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FBLN7 fibulin 7 [ Homo sapiens (human) ]

Gene ID: 129804, updated on 5-Aug-2022

Summary

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Official Symbol
FBLN7provided by HGNC
Official Full Name
fibulin 7provided by HGNC
Primary source
HGNC:HGNC:26740
See related
Ensembl:ENSG00000144152 MIM:611551; AllianceGenome:HGNC:26740
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TM14
Summary
Predicted to enable calcium ion binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of biomineralization. Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 2.4), lymph node (RPKM 1.6) and 23 other tissues See more
Orthologs
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Genomic context

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See FBLN7 in Genome Data Viewer
Location:
2q13-q14.1
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112138385..112244708)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112565320..112615094)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (112895962..112945795)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MER proto-oncogene, tyrosine kinase Neighboring gene Sharpr-MPRA regulatory region 10261 Neighboring gene transmembrane protein 87B Neighboring gene zinc finger CCCH-type containing 8 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4107 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A C-terminal fragment of fibulin-7 interacts with endothelial cells and inhibits their tube formation in culture. de Vega S, et al. Arch Biochem Biophys, 2014 Mar 1. PMID 24480309, Free PMC Article
  2. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Velasco HM, et al. Am J Med Genet A, 2020 Oct. PMID 32783359, Free PMC Article
  3. Possible role of differentially expressing novel protein markers (ligatin and fibulin-7) in human aqueous humor and trabecular meshwork tissue in glaucoma progression. Basu K, et al. Cell Biol Int, 2019 Jul. PMID 30958601
  4. Fibulin-7 is overexpressed in glioblastomas and modulates glioblastoma neovascularization through interaction with angiopoietin-1. de Vega S, et al. Int J Cancer, 2019 Oct 15. PMID 30924128
  5. Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland. Lisi S, et al. Scand J Rheumatol, 2009 May-Jun. PMID 19229767

See all (17) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
    Title: Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
  2. fibulin-7 (Fbln7) bound to angiopoietin-1 through interaction between the N-terminal portions of Fbln7 and angiopoietin-1.
    Title: Fibulin-7 is overexpressed in glioblastomas and modulates glioblastoma neovascularization through interaction with angiopoietin-1.
  3. this is the first report which confirms the presence of ligatin and fibulin-7 in human aqueous humor, quantified their differential expression, and indicated the possibility of their involvement in the maintenance of the trabecular meshwork structure in glaucoma progression.
    Title: Possible role of differentially expressing novel protein markers (ligatin and fibulin-7) in human aqueous humor and trabecular meshwork tissue in glaucoma progression.
  4. Heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome.
    Title: Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.
  5. Fbln7-C terminal fragment inhibited the HUVEC tube formation and the vessel sprouting in aortic ring assays.
    Title: A C-terminal fragment of fibulin-7 interacts with endothelial cells and inhibits their tube formation in culture.
  6. Dysregulation of fibulin expression by anti-Ro/SSA antibodiess may contribute to disorganization of the extracellular environment and thus cause injury to the salivary gland architecture and functionality observed in Sjogren syndrome
    Title: Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37440, DKFZp547D0610

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables heparan sulfate proteoglycan binding IEA
Inferred from Electronic Annotation
more info
  
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of biomineralization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  
located_in focal adhesion HDA PubMed 

General protein information

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Preferred Names
fibulin-7
Names
FIBL-7

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)

  1. NM_001128165.2 → NP_001121637.1  fibulin-7 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001121637.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) omits an alternate in-frame coding exon resulting in a shorter protein isoform (2), compared to transcript variant 1.
    Source sequence(s)
    AC092645, BC035784, BC126986, DA201691
    Consensus CDS
    CCDS46391.1
    UniProtKB/Swiss-Prot
    Q53RD9
    Related
    ENSP00000387000.3, ENST00000409450.7
    Conserved Domains (4) summary
    cd00033
    Location:81 → 135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:178 → 223
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:137 → 172
    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 ...
    pfam07645
    Location:224 → 261
    EGF_CA; Calcium-binding EGF domain

  2. NM_153214.3 → NP_694946.2  fibulin-7 isoform 1 precursor

    See identical proteins and their annotated locations for NP_694946.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein isoform (1).
    Source sequence(s)
    AC092645, AK094759, BC035784
    Consensus CDS
    CCDS2095.1
    UniProtKB/Swiss-Prot
    Q53RD9, Q8N9G0
    Related
    ENSP00000331411.2, ENST00000331203.7
    Conserved Domains (4) summary
    cd00033
    Location:81 → 135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:224 → 269
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:137 → 172
    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 ...
    pfam07645
    Location:270 → 307
    EGF_CA; Calcium-binding EGF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    112138385..112244708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712260.3 → XP_006712323.1  fibulin-7 isoform X4

    Related
    ENSP00000386295.1, ENST00000409903.5
    Conserved Domains (5) summary
    cd00033
    Location:81 → 135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    cd00054
    Location:137 → 172
    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 ...
    pfam07645
    Location:270 → 307
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:250 → 273
    cEGF; Complement Clr-like EGF-like
    cl00057
    Location:220 → 267
    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. XM_011510585.2 → XP_011508887.1  fibulin-7 isoform X1

    Conserved Domains (4) summary
    cd00033
    Location:81 → 135
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:224 → 269
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:137 → 172
    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 ...
    pfam07645
    Location:270 → 307
    EGF_CA; Calcium-binding EGF domain

  3. XM_047443318.1 → XP_047299274.1  fibulin-7 isoform X2

  4. XM_047443319.1 → XP_047299275.1  fibulin-7 isoform X5

  5. XM_047443320.1 → XP_047299276.1  fibulin-7 isoform X6

  6. XM_011510587.3 → XP_011508889.1  fibulin-7 isoform X3

    Conserved Domains (4) summary
    cd00033
    Location:24 → 78
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00179
    Location:167 → 212
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:80 → 115
    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 ...
    pfam07645
    Location:213 → 250
    EGF_CA; Calcium-binding EGF domain

RNA

  1. XR_007069507.1 RNA Sequence

  2. XR_007069508.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    112565320..112615094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53RD9.1 GenPept UniProtKB/Swiss-Prot:Q53RD9

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