ZNF711 (zinc finger protein 711)

2014-11-01  

Identity

HGNC
ZNF711
LOCATION
Xq21.1
LOCUSID
7552
ALIAS
CMPX1,MRX65,MRX97,ZNF4,ZNF5,ZNF6,Zfp711,dJ75N13.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7552
MIM: 314990
HGNC: 13128
Ensembl: ENSG00000147180

Variants:

dbSNP: 7552
ClinVar: 7552
TCGA: ENSG00000147180
COSMIC: ZNF711

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147180ENST00000276123Q9Y462
ENSG00000147180ENST00000360700Q9Y462
ENSG00000147180ENST00000373165Q9Y462

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
349922522022Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.6
349922522022Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.6
343561042021Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.14
345210542021ZNF711 down-regulation promotes CISPLATIN resistance in epithelial ovarian cancer via interacting with JHDM2A and suppressing SLC31A1 expression.28
343561042021Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.14
345210542021ZNF711 down-regulation promotes CISPLATIN resistance in epithelial ovarian cancer via interacting with JHDM2A and suppressing SLC31A1 expression.28
324069222020Characterization of the ZFX family of transcription factors that bind downstream of the start site of CpG island promoters.19
324069222020Characterization of the ZFX family of transcription factors that bind downstream of the start site of CpG island promoters.19
279937052017Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.21
279937052017Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.21
261885162015Interactions of cullin3/KCTD5 complexes with both cytoplasmic and nuclear proteins: Evidence for a role in protein stabilization.6
261885162015Interactions of cullin3/KCTD5 complexes with both cytoplasmic and nuclear proteins: Evidence for a role in protein stabilization.6
213845592011Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).10
213845592011Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).10
203467202010A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.112

Citation

Dessen P

ZNF711 (zinc finger protein 711)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76355/css/case-report-explorer/