Gene

efemp2b

ID

ZDB-GENE-030219-125

Name

EGF containing fibulin extracellular matrix protein 2b

Symbol

efemp2b Nomenclature History

Previous Names

id:ibd2923
sb:cb257
wu:fc56c09

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to enable calcium ion binding activity. Predicted to act upstream of or within elastic fiber assembly. Predicted to be located in 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 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).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

12 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb257 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human 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

Associated With efemp2b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018097	EGF-like calcium-binding, conserved site
Domain	IPR000742	EGF-like domain
Domain	IPR001881	EGF-like calcium-binding domain
Domain	IPR026823	Complement Clr-like EGF domain
Domain	IPR049883	NOTCH1 EGF-like calcium-binding domain
Family	IPR050751	Extracellular matrix structural protein
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily
PTM	IPR000152	EGF-type aspartate/asparagine hydroxylation site

Domain Details Per Protein

Protein	Length	Complement Clr-like EGF domain	EGF-like calcium-binding, conserved site	EGF-like calcium-binding domain	EGF-like domain	EGF-type aspartate/asparagine hydroxylation site	Extracellular matrix structural protein	Growth factor receptor cysteine-rich domain superfamily	NOTCH1 EGF-like calcium-binding domain
UniProtKB:Q5WQV6 InterPro	440

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	efemp2b-201 (1) Ensembl	Ensembl	2,034 nt	Select Tool ZFIN BLAST
mRNA	efemp2b-202 (1) Ensembl	Ensembl	823 nt	Select Tool ZFIN BLAST
mRNA	efemp2b-204 (1) Ensembl	Ensembl	3,344 nt	Select Tool ZFIN BLAST
ncRNA	efemp2b-003 (1) Ensembl	Ensembl	608 nt	Select Tool ZFIN BLAST
ncRNA	efemp2b-004 (1) Ensembl	Ensembl	660 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations