefSeqiNP_001035889.1. NM_001042424.2. [O96028-1]
NP_015627.1. NM_007331.1. [O96028-5]
NP_579877.1. NM_133330.2. [O96028-1]
NP_579878.1. NM_133331.2. [O96028-1]
NP_579889.1. NM_133334.2. [O96028-3]
NP_579890.1. NM_133335.3. [O96028-1]
XP_005248058.1. XM_005248001.3. [O96028-1]
XP_005248062.1. XM_005248005.2. [O96028-3]
XP_006713977.1. XM_006713914.3. [O96028-3]
XP_011511859.1. XM_011513557.2. [O96028-1]
XP_011511862.1. XM_011513560.2. [O96028-4]
XP_016864076.1. XM_017008587.1. [O96028-4]
XP_016864077.1. XM_017008588.1. [O96028-4]
UniGeneiHs.113876.

Genome annotation databases

EnsembliENST00000312087; ENSP00000308780; ENSG00000109685. [O96028-3]
ENST00000353275; ENSP00000329167; ENSG00000109685. [O96028-3]
ENST00000382888; ENSP00000372344; ENSG00000109685. [O96028-2]
ENST00000382891; ENSP00000372347; ENSG00000109685. [O96028-1]
ENST00000382892; ENSP00000372348; ENSG00000109685. [O96028-1]
ENST00000382895; ENSP00000372351; ENSG00000109685. [O96028-1]
ENST00000398261; ENSP00000381311; ENSG00000109685. [O96028-3]
ENST00000420906; ENSP00000399251; ENSG00000109685. [O96028-5]
ENST00000436793; ENSP00000416725; ENSG00000109685. [O96028-7]
ENST00000503128; ENSP00000425761; ENSG00000109685. [O96028-3]
ENST00000508803; ENSP00000423972; ENSG00000109685. [O96028-1]
ENST00000512700; ENSP00000427516; ENSG00000109685. [O96028-7]
ENST00000514045; ENSP00000421681; ENSG00000109685. [O96028-5]
GeneIDi7468.
KEGGihsa:7468.
UCSCiuc003gdy.2. human. [O96028-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071593 mRNA. Translation: AAC24150.1.
AF071594 mRNA. Translation: AAC24151.1.
AF083386 mRNA. Translation: AAD19343.1.
AF083387 mRNA. Translation: AAD21770.1.
AF083388 mRNA. Translation: AAD21771.1.
AF083389 mRNA. Translation: AAD19344.1.
AF083390 mRNA. Translation: AAD19345.1.
AF083391 mRNA. Translation: AAD19346.1.
AF178206
, AF178199, AF178198, AF178202, AF178204, AF178205, AF178203, AF178201, AF178200 Genomic DNA. Translation: AAF23369.1.
AF178219
, AF178198, AF178199, AF178200, AF178202, AF178204, AF178207, AF178216, AF178215, AF178214, AF178213, AF178212, AF178211, AF178210, AF178209, AF178208, AF178218, AF178217, AF178205, AF178203, AF178201 Genomic DNA. Translation: AAF23370.1.
AF330040 mRNA. Translation: AAK00344.1.
AY694128 mRNA. Translation: AAU09264.1.
AJ007042 mRNA. Translation: CAB45386.1.
AB029013 mRNA. Translation: BAA83042.2. Different initiation.
AK289697 mRNA. Translation: BAF82386.1.
AC105448 Genomic DNA. No translation available.
AL132868 Genomic DNA. Translation: CAM15220.1.
AL132868 Genomic DNA. Translation: CAM15221.1.
AL132868 Genomic DNA. Translation: CAM15222.1.
CH471131 Genomic DNA. Translation: EAW82548.1.
CH471131 Genomic DNA. Translation: EAW82552.1.
CH471131 Genomic DNA. Translation: EAW82557.1.
CH471131 Genomic DNA. Translation: EAW82553.1.
CH471131 Genomic DNA. Translation: EAW82556.1.
BC052254 mRNA. Translation: AAH52254.1.
BC070176 mRNA. Translation: AAH70176.1.
BC094825 mRNA. Translation: AAH94825.2.
BC141815 mRNA. Translation: AAI41816.1.
BC152412 mRNA. Translation: AAI52413.1.
CCDSiCCDS3356.1. [O96028-3]
CCDS33940.1. [O96028-1]
CCDS46999.1. [O96028-5]
RefSeqiNP_001035889.1. NM_001042424.2. [O96028-1]
NP_015627.1. NM_007331.1. [O96028-5]
NP_579877.1. NM_133330.2. [O96028-1]
NP_579878.1. NM_133331.2. [O96028-1]
NP_579889.1. NM_133334.2. [O96028-3]
NP_579890.1. NM_133335.3. [O96028-1]
XP_005248058.1. XM_005248001.3. [O96028-1]
XP_005248062.1. XM_005248005.2. [O96028-3]
XP_006713977.1. XM_006713914.3. [O96028-3]
XP_011511859.1. XM_011513557.2. [O96028-1]
XP_011511862.1. XM_011513560.2. [O96028-4]
XP_016864076.1. XM_017008587.1. [O96028-4]
XP_016864077.1. XM_017008588.1. [O96028-4]
UniGeneiHs.113876.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LSUX-ray2.14A/B973-1203[»]
ProteinModelPortaliO96028.
SMRiO96028.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113306. 65 interactors.
DIPiDIP-57224N.
IntActiO96028. 3 interactors.
MINTiMINT-7103764.
STRINGi9606.ENSP00000372347.

Chemistry databases

ChEMBLiCHEMBL3108645.

PTM databases

iPTMnetiO96028.
PhosphoSitePlusiO96028.

Polymorphism and mutation databases

BioMutaiWHSC1.

Proteomic databases

EPDiO96028.
MaxQBiO96028.
PaxDbiO96028.
PeptideAtlasiO96028.
PRIDEiO96028.

Protocols and materials databases

DNASUi7468.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312087; ENSP00000308780; ENSG00000109685. [O96028-3]
ENST00000353275; ENSP00000329167; ENSG00000109685. [O96028-3]
ENST00000382888; ENSP00000372344; ENSG00000109685. [O96028-2]
ENST00000382891; ENSP00000372347; ENSG00000109685. [O96028-1]
ENST00000382892; ENSP00000372348; ENSG00000109685. [O96028-1]
ENST00000382895; ENSP00000372351; ENSG00000109685. [O96028-1]
ENST00000398261; ENSP00000381311; ENSG00000109685. [O96028-3]
ENST00000420906; ENSP00000399251; ENSG00000109685. [O96028-5]
ENST00000436793; ENSP00000416725; ENSG00000109685. [O96028-7]
ENST00000503128; ENSP00000425761; ENSG00000109685. [O96028-3]
ENST00000508803; ENSP00000423972; ENSG00000109685. [O96028-1]
ENST00000512700; ENSP00000427516; ENSG00000109685. [O96028-7]
ENST00000514045; ENSP00000421681; ENSG00000109685. [O96028-5]
GeneIDi7468.
KEGGihsa:7468.
UCSCiuc003gdy.2. human. [O96028-1]

Organism-specific databases

CTDi7468.
DisGeNETi7468.
GeneCardsiWHSC1.
GeneReviewsiWHSC1.
HGNCiHGNC:12766. WHSC1.
HPAiCAB068246.
CAB068247.
HPA015801.
MIMi602952. gene.
neXtProtiNX_O96028.
OpenTargetsiENSG00000109685.
Orphaneti280. Wolf-Hirschhorn syndrome.
PharmGKBiPA37369.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1081. Eukaryota.
COG2940. LUCA.
GeneTreeiENSGT00780000121845.
HOGENOMiHOG000230892.
HOVERGENiHBG053345.
InParanoidiO96028.
KOiK11424.
OMAiQKNQSAT.
OrthoDBiEOG091G00XD.
PhylomeDBiO96028.
TreeFamiTF329088.

Enzyme and pathway databases

BioCyciZFISH:HS03249-MONOMER.
BRENDAi2.1.1.43. 2681.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.
R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
R-HSA-5693571. Nonhomologous End-Joining (NHEJ).
R-HSA-5693607. Processing of DNA double-strand break ends.
R-HSA-69473. G2/M DNA damage checkpoint.
SIGNORiO96028.

Miscellaneous databases

ChiTaRSiWHSC1. human.
GeneWikiiWHSC1.
GenomeRNAii7468.
PROiO96028.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109685.
ExpressionAtlasiO96028. baseline and differential.
GenevisibleiO96028. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
3.30.40.10. 3 hits.
InterProiIPR006560. AWS_dom.
IPR009071. HMG_box_dom.
IPR003616. Post-SET_dom.
IPR000313. PWWP_dom.
IPR001214. SET_dom.
IPR019786. Zinc_finger_PHD-type_CS.
IPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF00855. PWWP. 2 hits.
PF00856. SET. 1 hit.
[Graphical view]
SMARTiSM00570. AWS. 1 hit.
SM00398. HMG. 1 hit.
SM00249. PHD. 4 hits.
SM00508. PostSET. 1 hit.
SM00293. PWWP. 2 hits.
SM00184. RING. 2 hits.
SM00317. SET. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
SSF57903. SSF57903. 3 hits.
PROSITEiPS51215. AWS. 1 hit.
PS50118. HMG_BOX_2. 1 hit.
PS50868. POST_SET. 1 hit.
PS50812. PWWP. 2 hits.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 2 hits.
PS50016. ZF_PHD_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNSD2_HUMAN
AccessioniPrimary (citable) accession number: O96028
Secondary accession number(s): A2A2T2
, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 1, 1999
Last modified: November 30, 2016
This is version 153 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.