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fibrillin 2

Summary

Gene Symbol

FBN2

Organism

Homo sapiens (human)

External Links

NCBI Gene

2201

PubChem

2201

Alliance of Genome Resources

HGNC:3604

Annotation

Keyword

Alternative splicing
Calcium
Disease variant
Disulfide bond
EGF-like domain
Extracellular matrix
Glycoprotein
Hormone
Reference proteome
Repeat
Signal

Proteins

Displaying 1 entry
UniProt	Protein Name
P35556

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
placenta development	IDA	32329225
signal transduction	IEA
anatomical structure morphogenesis	IBA
embryonic limb morphogenesis	IEA
positive regulation of bone mineralization	ISS

GO Hierarchy

biological process

cellular process [inference]

signal transduction

developmental process [inference]

anatomical structure morphogenesis

animal organ morphogenesis [inference]

embryonic organ morphogenesis [inference]

embryonic eye morphogenesis

sensory organ morphogenesis [inference]

eye morphogenesis [inference]

embryonic eye morphogenesis

appendage morphogenesis [inference]

limb morphogenesis [inference]

embryonic limb morphogenesis

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

embryonic morphogenesis [inference]

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

embryonic organ morphogenesis [inference]

embryonic eye morphogenesis

anatomical structure formation involved in morphogenesis [inference]

trabecula formation [inference]

bone trabecula formation

anatomical structure development [inference]

animal organ development [inference]

placenta development

sensory organ development [inference]

eye development [inference]

camera-type eye development

homeostatic process [inference]

chemical homeostasis [inference]

carbohydrate homeostasis [inference]

glucose homeostasis

localization [inference]

maintenance of location [inference]

maintenance of protein location [inference]

maintenance of protein location in extracellular region [inference]

sequestering of TGFbeta in extracellular matrix

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular regulation of signal transduction [inference]

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of locomotion [inference]

regulation of cell motility [inference]

regulation of cell migration [inference]

regulation of trophoblast cell migration

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of osteoblast differentiation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of osteoblast differentiation

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

positive regulation of multicellular organismal process [inference]

positive regulation of ossification [inference]

positive regulation of bone mineralization

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular regulation of signal transduction [inference]

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of cellular response to growth factor stimulus [inference]

regulation of cellular response to transforming growth factor beta stimulus [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

regulation of developmental process [inference]

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of osteoblast differentiation

regulation of osteoblast differentiation [inference]

positive regulation of osteoblast differentiation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of osteoblast differentiation

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

regulation of multicellular organismal development [inference]

regulation of biomineral tissue development [inference]

regulation of bone mineralization [inference]

positive regulation of bone mineralization

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

regulation of cellular process [inference]

signal transduction

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular regulation of signal transduction [inference]

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of osteoblast differentiation

regulation of osteoblast differentiation [inference]

positive regulation of osteoblast differentiation

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of osteoblast differentiation

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway [inference]

sequestering of TGFbeta in extracellular matrix

extracellular negative regulation of signal transduction [inference]

sequestering of extracellular ligand from receptor [inference]

sequestering of TGFbeta in extracellular matrix

regulation of cell motility [inference]

regulation of cell migration [inference]

regulation of trophoblast cell migration

regulation of multicellular organismal process [inference]

regulation of ossification [inference]

regulation of bone mineralization [inference]

positive regulation of bone mineralization

positive regulation of ossification [inference]

positive regulation of bone mineralization

positive regulation of multicellular organismal process [inference]

positive regulation of ossification [inference]

positive regulation of bone mineralization

regulation of multicellular organismal development [inference]

regulation of biomineral tissue development [inference]

regulation of bone mineralization [inference]

positive regulation of bone mineralization

positive regulation of biomineral tissue development [inference]

positive regulation of bone mineralization

regulation of reproductive process [inference]

regulation of trophoblast cell migration

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
microfibril	TAS	20855508
microfibril	IDA	8120105
extracellular region	TAS
extracellular space	IDA	32329225
extracellular matrix	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

external encapsulating structure [inference]

extracellular matrix

collagen-containing extracellular matrix

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

microfibril

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
hormone activity	IDA	32329225
hormone activity	IEA
extracellular matrix structural constituent	RCA	28327460 28675934
extracellular matrix structural constituent	IBA
calcium ion binding	IEA

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent

extracellular matrix constituent conferring elasticity

structural molecule activity conferring elasticity [inference]

extracellular matrix constituent conferring elasticity

binding [inference]

protein binding

signaling receptor binding [inference]

receptor ligand activity [inference]

hormone activity

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

molecular function regulator activity [inference]

signaling receptor regulator activity [inference]

signaling receptor activator activity [inference]

receptor ligand activity [inference]

hormone activity

molecular function activator activity [inference]

signaling receptor activator activity [inference]

receptor ligand activity [inference]

hormone activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Fibrillin

Functional Category

G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
calcium ion binding

Displaying **all 10** entries
InterPro
Complement Clr-like EGF domain
EGF domain
EGF-like calcium-binding domain
EGF-like calcium-binding, conserved site
EGF-like domain
EGF-type aspartate/asparagine hydroxylation site
Growth factor receptor cysteine-rich domain superfamily
NOTCH1 EGF-like calcium-binding domain
TB domain
TGF-beta binding (TB) domain superfamily

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0060249	scoliosis	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly	Alliance of Genome Resources

Ortholog

Displaying entries **11 - 20** of 53 in total

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Species	Gene ID	Orthologous MAtrix
Sus scrofa	100048956	PIGXX19664
Equus caballus	100073031	HORSE08907
Taeniopygia guttata	100228040	TAEGU31560
Oryctolagus cuniculus	100357126	RABIT09276
Callithrix jacchus	100393601	CALJA24927
Pongo abelii	100436379	PONAB29354
Anolis carolinensis	100555649	ANOCA02233
Nomascus leucogenys	100594782	NOMLE25009
Loxodonta africana	100653609	LOXAF19948
Cavia porcellus	100714331	CAVPO03912

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements