Entity Details

Primary name ZNF335
Entity type gene
Source Source Link

Details

PrimaryID63925
RefseqGeneNG_029772
SymbolZNF335
Namezinc finger protein 335
Chromosome20
Location20q13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsZN335_HUMAN

GO terms

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GOName
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001701 in utero embryonic development
GO:0002052 positive regulation of neuroblast proliferation
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0007420 brain development
GO:0010468 regulation of gene expression
GO:0021895 cerebral cortex neuron differentiation
GO:0035097 histone methyltransferase complex
GO:0040029 regulation of gene expression, epigenetic
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0048812 neuron projection morphogenesis
GO:0048854 brain morphogenesis
GO:0050671 positive regulation of lymphocyte proliferation
GO:0050769 positive regulation of neurogenesis
GO:0051569 regulation of histone H3-K4 methylation
GO:0080182 histone H3-K4 trimethylation

Diseases

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Disease IDSourceNameDescription
615095 OMIMMicrocephaly 10, primary, autosomal recessive (MCPH10)A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation. The disease is caused by variants affecting the gene represented in this entry.