efemp2a EGF containing fibulin extracellular matrix protein 2a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: efemp2aprovided by ZNC
Official Full Name: EGF containing fibulin extracellular matrix protein 2aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-041212-8
See related: Ensembl:ENSDARG00000094324 AllianceGenome:ZFIN:ZDB-GENE-041212-8
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: efemp2; wu:fb22f10; wu:fc49d09; zgc:103659
Summary: Predicted to enable calcium ion binding activity. Predicted to be involved in animal organ development. Predicted to be located in extracellular region. Is expressed in several structures, including brain; head mesenchyme; muscle; notochord; and paraxial mesoderm. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 14

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	14	NC_007125.7 (30672912..30704077, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	14	NC_007125.6 (30332598..30363763, complement)

Chromosome 14 - NC_007125.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Efemp2a acts as a downstream effector of Stat3 to promote extracellular matrix configuration for coherent collective cell migrations in vivo.
Title: Stat3-Efemp2a modulates the fibrillar matrix for cohesive movement of prechordal plate progenitors.

Submit: New GeneRIF Correction

General gene information

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Markers

fc49d09.x1 (e-PCR)
- UniSTS:188199

fb22f10.x1 (e-PCR)
- UniSTS:203066

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: EGF-containing fibulin-like extracellular matrix protein 2a

Names: EGF containing fibulin-like extracellular matrix protein 2a; EGF-containing fibulin-like extracellular matrix protein 2; fbln4; fibulin 4

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)

NM_001008587.1 → NP_001008587.1 EGF-containing fibulin-like extracellular matrix protein 2a precursor

See identical proteins and their annotated locations for NP_001008587.1

Status: PROVISIONAL

Source sequence(s)

BC086840

UniProtKB/TrEMBL

Q5PR37

Related

ENSDARP00000120392.1, ENSDART00000134098.2

Conserved Domains (4) summary

smart00179
Location:161 → 190

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:120 → 159

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:180 → 203

cEGF; Complement Clr-like EGF-like

cl21504
Location:280 → 307

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 ...