Fbn2 fibrillin 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Fbn2provided by RGD
Full Name: fibrillin 2provided by RGD
Primary source: RGD:620910
See related: EnsemblRapid:ENSRNOG00000043219 AllianceGenome:RGD:620910
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable hormone activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in several processes, including bone trabecula formation; eye development; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within embryonic limb morphogenesis. Predicted to be located in extracellular region and microfibril. Predicted to be active in extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Testes (RPKM 40.3), Uterus (RPKM 32.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 18q12.1

Exon count:: 66

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	18	NC_086036.1 (53696197..53901992, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	18	NC_051353.1 (51499670..51703976, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	18	NC_005117.4 (53068495..53272254, complement)

Chromosome 18 - NC_086036.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

d18rat92 (e-PCR)
- UniSTS:121352

D18Rat137 (e-PCR), detects polymorphism
- UniSTS:226929

BE120754 (e-PCR)
- UniSTS:247435

Fbn2 (e-PCR), detects polymorphism
- UniSTS:256395

BI282166 (e-PCR)
- UniSTS:249757

Fbn2 (e-PCR), detects polymorphism
- UniSTS:463015

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables hormone activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bone trabecula formation	ISO Inferred from Sequence Orthology more info
involved_in camera-type eye development	ISO Inferred from Sequence Orthology more info
involved_in embryonic eye morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic limb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within limb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in placenta development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of trophoblast cell migration	ISO Inferred from Sequence Orthology more info
involved_in sequestering of TGFbeta in extracellular matrix	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in microfibril	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: fibrillin-2

Names: fibrillin-2-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_031826.2 → NP_114014.2 fibrillin-2 precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000018

UniProtKB/TrEMBL

A6IX89, F1M5Q4, Q9WUH9

Related

ENSRNOP00000059245.4, ENSRNOT00000066548.5

Conserved Domains (10) summary

cd11304
Location:2821 → 2868

Cadherin_repeat; Cadherin tandem repeat domain

smart00179
Location:1843 → 1875

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:803 → 838

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:1005 → 1046

TB; TB domain

pfam12662
Location:783 → 806

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1405 → 1440

EGF_3; EGF domain

pfam14670
Location:1239 → 1274

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:76 → 112

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2520 → 2556

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:318 → 358

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086036.1 Reference GRCr8

Range

53696197..53901992 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039097130.2 → XP_038953058.1 fibrillin-2 isoform X1

UniProtKB/TrEMBL

A6IX88

Conserved Domains (8) summary

cd11304
Location:2439 → 2486

Cadherin_repeat; Cadherin tandem repeat domain

smart00179
Location:1461 → 1493

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:421 → 456

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:623 → 664

TB; TB domain

pfam12662
Location:401 → 424

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1023 → 1058

EGF_3; EGF domain

pfam14670
Location:857 → 892

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:2138 → 2174

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...