Format

Send to:

Choose Destination

FBLN2 fibulin 2 [ Homo sapiens (human) ]

Gene ID: 2199, updated on 24-Nov-2020

Summary

Official Symbol
FBLN2provided by HGNC
Official Full Name
fibulin 2provided by HGNC
Primary source
HGNC:HGNC:3601
See related
Ensembl:ENSG00000163520 MIM:135821
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

Genomic context

See FBLN2 in Genome Data Viewer
Location:
3p25.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (13549125..13638408)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (13573824..13679922)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene proline-rich protein 3 pseudogene Neighboring gene HDAC11 antisense RNA 1 Neighboring gene histone deacetylase 11 Neighboring gene small nucleolar RNA, H/ACA box 93 Neighboring gene uncharacterized LOC100293612 Neighboring gene Sharpr-MPRA regulatory region 4110 Neighboring gene long intergenic non-protein coding RNA 620

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association of mood-incongruent psychotic bipolar disorder.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001004019.2NP_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/Swiss-Prot
    P98095
    UniProtKB/TrEMBL
    Q86V58, Q9Y3V7
    Related
    ENSP00000384169.3, ENST00000404922.8
    Conserved Domains (6) summary
    smart00179
    Location:905947
    EGF_CA; Calcium-binding EGF-like domain
    cd00017
    Location:430490
    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:10721120
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:10091032
    cEGF; Complement Clr-like EGF-like
    pfam14670
    Location:616644
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:946986
    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 ...
  2. NM_001165035.2NP_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/Swiss-Prot
    P98095
    UniProtKB/TrEMBL
    Q86V58, Q9Y3V7
    Related
    ENSP00000420042.1, ENST00000492059.5
    Conserved Domains (6) summary
    smart00179
    Location:905947
    EGF_CA; Calcium-binding EGF-like domain
    cd00017
    Location:430490
    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:10721120
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:10091032
    cEGF; Complement Clr-like EGF-like
    pfam14670
    Location:616644
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:946986
    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 ...
  3. NM_001998.3NP_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
    P98095
    UniProtKB/TrEMBL
    Q86V58, Q9Y3V7
    Related
    ENSP00000295760.7, ENST00000295760.11
    Conserved Domains (6) summary
    smart00179
    Location:858900
    EGF_CA; Calcium-binding EGF-like domain
    cd00017
    Location:430490
    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:10251073
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:962985
    cEGF; Complement Clr-like EGF-like
    pfam14670
    Location:616644
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:899939
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    13549125..13638408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713026.2XP_006713089.1  fibulin-2 isoform X1

    Conserved Domains (6) summary
    smart00179
    Location:905947
    EGF_CA; Calcium-binding EGF-like domain
    cd00017
    Location:430490
    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:10331081
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:970993
    cEGF; Complement Clr-like EGF-like
    pfam14670
    Location:616644
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:946986
    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 ...
Support Center