ZFIN Gene: fbn2b

ZFIN ID: ZDB-GENE-090112-3

ZFIN ID: ZDB-GENE-090112-3

Gene Name:

fibrillin 2b

Gene Symbol:

fbn2b Nomenclature History

Previous Names:

fbn2 (1), pfd (1), puff daddy (1), sco, scoth tape (1)

Gene Type:

protein_coding_gene

Location:

Chr: 22 Mapping Details/Browsers

Description:

Predicted to have extracellular matrix structural constituent. Involved in several processes, including circulatory system development; notochord morphogenesis; and regulation of cell proliferation involved in heart valve morphogenesis. Predicted to localize to extracellular matrix. 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 several human genes including FBN3 (fibrillin 3).

Genome Resources:

Alliance (1), Gene:571786 (1), Ensembl(GRCz11):ENSDARG00000098237 (1)

GENE EXPRESSION
All Expression Data:	9 figures from 4 publications
Wild-type Stages, Structures:	Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
	adaxial cell epidermis floor plate hypoblast hypochord immature eye median fin fold myotome notochord paraxial mesoderm pharyngeal arch mesenchyme post-vent vasculature solid lens vesicle somite whole organism

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
gw1	Point Mutation	Unknown	Premature Stop
la014257Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
la022362Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
sa12625	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa13470	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa16275	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa24062	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa43757	Point Mutation	Unknown	Splice Site	ENU	Zebrafish International Resource Center (ZIRC) (order this)
te382	Complex	Unknown	Unknown	ENU	European Zebrafish Resource Center (EZRC) (order this)
te382a	Point Mutation	Unknown	Missense	ENU
tt239	Unknown	Unknown	Unknown	ENU	European Zebrafish Resource Center (EZRC) (order this)

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
CRISPR1-fbn2b		2
CRISPR2-fbn2b		2
MO1-fbn2b	N/A	3
MO2-fbn2b	N/A	1
MO3-fbn2b	N/A	1

PHENOTYPE

Data:

13 figures from 5 publications

Observed in:

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
distal arthrogryposis	Alliance	Contractural arachnodactyly, congenital	121050
		Macular degeneration, early-onset	616118

DISEASE ASSOCIATED WITH fbn2b VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	cell adhesion (more)
Cellular Component	extracellular matrix (more)
Molecular Function	calcium ion binding (more)

GO Terms (all 11)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	fbn2b-201 (1)	931	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

ANTIBODIES No data available

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM fbn2b No data available

MARKER RELATIONSHIPS

fbn2b Contained in:	[BAC] DKEY-241F21 (1) (order this) [Fosmid] ZFOS-412G11 (1)
fbn2b Encodes:	[EST] wz12651

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_001135790 (1)	8607 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR751224 (1)	151612 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A0G2KQ62 (1)	2868 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 16)

ORTHOLOGY for fbn2b ( Chr: 22 )

CITATIONS (35)

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