SEC24D - SEC24 homolog D, COPII coat complex component Gene

Homo sapiens

Also known as CLCRP2

Gene ID: 9871 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12618	SEC24D Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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