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ATRX and ZNF512B
Data Source:
BioGRID
(two hybrid)
ATRX
ZNF512B
Description
ATRX chromatin remodeler
zinc finger protein 512B
Image
GO Annotations
Cellular Component
Nuclear Chromosome
Condensed Chromosome, Centromeric Region
Chromosome, Telomeric Region
Heterochromatin
Nucleus
Nucleoplasm
Pericentric Heterochromatin
Nuclear Body
PML Body
Chromosome, Subtelomeric Region
Nucleoplasm
Molecular Function
DNA Binding
DNA Helicase Activity
Chromatin Binding
Protein Binding
ATP Binding
DNA Translocase Activity
Methylated Histone Binding
Histone Binding
Metal Ion Binding
Chromo Shadow Domain Binding
DNA Binding
Protein Binding
Metal Ion Binding
Biological Process
Meiotic Spindle Organization
DNA Repair
DNA Methylation
Nucleosome Assembly
DNA Replication-independent Nucleosome Assembly
Chromatin Remodeling
Regulation Of Transcription, DNA-templated
Spermatogenesis
Positive Regulation Of Nuclear Cell Cycle DNA Replication
DNA Damage Response, Signal Transduction By P53 Class Mediator
Forebrain Development
Replication Fork Processing
Positive Regulation Of Telomere Maintenance
DNA Duplex Unwinding
Post-embryonic Forelimb Morphogenesis
Multicellular Organism Growth
Positive Regulation Of Transcription By RNA Polymerase II
Sertoli Cell Development
Chromosome Organization Involved In Meiotic Cell Cycle
Protein Localization To Chromosome, Telomeric Region
Seminiferous Tubule Development
Cellular Response To Hydroxyurea
Regulation Of Histone H3-K9 Trimethylation
Negative Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter
Positive Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter
Negative Regulation Of Maintenance Of Mitotic Sister Chromatid Cohesion, Telomeric
Pathways
Inhibition of DNA recombination at telomere
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
Drugs
Diseases
Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
Non-syndromic X-linked mental retardation
46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
GWAS
Platelet count (
32888494
)
Plateletcrit (
32888494
)
Birth weight (
31043758
)
Mean platelet volume (
32888494
)
Offspring birth weight (
31043758
)
Prostate cancer (
23535732
)
Interacting Genes
27 interacting genes:
ATN1
AURKA
BLM
CALM1
CCSER2
CEP126
CREBBP
DAXX
EZH2
H3-3A
H3C14
HDAC1
HDAC4
LUC7L2
MDM2
NEK1
NSD1
PTN
PTPN4
RAD51
RASSF1
SUMO2
SVIL
TP53
WRN
ZBED1
ZNF512B
71 interacting genes:
AJUBA
ANKLE2
ANKRD28
AP1G1
APLP2
ATRX
BANP
BRD1
BTBD2
C11orf68
CDC123
CREBZF
CTBP2
DCTN1
DDX3X
DROSHA
DVL3
EHMT2
FHL3
GLRX3
GOLGA2
HEYL
HTATSF1
IL36RN
INVS
KDM2A
KDM3B
KLF10
KMT2B
L1TD1
LAMB2
LZTS2
MBD1
MDFI
MEOX2
MTUS2
MYH10
NACC1
NIBAN2
OS9
PAPPA2
PBRM1
PDE4DIP
PEG10
PIAS4
PLCG2
PPP1R15A
PTPRF
RABEP1
RPS27A
SDF4
SIAH1
SMAD1
SPTBN1
SUPT5H
TGM2
TNKS2
TOM1
TOX4
TRAF1
TRAF4
VHL
VPS35
VPS41
VWF
XPC
XRCC6
YES1
ZMYM2
ZNF143
ZYX
Entrez ID
546
57473
HPRD ID
02069
13840
Ensembl ID
ENSG00000085224
ENSG00000196700
Uniprot IDs
A4LAA3
B4DLW1
P46100
Q96KM6
PDB IDs
2JM1
2LBM
2LD1
3QL9
3QLA
3QLC
3QLN
4W5A
5GRQ
5Y18
5Y6O
6G0O
2GQJ
Enriched GO Terms of Interacting Partners
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