FBN2 fibrillin 2 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: FBN2provided by VGNC
Official Full Name: fibrillin 2provided by VGNC
Primary source: VGNC:VGNC:40755
See related: Ensembl:ENSCAFG00845012524
Gene type: protein coding
RefSeq status: MODEL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 11

Exon count:: 65

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	11	NC_051815.1 (18048902..18289161, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	11	NC_006593.4 (16107059..16346938, complement)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	11	NC_049232.1 (17228746..17469482, complement)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	11	NC_049271.1 (16778944..17018819, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	11	NC_049752.1 (16618045..16858590, complement)

Chromosome 11 - NC_051815.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

21 Labrador Retrievers homozygous for a 10-bp deletion haplotype in intron 30 of FBN2 had significantly worse canine hip dysplasia (CHD). Of 143 dogs (6 other breeds), those homozygous for the same deletion haplotype also had significantly worse CHD.
Title: Evaluation of a fibrillin 2 gene haplotype associated with hip dysplasia and incipient osteoarthritis in dogs.

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General gene information

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Markers

D5S2652 (e-PCR)
- UniSTS:42528

MARC_26144-26145:1030379236:1 (e-PCR)
- UniSTS:268957

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: fibrillin-2

Names: fibrillin 2 (congenital contractural arachnodactyly)

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...

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

Reference ROS_Cfam_1.0

Genomic

NC_051815.1 Reference ROS_Cfam_1.0

Range

18048902..18289161 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038681416.1 → XP_038537344.1 fibrillin-2

UniProtKB/TrEMBL

A0A8C0P4U2, A0A8I3NQU3

Related

ENSCAFP00845018065.1, ENSCAFT00845023041.1

Conserved Domains (10) summary

smart00179
Location:2222 → 2261

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:819 → 854

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:1021 → 1062

TB; TB domain

pfam12662
Location:799 → 822

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1421 → 1456

EGF_3; EGF domain

pfam14670
Location:1255 → 1290

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:89 → 123

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2498 → 2538

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:329 → 369

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 ...

cl29226
Location:2835 → 2881

Cadherin; Cadherin domain

Alternate UMICH_Zoey_3.1

Genomic

NC_049271.1 Alternate UMICH_Zoey_3.1

Range

16778944..17018819 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038489988.1 → XP_038345916.1 fibrillin-2

Alternate UNSW_CanFamBas_1.0

Genomic

NC_049752.1 Alternate UNSW_CanFamBas_1.0

Range

16618045..16858590 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038615922.1 → XP_038471850.1 fibrillin-2

Alternate UU_Cfam_GSD_1.0

Genomic

NC_049232.1 Alternate UU_Cfam_GSD_1.0

Range

17228746..17469482 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038552058.1 → XP_038407986.1 fibrillin-2

UniProtKB/TrEMBL

A0A8C0P4U2, A0A8I3NQU3

Conserved Domains (10) summary

smart00179
Location:2218 → 2257

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:815 → 850

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:1017 → 1058

TB; TB domain

pfam12662
Location:795 → 818

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1417 → 1452

EGF_3; EGF domain

pfam14670
Location:1251 → 1286

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:85 → 119

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2494 → 2534

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:325 → 365

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 ...

cl29226
Location:2831 → 2877

Cadherin; Cadherin domain

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

NC_006593.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

Range

16107059..16346938 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_014117694.3 → XP_013973169.3 fibrillin-2

UniProtKB/TrEMBL

A0A8C0P4U2, A0A8I3NQU3

Conserved Domains (10) summary

smart00179
Location:2218 → 2257

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:815 → 850

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:1017 → 1058

TB; TB domain

pfam12662
Location:795 → 818

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1417 → 1452

EGF_3; EGF domain

pfam14670
Location:1251 → 1286

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:85 → 119

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2494 → 2534

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:325 → 365

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 ...

cl29226
Location:2831 → 2877

Cadherin; Cadherin domain