ZFIN ID: ZDB-GENE-030219-125
Gene Name: EGF containing fibulin extracellular matrix protein 2b
Gene Symbol: efemp2b    Nomenclature History

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Previous Names: id:ibd2923, sb:cb257, wu:fc56c09

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 21 Mapping Details/Browsers
Description: Predicted to have calcium ion binding activity. Predicted to be involved in elastic fiber assembly. Predicted to localize to extracellular space. Is expressed in several structures, including hindbrain neural plate; mesoderm; musculature system; neural tube; and tail bud. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IB. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2).
Genome Resources: Alliance (1),  Gene:572703 (1),  Ensembl(GRCz11):ENSDARG00000020811 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
DISEASE ASSOCIATED WITH efemp2b HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive cutis laxa type IB Alliance Cutis laxa, autosomal recessive, type IB 614437
DISEASE ASSOCIATED WITH efemp2b VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process elastic fiber assembly (more)
Cellular Component extracellular space (more)
Molecular Function calcium ion binding (more)
GO Terms (all 3)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA efemp2b-202 (1)    Ensembl 823
efemp2b-204 (1)    Ensembl 3344
ncRNA efemp2b-003 (1)    Ensembl 608
efemp2b-004 (1)    Ensembl 660
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM efemp2b No data available
MARKER RELATIONSHIPS
efemp2b Contained in: [BAC] CH73-336D18, DKEY-17E16 (1) (order this)
efemp2b Encodes: [EST] cb257 (1) (order this), fc56c09, ibd2923
[cDNA] MGC:175181 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001160358 (1)
Genomic GenBank:FP236853 (1) 404522 nt Blast at MegaBLAST
Polypeptide UniProtKB:Q5WQV6 (1) 440 aa
Sequence Information (all 18)
ORTHOLOGY for efemp2b ( Chr: 21 )
CITATIONS (23)