sec24d

ID

ZDB-GENE-070117-2501

Name

SEC24 homolog D, COPII coat complex component

Symbol

sec24d Nomenclature History

Previous Names

bul
bulldog (1)

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable SNARE binding activity and zinc ion binding activity. Acts upstream of or within cartilage morphogenesis; embryonic viscerocranium morphogenesis; and extracellular matrix constituent secretion. Predicted to be located in cytoplasmic vesicle; cytosol; and endoplasmic reticulum membrane. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. Is expressed in several structures, including immature eye; myotome; nervous system; notochord; and pharyngeal arch cartilage. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human SEC24D (SEC24 homolog D, COPII coat complex component).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 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: 15 figures from 5 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sec24d Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Cole-Carpenter syndrome	Alliance	Cole-Carpenter syndrome 2	616294

Associated With sec24d Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR006895	Zinc finger, Sec23/Sec24-type
Domain	IPR006896	Sec23/Sec24, trunk domain
Domain	IPR006900	Sec23/Sec24, helical domain
Domain	IPR007123	Gelsolin-like domain
Domain	IPR012990	Sec23/Sec24 beta-sandwich
Domain	IPR041742	Sec24-like, trunk domain
Family	IPR050550	SEC23/SEC24 family, SEC24 subfamily
Homologous_superfamily	IPR029006	ADF-H/Gelsolin-like domain superfamily
Homologous_superfamily	IPR036174	Zinc finger, Sec23/Sec24-type superfamily
Homologous_superfamily	IPR036175	Sec23/Sec24 helical domain superfamily
Homologous_superfamily	IPR036180	Gelsolin-like domain superfamily
Homologous_superfamily	IPR036465	von Willebrand factor A-like domain superfamily