Entity Details

Primary name IREB2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48200
EntryNameIREB2_HUMAN
FullNameIron-responsive element-binding protein 2
TaxID9606
Evidenceevidence at protein level
Length963
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesIREB2

GO terms

Show/Hide Table
GOName
GO:0003723 RNA binding
GO:0003994 aconitate hydratase activity
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0006099 tricarboxylic acid cycle
GO:0006101 citrate metabolic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006826 iron ion transport
GO:0006879 cellular iron ion homeostasis
GO:0009791 post-embryonic development
GO:0030316 osteoclast differentiation
GO:0030350 iron-responsive element binding
GO:0030371 translation repressor activity
GO:0034101 erythrocyte homeostasis
GO:0046872 metal ion binding
GO:0050892 intestinal absorption
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0055072 iron ion homeostasis

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR000573 Aconitase A/isopropylmalate dehydratase small subunit, swivel domainDomainDomain
IPR001030 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domainDomainDomain
IPR006249 Aconitase/Iron-responsive element-binding protein 2FamilyFamily
IPR015928 Aconitase/3-isopropylmalate dehydratase, swivelFamilyHomologous superfamily
IPR015931 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3FamilyHomologous superfamily
IPR018136 Aconitase family, 4Fe-4S cluster binding siteSiteBinding site
IPR029755 Iron regulatory protein 2FamilyFamily
IPR036008 Aconitase, iron-sulfur domainFamilyHomologous superfamily
IPR044137 Aconitase A, swivel domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
618451 OMIMNeurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia (NDCAMA)An autosomal recessive disorder characterized by severe neurological and extra-neurological manifestations. Clinical features include early-onset global developmental delay, absent speech, dystonia, spasticity, choreoathetoid movement disorder, seizures, and microcytic hypochromic anaemia unresponsive to iron supplementation. The disease is caused by variants affecting the gene represented in this entry.