ZNF711 (zinc finger protein 711)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7552
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 711
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF711
Synonyms (NCBI Gene) Gene synonyms aliases
CMPX1, MRX65, MRX97, XLID97, ZNF4, ZNF5, ZNF6, Zfp711, dJ75N13.1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with cognitive disability. [provi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs199422240 A>T Pathogenic Coding sequence variant, stop gained
rs1060505032 T>- Pathogenic Frameshift variant, coding sequence variant
rs1060505033 T>C Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1555970404 ->A Likely-pathogenic Frameshift variant, coding sequence variant
rs1555974716 ->A Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(212)
miRTarBase ID miRNA Experiments Reference
MIRT017955 hsa-miR-335-5p Microarray 18185580
MIRT031177 hsa-miR-19b-3p Sequencing 20371350
MIRT031317 hsa-miR-18a-5p Sequencing 20371350
MIRT046981 hsa-miR-218-5p CLASH 23622248
MIRT043601 hsa-miR-151a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISS 32406922
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS 32406922
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISS 32406922
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 20346720, 34356104
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
314990 13128 ENSG00000147180
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y462
Protein name Zinc finger protein 711 (Zinc finger protein 6)
Protein function Transcription regulator required for brain development (PubMed:20346720). Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activated expression of genes involved
PDB 9CJA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04704 Zfx_Zfy_act 65 → 318 Zfx / Zfy transcription activation region Family
PF04704 Zfx_Zfy_act 316 → 368 Zfx / Zfy transcription activation region Family
PF00096 zf-C2H2 383 → 405 Zinc finger, C2H2 type Domain
PF13909 zf-H2C2_5 476 → 501 Domain
PF00096 zf-C2H2 505 → 527 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 590 → 613 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 619 → 641 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 676 → 698 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 704 → 727 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in neural tissues. {ECO:0000269|PubMed:20346720}.
Sequence 
MDSGGGSLGLHTPDSRMAHTMIMQDFVAGMAGTAHIDGDHIVVSVPEAVLVSDVVTDDGI
TLDHGLAAEVVHGPDIITETDVVTEGVIVPEAVLEADVAIEEDLEEDDGDHILTSELITE
TVRVPEQVFVADLVTGPNGHLEHVVQDCVSGVDSPTMVSEEVLVTNSDTETVIQAAGGVP
GSTVTIKTEDDDDDDVKSTSEDYLMISLDDVGEKLEHMGNTPLKIGSDGSQEDAKEDGFG
SEVIKVYIFKAEAEDDVEIGGTEIVTESEYTSGHSVAGVLDQSRMQREKMVYMAVKDSSQ
EEDDIRDERRVSRRYEDCQASGNTLDSALESRSSTAAQYLQICDGINTNKVLKQKAKKRR
RGETRQWQTAVIIGPDGQPLTVYPCHICTKKFKSRGFLKRHMKNHPDHLMRKKYQCTDCD
FTTNKKVSFHNHLESHKLINKVDKTHEFTEYTRRYREASPLSSNKLILRDKEPKMHKCKY
CDYETAEQGLLNRHLLAVHSKNFPHVCVECGKGFRHPSELKKHMRTHTGEKPYQCQYCIF
RCADQSNLKTHIKSKHGNNLPYKCEHCPQAFGDERELQRHLDLFQGHKTHQCPHCDHKST
NSSDLKRHIISVHTKDFPHKCEVCDKGFHRPSELKKHSDIHKGRKIHQCRHCDFKTSDPF
ILSGHILSVHTKDQPLKCKRCKRGFRQQNELKKHMKTHTGRKIYQCEYCEYSTTDASGFK
RHVISIHTKDYPHRCEFCKKGFRRPSEKNQHIMRHHKEALM
Sequence length 761
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Generic Transcription Pathway
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs1060505033 N/A
Mental Retardation, X-Linked Intellectual disability, X-linked 97 rs1603009115, rs199422240, rs1060505032, rs1060505033, rs1555970404, rs1555974716 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders X-linked complex neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Graves Ophthalmopathy Associate 36076300
Intellectual Disability Associate 34992252
Leukemia Myeloid Acute Associate 31164492
Mental Retardation X Linked Associate 19377476, 20346720