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    FBLN7 fibulin 7 [ Homo sapiens (human) ]

    Gene ID: 129804, updated on 3-Apr-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    2q13-q14.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112138385..112244708)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112565320..112671583)
    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 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001128165.2NP_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:81135
      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:178223
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:137172
      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:224261
      EGF_CA; Calcium-binding EGF domain
    2. NM_153214.3NP_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:81135
      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:224269
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:137172
      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:270307
      EGF_CA; Calcium-binding EGF domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_006712260.3XP_006712323.1  fibulin-7 isoform X4

      UniProtKB/TrEMBL
      B8ZZC1
      Related
      ENSP00000386295.1, ENST00000409903.5
      Conserved Domains (5) summary
      cd00033
      Location:81135
      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:137172
      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:270307
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:250273
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:220267
      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_011510585.2XP_011508887.1  fibulin-7 isoform X1

      Conserved Domains (4) summary
      cd00033
      Location:81135
      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:224269
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:137172
      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:270307
      EGF_CA; Calcium-binding EGF domain
    3. XM_047443318.1XP_047299274.1  fibulin-7 isoform X2

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

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

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

      Conserved Domains (4) summary
      cd00033
      Location:2478
      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:167212
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:80115
      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:213250
      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_054340489.1XP_054196464.1  fibulin-7 isoform X4

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

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

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

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

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

    RNA

    1. XR_008486268.1 RNA Sequence

    2. XR_008486269.1 RNA Sequence