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    FBLN7 fibulin 7 [ Homo sapiens (human) ]

    Gene ID: 129804, updated on 28-Oct-2024

    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. Located in focal adhesion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in thyroid (RPKM 2.4), lymph node (RPKM 1.6) and 23 other tissues See more
    Orthologs
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112138385..112244708)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112565320..112671583)
    RS_2024_09 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 SLC30A6 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3720 Neighboring gene Sharpr-MPRA regulatory region 10261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16389 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:112818151-112818365 Neighboring gene transmembrane protein 87B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:112897779-112898492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:112914115-112914944 Neighboring gene NANOG hESC enhancer GRCh37_chr2:112925881-112926394 Neighboring gene zinc finger CCCH-type containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11870 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4107 Neighboring gene uncharacterized LOC124906182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:113032876-113033448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11871 Neighboring gene MPRA-validated peak3818 silencer Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 6 Neighboring gene zinc finger CCCH-type containing 6

    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 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. Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals. Sugiura H, et al. J Cell Physiol, 2023 Jan. PMID 36370444
    3. 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
    4. 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
    5. 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

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.
      Title: Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.
    2. Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals.
      Title: Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals.
    3. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
      Title: Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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
    		  
    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
      A0JNV1, A0JNV2, Q53RD9, Q5H9P5, 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: GCF_000001405.40-RS_2024_08

    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

      UniProtKB/TrEMBL
      B8ZZC1
      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..112671583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340489.1 → XP_054196464.1  fibulin-7 isoform X4

    2. XM_054340486.1 → XP_054196461.1  fibulin-7 isoform X1

    3. XM_054340487.1 → XP_054196462.1  fibulin-7 isoform X2

    4. XM_054340490.1 → XP_054196465.1  fibulin-7 isoform X5

    5. XM_054340491.1 → XP_054196466.1  fibulin-7 isoform X6

    6. XM_054340488.1 → XP_054196463.1  fibulin-7 isoform X3

    RNA

    1. XR_008486268.1 RNA Sequence

    2. XR_008486269.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53RD9.1 GenPept UniProtKB/Swiss-Prot:Q53RD9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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