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FBLN7 fibulin 7 [ Homo sapiens (human) ]

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

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
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Genomic context

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

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

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 

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_001128165.2NP_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
    Q53RD9, 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: 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_006712260.3XP_006712323.1  fibulin-7 isoform X4

    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..112615094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)