Community Action Needed: Please respond to the NIH RFI
Gene

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
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
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
14 figures from 4 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
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
Domain Details Per Protein
Protein Length ADF-H/Gelsolin-like domain superfamily Gelsolin-like domain Gelsolin-like domain superfamily Sec23/Sec24 beta-sandwich Sec23/Sec24, helical domain Sec23/Sec24 helical domain superfamily Sec23/Sec24, trunk domain Sec24-like, trunk domain von Willebrand factor A-like domain superfamily Zinc finger, Sec23/Sec24-type Zinc finger, Sec23/Sec24-type superfamily
UniProtKB:F1QRB4 1030
UniProtKB:D5LMH4 1029
UniProtKB:Q561P8 227
Transcripts
Genome Browsers
No data available
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