ZNF711 (zinc finger protein 711)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7552
Gene name Zinc finger protein 711
Gene symbol ZNF711
Synonyms (NCBI Gene)
CMPX1MRX65MRX97XLID97ZNF4ZNF5ZNF6Zfp711dJ75N13.1
Chromosome X
Chromosome location Xq21.1
Summary 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.
6
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.
212
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
314990 13128 ENSG00000147180
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs1060505033 RCV000850219
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 97 Pathogenic; Likely pathogenic rs1931281945, rs2520435923, rs1603009115, rs199422240, rs1264060719, rs1060505032, rs1060505033, rs1555970404, rs1555974716 RCV001329873
RCV005636843
RCV000010416
RCV000010417
RCV003622417
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
History of neurodevelopmental disorder Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 — Disgenet, HPO
Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability Uncertain significance; Benign; Likely benign ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Facial paralysis Facial paralysis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Graves ophthalmopathy Pubtator 36076300 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 27993705, 31691806
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability Intellectual developmental disorder Pubtator 34992252 Associate
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability Mental retardation HPO_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)