Gene

fbn2b

ID
ZDB-GENE-090112-3
Name
fibrillin 2b
Symbol
fbn2b Nomenclature History
Previous Names
  • fbn2 (1)
  • pfd (1)
  • puff daddy (1)
  • sco
  • scoth tape (1)
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to enable hormone activity. Predicted to be an extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; notochord morphogenesis; and regulation of cell proliferation involved in heart valve morphogenesis. Predicted to be located in microfibril. Predicted to be active in extracellular matrix and extracellular region. Is expressed in several structures, including epidermis; hypoblast; hypochord; immature eye; and paraxial mesoderm. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
gw1Allele with one point mutationUnknownPremature Stopnot specified
la014257TgTransgenic insertionUnknownUnknownDNA
la022362TgTransgenic insertionUnknownUnknownDNA
sa12625Allele with one point mutationUnknownSplice SiteENU
sa13470Allele with one point mutationUnknownPremature StopENU
sa16275Allele with one point mutationUnknownSplice SiteENU
sa24062Allele with one point mutationUnknownPremature StopENU
sa43757Allele with one point mutationUnknownSplice SiteENU
te382aAllele with one point mutationUnknownMissenseENU
tt239unknownUnknownUnknownENU
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Sequence Targeting Reagents
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Human Disease
Associated With fbn2b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital contractural arachnodactyly Alliance Contractural arachnodactyly, congenital 121050
Macular degeneration, early-onset 616118
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Associated With fbn2b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR013032 EGF-like, conserved site
Conserved_site IPR018097 EGF-like calcium-binding, conserved site
Domain IPR000742 EGF-like domain
Domain IPR001881 EGF-like calcium-binding domain
Domain IPR017878 TB domain
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Domain Details Per Protein
Protein Additional Resources Length Complement Clr-like EGF domain EGF domain EGF-like calcium-binding, conserved site EGF-like calcium-binding domain EGF-like, conserved site EGF-like domain EGF-type aspartate/asparagine hydroxylation site Fibrillin 1, unique N-terminal domain Fibrillin, first EGF domain Growth factor receptor cysteine-rich domain superfamily NOTCH1 EGF-like calcium-binding domain TB domain TGF-beta binding (TB) domain superfamily von Willebrand factor C/EGF & Fibrillin
UniProtKB:B6CS38 InterPro 2868
UniProtKB:A0A0G2KQ62 InterPro 2868
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 22
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA fbn2b-201 (1) Ensembl 931 nt
mRNA fbn2b-202 (1) Ensembl 8,607 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-241F21ZFIN Curated Data
Contained inFosmidZFOS-412G11ZFIN Curated Data
EncodesESTwz12651
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanFBN25
Amino acid sequence comparison (2)
MouseFbn218
Amino acid sequence comparison (1)
Citations
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