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CCSER2 and ATRX
Data Source:
BioGRID
(two hybrid)
HPRD
(two hybrid)
CCSER2
ATRX
Description
coiled-coil serine rich protein 2
ATRX chromatin remodeler
Image
No pdb structure
GO Annotations
Cellular Component
Cytoplasm
Microtubule Cytoskeleton
Nuclear Chromosome
Condensed Chromosome, Centromeric Region
Chromosome, Telomeric Region
Heterochromatin
Nucleus
Nucleoplasm
Pericentric Heterochromatin
Nuclear Body
PML Body
Chromosome, Subtelomeric Region
Molecular Function
Microtubule Binding
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
Biological Process
Microtubule Bundle Formation
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
Cerebrospinal P-tau181p levels (
28247064
)
Disease progression in age-related macular degeneration (adjusted for baseline) (
29346644
)
Refractive error (
32231278
)
Platelet count (
32888494
)
Plateletcrit (
32888494
)
Interacting Genes
11 interacting genes:
APP
ATRX
CRADD
EXOC1
GTF2H1
KIFAP3
MAP1LC3B
OFD1
PSMD11
STX1A
TCEA2
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
Entrez ID
54462
546
HPRD ID
13832
02069
Ensembl ID
ENSG00000107771
ENSG00000085224
Uniprot IDs
Q9H7U1
A4LAA3
B4DLW1
P46100
PDB IDs
2JM1
2LBM
2LD1
3QL9
3QLA
3QLC
3QLN
4W5A
5GRQ
5Y18
5Y6O
6G0O
Enriched GO Terms of Interacting Partners
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Tagcloud (Difference)
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Tagcloud (Intersection)
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