Gene

elnb

ID

ZDB-GENE-061212-2

Name

elastin b

Symbol

elnb Nomenclature History

Previous Names

eln2 (1)
tropoelastin (1)

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to be an extracellular matrix structural constituent. Predicted to be located in collagen-containing extracellular matrix and extracellular region. Is expressed in cranium; heart; swim bladder; and ventral aorta. Human ortholog(s) of this gene implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Orthologous to human ELN (elastin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

24 figures from 15 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Moriyama et al., 2016
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With elnb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant cutis laxa 1	Alliance	Cutis laxa, autosomal dominant	123700
supravalvular aortic stenosis	Alliance	Supravalvar aortic stenosis	185500

Associated With elnb Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR003979	Tropoelastin

Domain Details Per Protein

Protein	Length	Tropoelastin
UniProtKB:A0A8M9P3C9 InterPro	1812
UniProtKB:A0A8M6Z3N0 InterPro	2104
UniProtKB:A0A8M6YV34 InterPro	2081
UniProtKB:A0A8M6YWX5 InterPro	1892
UniProtKB:A0A8M6YUG6 InterPro	2095
UniProtKB:A0A8M9PQI3 InterPro	2019
UniProtKB:A0A8M6Z2Z8 InterPro	2090
UniProtKB:A0A8M1NAS7 InterPro	2020
UniProtKB:A0A8M9PTX8 InterPro	2044