FBN2 fibrillin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBN2provided by HGNC
Official Full Name: fibrillin 2provided by HGNC
Primary source: HGNC:HGNC:3604
See related: Ensembl:ENSG00000138829 MIM:612570; AllianceGenome:HGNC:3604
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CCA; DA9; EOMD
Summary: The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
Expression: Biased expression in placenta (RPKM 46.2), testis (RPKM 4.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.3

Exon count:: 65

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (128257909..128538245, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (128776747..129057063, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (127593601..127873938, complement)

Chromosome 5 - NC_000005.10 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

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis.
Title: Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis.
Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells.
Title: Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells.
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Title: FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer.
Title: A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer.
Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?
Title: Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?
Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.
Title: Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Title: The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts.
Title: FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts.
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Title: Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
Title: Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital contractural arachnodactyly MedGen: C0220668 OMIM: 121050 GeneReviews: Congenital Contractural Arachnodactyly	not available
Macular degeneration, early-onset MedGen: C4015286 OMIM: 616118 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2024-02-28) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2024-02-28) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common body mass index-associated variants confer risk of extreme obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat is identified to have a physical interaction with fibrillin 2 (FBN2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH45095 (e-PCR)
- UniSTS:21509

G10669 (e-PCR)
- UniSTS:46362

D5S2551 (e-PCR)
- UniSTS:75803

D5S1733 (e-PCR)
- UniSTS:30235

D5S2652 (e-PCR)
- UniSTS:42528

SHGC-146305 (e-PCR)
- UniSTS:175138

D5S1544 (e-PCR)
- UniSTS:76078

FBN2 (e-PCR)
- UniSTS:504914

RH65083 (e-PCR)
- UniSTS:48735

G62035 (e-PCR)
- UniSTS:139127

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

WI-18592 (e-PCR)
- UniSTS:16564

GDB:182087 (e-PCR)
- UniSTS:155345

bac51488S (e-PCR)
- UniSTS:181468

D5S2610 (e-PCR)
- UniSTS:53238

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix constituent conferring elasticity	IC Inferred by Curator more info	PubMed
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone trabecula formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in camera-type eye development	IEP Inferred from Expression Pattern more info	PubMed
involved_in embryonic eye morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in placenta development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of trophoblast cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in sequestering of TGFbeta in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in microfibril	IDA Inferred from Direct Assay more info	PubMed
located_in microfibril	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: fibrillin-2

Names: fibrillin 5

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.

Genomic

NG_008750.2 RefSeqGene

Range

5000..285336

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001999.4 → NP_001990.2 fibrillin-2 precursor

See identical proteins and their annotated locations for NP_001990.2

Status: REVIEWED

Source sequence(s)

AC025169, AC113387, BC040623, BF368029, BG009811, BX343658, CD243435, CN300888, CN300893, CN300894, CN300904, CN481490, U03272

Consensus CDS

CCDS34222.1

UniProtKB/Swiss-Prot

B4DU01, P35556, Q59ES6

Related

ENSP00000262464.4, ENST00000262464.9

Conserved Domains (10) summary

cd11304
Location:2826 → 2873

Cadherin_repeat; Cadherin tandem repeat domain

smart00179
Location:658 → 698

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:810 → 845

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:1749 → 1786

TB; TB domain

pfam06247
Location:1293 → 1446

Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28

pfam07645
Location:318 → 358

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:1672 → 1695

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1412 → 1447

EGF_3; EGF domain

pfam14670
Location:1246 → 1281

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:2489 → 2529

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 ...