SEC24D - SEC24 homolog D, COPII coat complex component Gene

Also Known as CLCRP2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9871

About SEC24D

Cytogenetic location: 4q26 Genomic coordinates (GRCh38): 4:118,722,823-118,836,126 (from NCBI)

This gene has 14 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 21.6), small intestine (RPKM 18.5) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

SEC24D Products (2)

mRNA	Protein	Name
NM_001318066.2	NP_001304995.1	protein transport protein Sec24D isoform 2
NM_014822.4	NP_055637.2	protein transport protein Sec24D isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables SNARE binding	IPI IPI: Inferred from physical interaction	18843296	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	18843296	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in COPII-coated vesicle cargo loading	IDA IDA: Inferred from direct assay	17499046	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	20427317	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
part of COPII vesicle coat	IDA IDA: Inferred from direct assay	17499046	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SEC24D Protein Structure

zf-Sec23_Sec24

Sec23_trunk

Sec23_BS

Sec23_helical

Gelsolin

0
200
400
600
800
1032 a.a.

Protein Preferred Names	Protein Names
protein transport protein Sec24D	SEC24 related gene family, member D

SEC24D Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	SEC24D	O94855	SF3B4	Homo sapiens	Q15427	Y2H Prey Pooling	25416956
Intra	SEC24D	O94855	EWSR1	Homo sapiens	Q01844	Y2H Array	25416956
Intra	SEC24D	O94855	EWSR1	Homo sapiens	Q01844	Validated Y2H	25416956
Intra	SEC24D	O94855	SEC23B	Homo sapiens	Q15437	Y2H Array	31515488
Intra	SEC24D	O94855	SEC23B	Homo sapiens	Q15437	Anti Tag CoIP	35271311
Intra	SEC24D	O94855	SEC23B	Homo sapiens	Q15437	Y2H Pooling	16189514
Intra	SEC24D	O94855	SEC23B	Homo sapiens	Q15437	Y2H	21516116
Intra	SEC24D	O94855	SEC23B	Homo sapiens	Q15437	Y2H Prey Pooling	25416956
Intra	SEC24D	O94855	SEC23A	Homo sapiens	Q15436	Anti Tag CoIP	35271311
Intra	SEC24D	O94855	SEC23A	Homo sapiens	Q15436	X-Ray Diffraction	18843296

Cross: Cross-species interaction Intra: Intraspecies interaction

SEC24D Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P83484	SEC24D Antibody (YA3229)	WB	Human, Mouse, Rat
HY-P83484A	SEC24D Antibody (YA3229)(PBS only)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Cole-Carpenter Syndrome 2	CLCRP2 Cole-Carpenter Syndrome, Type 2
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Carpenter Syndrome 2	CRPT2 Carpenter Syndrome, Type 2
Osteogenesis Imperfecta, Type Xix	OI19 Osteogenesis Imperfecta Type 19 Osteogenesis Imperfecta Type Xix Osteogenesis Imperfecta, Type 19 Osteogenesis Imperfecta 19
Craniolenticulosutural Dysplasia	Boyadjiev-Jabs Syndrome CLSD Cranio-Lenticulo-Sutural Dysplasia Cranio-Lenticulo-Sutural Dysplasia, Clsd
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Eds Viib EDSARTH2 Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant Eds7b Ehlers-Danlos Syndrome Arthrochalasia Type 2 Ehlers-Danlos Syndrome Type 7b Ehlers-Danlos Syndrome 7b Ehlers-Danlos Syndrome, Arthrochalasia, Type 2
Keratosis Follicularis Spinulosa Decalvans	Kfsd Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi Keratosis Follicularis Spinulosa Decalvans, X-Linked Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratosis Pilaris Atrophicans	KPA Burnett Schwartz Berberian Syndrome
Brachydactyly-Syndactyly Syndrome	BDSD Brachydactyly-Syndactyly-Oligodactyly Syndrome Brachydactyly-Syndactyly, Zhao Type BDSDO
Anemia, Congenital Dyserythropoietic, Type Ii	Congenital Dyserythropoietic Anemia Type Ii CDAN2 Cda Ii Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test Cda Type Ii Congenital Dyserythropoietic Anemia Type 2 Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test Sec23b-Cdg Congenital Dyserythropoietic Anemia, Type Ii Dyserythropoietic Anemia, Hempas Type Hempas Cda Type 2 Dyserythropoietic Anemia, Congenital, Type Ii Cda, Type Ii Congenital Dyserythropoietic Anaemia Type 2 Congenital Dyserythropoietic Anaemia Type Ii Anemia, Dyserythropoietic, Congenital Type 2 Hempas Anemia Dyserythropoietic Anemia, Congenital Type 2 Anemia, Congenital Dyserythropoietic, 2 Dyserythropoietic Anemia Hempas Type Anemia, Dyserythropoietic Congenital, Type Ii Anemia, Dyserythropoietic, Congenital, Type Ii
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Brittle Cornea Syndrome 1	Brittle Cornea Syndrome Fragilitas Oculi With Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae BCS1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Ehlers-Danlos Syndrome, Type Vib, Formerly Eds6b, Formerly Type Vib Ehlers-Danlos Syndrome Eds Vib Ehlers-Danlos Syndrome Type 6b Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility Eds6b Formerly Ehlers-Danlos Syndrome Type Vib Formerly Ehlers-Danlos Syndrome Type 6 Cornea, Brittle, Syndrome Cornea, Brittle, Syndrome, Type 1 Ehlers-Danlos Syndrome 6b
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Chylomicron Retention Disease	CMRD Anderson Disease Lipid Transport Defect Of Intestine Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells Andd Anderson Syndrome Crd Andersons Disease Malabsorption Syndrome
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS12618	SEC24D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SEC24D	RGD	RGD:1311720
Macaca mulatta	SEC24D	VGNC	VGNC:77154
Felis catus	SEC24D	VGNC	VGNC:64970
Canis familiaris	SEC24D	VGNC	VGNC:45975
Mus musculus	SEC24D	MGD	MGI:1916858
Bos taurus	SEC24D	VGNC	VGNC:34416
Others	SEC24D	NCBI