FBLN2 fibulin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBLN2provided by HGNC
Official Full Name: fibulin 2provided by HGNC
Primary source: HGNC:HGNC:3601
See related: Ensembl:ENSG00000163520 MIM:135821; AllianceGenome:HGNC:3601
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
Summary: This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 72.6), placenta (RPKM 47.4) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (13549125..13638404)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (13549579..13638882)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (13590625..13679904)

Chromosome 3 - NC_000003.12 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?

TMT-based quantitative proteomic analysis revealed that FBLN2 and NPR3 are involved in the early osteogenic differentiation of mesenchymal stem cells (MSCs).
Title: TMT-based quantitative proteomic analysis revealed that FBLN2 and NPR3 are involved in the early osteogenic differentiation of mesenchymal stem cells (MSCs).
Fibulin-2 Facilitates Malignant Progression of Hepatocellular Carcinoma.
Title: Fibulin-2 Facilitates Malignant Progression of Hepatocellular Carcinoma.
Knockdown of FBLN2 suppresses TGF-beta1-induced MRC-5 cell migration and fibrosis by downregulating VTN.
Title: Knockdown of FBLN2 suppresses TGF-β1-induced MRC-5 cell migration and fibrosis by downregulating VTN.
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Title: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Fibulin-2 expression associates with vascular invasion and patient survival in breast cancer.
Title: Fibulin-2 expression associates with vascular invasion and patient survival in breast cancer.
Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2.
Title: Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2.
Fibulin-2: A Novel Biomarker for Differentiating Grade II from Grade I Meningiomas.
Title: Fibulin-2: A Novel Biomarker for Differentiating Grade II from Grade I Meningiomas.
An Investigation of Fibulin-2 in Hypertrophic Cardiomyopathy.
Title: An Investigation of Fibulin-2 in Hypertrophic Cardiomyopathy.
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.
Title: Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.
Gene-based tests indicated an association between intracranial aneurysms and FBLN2, a gene encoding an extracellular matrix protein implicated in vascular wall remodeling.
Title: Exome-chip association analysis of intracranial aneurysms.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

EBI GWAS Catalog

Description
Genome-wide association of mood-incongruent psychotic bipolar disorder. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57863 (e-PCR)
- UniSTS:79802

D3S1516 (e-PCR)
- UniSTS:62673

SHGC-76718 (e-PCR)
- UniSTS:40935

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix binding	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix constituent conferring elasticity	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of cell-substrate adhesion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular vesicle	HDA more info	PubMed

General protein information

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Preferred Names: fibulin-2

Names: FIBL-2

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_001004019.2 → NP_001004019.1 fibulin-2 isoform a precursor

See identical proteins and their annotated locations for NP_001004019.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents use of an alternate promoter and 5' UTR, compared to variant 3, and encodes the longer isoform (a). Both variants 1 and 3 encode the same isoform.

Source sequence(s)

AL050095, AY130459, BC051690, CB959783

Consensus CDS

CCDS46761.1

UniProtKB/TrEMBL

Q86V58

Related

ENSP00000384169.3, ENST00000404922.8

Conserved Domains (6) summary

smart00179
Location:905 → 947

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:430 → 490

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:1072 → 1120

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:1009 → 1032

cEGF; Complement Clr-like EGF-like

pfam14670
Location:616 → 644

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:946 → 986

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 ...
NM_001165035.2 → NP_001158507.1 fibulin-2 isoform a precursor

See identical proteins and their annotated locations for NP_001158507.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript, and encodes the longer isoform (a). Both variants 1 and 3 encode the same isoform.

Source sequence(s)

AC090509, AK304827, AL050095, BC051690

Consensus CDS

CCDS46761.1

UniProtKB/TrEMBL

Q86V58

Related

ENSP00000420042.1, ENST00000492059.5

Conserved Domains (6) summary

smart00179
Location:905 → 947

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:430 → 490

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:1072 → 1120

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:1009 → 1032

cEGF; Complement Clr-like EGF-like

pfam14670
Location:616 → 644

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:946 → 986

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 ...
NM_001998.3 → NP_001989.2 fibulin-2 isoform b precursor

See identical proteins and their annotated locations for NP_001989.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 3. The resulting isoform (b) lacks an internal segment, compared to isoform a.

Source sequence(s)

AL050095, BC051690, CB959783

Consensus CDS

CCDS46762.1

UniProtKB/Swiss-Prot

B7Z9C5, P98095, Q8IUI0, Q8IUI1

UniProtKB/TrEMBL

Q86V58

Related

ENSP00000295760.7, ENST00000295760.11

Conserved Domains (6) summary

smart00179
Location:858 → 900

EGF_CA; Calcium-binding EGF-like domain

cd00017
Location:430 → 490

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:1025 → 1073

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:962 → 985

cEGF; Complement Clr-like EGF-like

pfam14670
Location:616 → 644

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:899 → 939

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 ...