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filaggrin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

2312

PubChem

2312

Alliance of Genome Resources

HGNC:3748

Annotation

Keyword

3D-structure
Calcium
Citrullination
Coiled coil
Developmental protein
Direct protein sequencing
Ichthyosis
Metal-binding
Phosphoprotein
Proteomics identification
Reference proteome
Repeat

Proteins

Displaying 1 entry
UniProt	Protein Name
P20930

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
peptide cross-linking	IDA	7543090
keratinocyte differentiation	TAS	17704059
establishment of skin barrier	IEP	23403047
establishment of skin barrier	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

macromolecule modification [inference]

protein modification process [inference]

peptide cross-linking

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

peptide cross-linking

cellular process [inference]

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

developmental process [inference]

anatomical structure development [inference]

tissue development [inference]

epidermis development [inference]

skin epidermis development [inference]

establishment of skin barrier

epithelium development [inference]

skin epidermis development [inference]

establishment of skin barrier

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
cornified envelope	IDA	7543090
cornified envelope	IBA
nucleus	HDA	21630459
cytosol	TAS
keratohyalin granule	IDA	12850301 1429717

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane [inference]

plasma membrane [inference]

cornified envelope

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

keratohyalin granule

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule

supramolecular complex [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule

Displaying **all 4** entries
GO Term	Evidence Code	PMID
calcium ion binding	IEA
protein binding	IPI	23629652
structural constituent of skin epidermis	IDA	7543090
transition metal ion binding	IEA

GO Hierarchy

molecular function

structural molecule activity [inference]

structural constituent of skin epidermis

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

filaggrin

Functional Category

C: Energy production and conversion
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
calcium ion binding
establishment of skin barrier
metal ion binding
transition metal ion binding

Displaying 1 entry
InterPro
S100/CaBP-9k-type, calcium binding, subdomain

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0110098	atopic dermatitis 2	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris	Alliance of Genome Resources

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Rattus norvegicus	2312	RGD:2620
Pongo abelii	100437584		PONAB16503

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements