Gene: NSD2

Basic information

Tag Content
Uniprot ID H2QP41; A0A2J8K6L6;
Entrez ID 461070
Genbank protein ID JAA36301.1; JAA17713.1; JAA28255.1; JAA11109.1;
Genbank nucleotide ID XM_009447235.2; XM_016951141.1; XM_009447234.2; XM_016951143.1; XM_016951142.1;
Ensembl protein ID ENSPTRP00000027281
Ensembl nucleotide ID ENSPTRG00000015838
Gene name Nuclear receptor binding SET domain protein 2
Gene symbol NSD2
Organism Pan troglodytes
NCBI taxa ID 9598
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 60
VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 120
SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 180
QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 240
SADPLLHSYT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 300
APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG DQLHLNPQVA 360
KEAGIAAESL GEMAESSGVG EEAAENPKSV REECIPMKRR RRAKLCSSAE TLESHPDIGK 420
STPQKTAEAD PRRGVGSPPG RKKTTVSMPR SRKGDAASQF LVFCQKHRDE VVAEHPDASG 480
EEIEELLRSQ WSLLSEKQRA RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE 540
AEDTPRKRLR TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR 600
NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE VSVSSKKSER 660
GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR PEGRFTCSEC ASGIHSCFVC 720
KESKTDVKRC VVTQCGKFYH EACVKKYPLT VFESRGFRCP LHSCVSCHAS NPSNPRPSKG 780
KMMRCVRCPV AYHSGDACLA AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG 840
GSLLCCESCP AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 900
PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG VRGIGRVFKN 960
ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY GKVQIYTADI SEIPKCNCKP 1020
TDENPCGFDS ECLNRMLMFE CHPQVCPAGE FCQNQCFTKR QYPETKIIKT DGKGWGLVAK 1080
RDIRKGEFVN EYVGELIDEE ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM 1140
NHSCQPNCET LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 1200
FLGDRPKTST TLSSEEKGKK TKKKMRRRRA KGEGKRQSED ECFRCGDGGQ LVLCDRKFCT 1260
KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP NSFCKEHQDG TAFSCTPDGR 1320
SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG KRRRRRGWRR VTEGK 1365

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologNSD2102186471A0A452E027Capra hircusPredictionMore>>
1:1 orthologNSD2A0A5F5PRN6Equus caballusPredictionMore>>
1:1 orthologNSD27468O96028Homo sapiensPredictionMore>>
1:1 orthologNsd2107823Q8BVE8CPOE13.5Mus musculusPublicationMore>>
1:1 orthologNSD2461070H2QP41Pan troglodytesPredictionMore>>
1:1 orthologNSD2F1S8S1Sus scrofaPredictionMore>>
1:1 orthologNsd2680537D4A9J4Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0000785 chromatin
GO:0005654 nucleoplasm
GO:0005634 nucleus
GO:0003682 chromatin binding
GO:0046975 histone methyltransferase activity (H3-K36 specific)
GO:0046872 metal ion binding
GO:0043565 sequence-specific DNA binding
GO:0003289 atrial septum primum morphogenesis
GO:0003290 atrial septum secundum morphogenesis
GO:0060348 bone development
GO:0034770 histone H4-K20 methylation
GO:0003149 membranous septum morphogenesis
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0048298 positive regulation of isotype switching to IgA isotypes
GO:2001032 regulation of double-strand break repair via nonhomologous end joining
GO:0070201 regulation of establishment of protein localization
GO:0006355 regulation of transcription, DNA-templated

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0175 Coiled coil
KW-0238 DNA-binding
KW-0479 Metal-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0949 S-adenosyl-L-methionine
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR006560 AWS_dom
IPR041306 C5HCH
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
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

PROSITE

PROSITE ID PROSITE Term
PS51215 AWS
PS50118 HMG_BOX_2
PS50868 POST_SET
PS50812 PWWP
PS50280 SET
PS01359 ZF_PHD_1
PS50016 ZF_PHD_2
PS50089 ZF_RING_2

Pfam

Pfam ID Pfam Term
PF17907 AWS
PF17982 C5HCH
PF00505 HMG_box
PF00855 PWWP
PF00856 SET