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SEC24B - SEC24 homolog B, COPII coat complex component Gene

Also Known as SEC24

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10427

About SEC24B

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:109,433,815-109,540,896 (from NCBI)

This gene has 3 transcripts (splice variants), 211 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 10.5), liver (RPKM 10.5) 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 is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

SEC24B Products (5)

mRNA	Protein	Name
NM_001042734.4	NP_001036199.1	protein transport protein Sec24B isoform b
NM_001300813.3	NP_001287742.1	protein transport protein Sec24B isoform c
NM_001318085.2	NP_001305014.1	protein transport protein Sec24B isoform d
NM_001318086.2	NP_001305015.1	protein transport protein Sec24B isoform e
NM_006323.5	NP_006314.2	protein transport protein Sec24B isoform a

SEC24B Protein Structure

zf-Sec23_Sec24

Sec23_trunk

Sec23_BS

Sec23_helical

Gelsolin

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1268 a.a.

Protein Preferred Names	Protein Names
protein transport protein Sec24B	SEC24 related gene family, member B

SEC24B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SEC24B	O95487	SEC23A	Homo sapiens	Q15436	CoIP	10075675

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Craniolenticulosutural Dysplasia	Boyadjiev-Jabs Syndrome CLSD Cranio-Lenticulo-Sutural Dysplasia Cranio-Lenticulo-Sutural Dysplasia, Clsd
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
Osteogenesis Imperfecta, Type Xix	OI19 Osteogenesis Imperfecta Type 19 Osteogenesis Imperfecta Type Xix Osteogenesis Imperfecta, Type 19 Osteogenesis Imperfecta 19
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
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
Congenital Dyserythropoietic Anemia	Congenital Dyshaematopoietic Anaemia Dyserythropoietic Anemia, Congenital Cda Anemia, Dyserythropoietic, Congenital Anemia Dyserythropoietic Congenital Cda - [Congenital Dyserythropoietic Anaemia] Dyserythropoietic Dyshaematopoietic Congenital Anaemia Dyshaematopoietic Anaemia Dyserythropoietic Anaemia
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
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
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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12616	SEC24B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SEC24B	VGNC	VGNC:64968
Macaca mulatta	SEC24B	VGNC	VGNC:82233
Canis familiaris	SEC24B	VGNC	VGNC:45973
Rattus norvegicus	SEC24B	RGD	RGD:1309358
Mus musculus	SEC24B	MGD	MGI:2139764
Bos taurus	SEC24B	VGNC	VGNC:34414