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KMT2B and SMN1
Data Source:
BioGRID
(two hybrid)
KMT2B
SMN1
Description
lysine methyltransferase 2B
survival of motor neuron 1, telomeric
Image
GO Annotations
Cellular Component
Nucleus
Nucleoplasm
Histone Methyltransferase Complex
Nucleus
Nucleoplasm
Cytoplasm
Cytosol
Cajal Body
Nuclear Body
Z Disc
Axon
SMN Complex
SMN-Sm Protein Complex
Cytoplasmic Ribonucleoprotein Granule
Neuron Projection
Perikaryon
Gemini Of Coiled Bodies
Molecular Function
Protein Binding
Zinc Ion Binding
Histone Methyltransferase Activity (H3-K4 Specific)
Unmethylated CpG Binding
RNA Binding
Protein Binding
Identical Protein Binding
Biological Process
Histone H3-K4 Dimethylation
Regulation Of Megakaryocyte Differentiation
Positive Regulation Of Transcription, DNA-templated
Histone H3-K4 Methylation
Histone H3-K4 Monomethylation
Spliceosomal Complex Assembly
Spliceosomal SnRNP Assembly
DNA-templated Transcription, Termination
Nervous System Development
Import Into Nucleus
Pathways
PKMTs methylate histone lysines
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
snRNP Assembly
Drugs
Nusinersen
Diseases
Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
GWAS
Brain morphology (MOSTest) (
32665545
)
Eosinophil percentage of white cells (
32888494
)
Refractive error (
32231278
)
Interacting Genes
27 interacting genes:
ANXA1
ANXA7
ASH2L
ATP1B1
ATXN1
CDKN1A
GRB7
H3C1
H3C14
MTDH
NREP
PIK3R3
PIN1
PRPF40A
RAP1B
RBBP5
RCC1
RPP14
SEPTIN8
SMAD3
SMARCB1
SMN1
TK1
TRIM55
TRIM63
TSC22D1
ZNF512B
165 interacting genes:
A1BG
A2M
ACTB
ACTL6B
ADAMTS10
AGAP1
ANXA2
APLP1
ARFGAP1
ATP5F1B
ATP6V1A
BAG6
BCL2
BLOC1S6
BYSL
C9orf72
CARHSP1
CCDC90B
CENPB
CHTOP
COIL
COL4A2
COL4A5
COPS6
CPNE6
CRIP2
CSAD
DDAH2
DDX20
DHX9
DMPK
DOCK7
DUS2
DYNC1I1
EEF1A1
EEF1A2
EHHADH
EIF3G
EXT2
EZH2
FAM20C
FAM9B
FBL
FGB
FLAD1
FNDC11
FUBP1
GAPDH
GAR1
GDF9
GEMIN2
GEMIN5
GEMIN7
H3-4
HADHB
HMGXB3
HNRNPR
HNRNPU
HNRNPUL1
IGHM
ILF3
IMMT
INPP5K
IQUB
ITCH
JADE1
KDM1A
KIF5A
KLHL5
KMT2B
KPNB1
KRTAP19-6
KRTAP19-7
KRTAP21-2
KRTAP6-1
KRTAP6-2
LENG8
LRIF1
LSM1
LSM10
LSM11
LSM2
LSM3
LSM4
LSM5
LSM6
LSM7
MAGED1
MAST2
MED31
MKI67
MPP1
MRPL37
MSH2
NGFR
NKIRAS2
NMT2
NRN1
NTAQ1
OSTF1
PDE4DIP
PKM
PLXNA3
POLR1C
POLR2A
POP7
PPIG
PSME1
QARS1
RBBP4
RBBP6
RBFOX2
RBM48
REX1BD
RN7SL1
RNU1-1
RNU11
RNU2-1
RNU4-1
RPL13
RPS2
RXRA
SCARNA1
SDF4
SELENOW
SEMA5B
SETDB1
SMC5
SMN2
SNORA81
SNRPB
SNRPD1
SNRPD2
SNRPD3
SNRPE
SNU13
SNUPN
SP110
SPANXN2
STRAP
STXBP2
STXBP3
SULT1A3
SUMO3
SYNCRIP
TAF1C
TERC
TIAL1
TLE1
TMSB4X
TP53
TRMT2A
TUBA1A
TUBB3
UCHL1
UNC119
USP4
VPS28
WDR18
WDR73
WIZ
ZBTB16
ZNF431
ZRANB2
ZXDC
Entrez ID
9757
6606
HPRD ID
06017
02646
Ensembl ID
ENSG00000272333
ENSG00000172062
Uniprot IDs
Q9UMN6
B4DP61
E7EQZ4
Q16637
PDB IDs
3UVM
4ERZ
4PZI
7BRE
1G5V
1MHN
2LEH
4A4E
4A4G
4GLI
4QQ6
5XJL
5XJQ
5XJR
5XJS
5XJT
5XJU
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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