Entity Details

Primary name ZFHX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9C0A1
EntryNameZFHX2_HUMAN
FullNameZinc finger homeobox protein 2
TaxID9606
Evidenceevidence at protein level
Length2572
SequenceStatuscomplete
DateCreated2003-02-12
DateModified2021-06-02

Ontological Relatives

GenesZFHX2

GO terms

Show/Hide Table
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

Subcellular Location

Show/Hide Table
Subcellular Location
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR003604 Matrin/U1-C-like, C2H2-type zinc fingerDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR017970 Homeobox, conserved siteSiteConserved site
IPR027028 Zinc finger homeobox protein 2FamilyFamily
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
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.