Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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349075 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Zinc finger protein 713 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ZNF713 |
SynonymsGene synonyms aliases
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- |
ChromosomeChromosome number
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7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000978 |
Function |
RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IEA |
|
GO:0006355 |
Process |
Regulation of transcription, DNA-templated |
IBA |
21873635 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IEA |
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GO:0046872 |
Function |
Metal ion binding |
IEA |
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GO:1990837 |
Function |
Sequence-specific double-stranded DNA binding |
IDA |
28473536 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q8N859 |
Protein name |
Zinc finger protein 713 |
Protein function |
May be involved in transcriptional regulation. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01352 |
KRAB |
18 → 59 |
KRAB box |
Family |
PF00096 |
zf-C2H2 |
273 → 295 |
Zinc finger, C2H2 type |
Domain |
PF00096 |
zf-C2H2 |
301 → 323 |
Zinc finger, C2H2 type |
Domain |
PF00096 |
zf-C2H2 |
329 → 351 |
Zinc finger, C2H2 type |
Domain |
PF00096 |
zf-C2H2 |
357 → 379 |
Zinc finger, C2H2 type |
Domain |
PF00096 |
zf-C2H2 |
385 → 407 |
Zinc finger, C2H2 type |
Domain |
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Sequence |
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Sequence length |
430 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
25196122 |
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