Entity Details

Primary name ZFHX2
Entity type gene
Source Source Link

Details

PrimaryID85446
RefseqGene
SymbolZFHX2
Namezinc finger homeobox 2
Chromosome14
Location14q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-06-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsZFHX2_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007420 brain development
GO:0008270 zinc ion binding
GO:0030534 adult behavior
GO:0045664 regulation of neuron differentiation
GO:0051930 regulation of sensory perception of pain

Diseases

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Disease IDSourceNameDescription
147430 OMIMMarsili syndrome (MARSIS)An autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

8 interactions