SEC23A - SEC23 homolog A, COPII coat complex component Gene

Homo sapiens

Also known as CLSD; hSec23A

Gene ID: 10484 | Gene type: protein coding

About SEC23A

Cytogenetic location: 14q21.1 Genomic coordinates (GRCh38): 14:39,031,919-39,103,235 (from NCBI)

This gene has 15 transcripts (splice variants), 131 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 27.6), small intestine (RPKM 25.4) and 24 other tissues.

Summary

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]

SEC23A Products(1)

mRNA	Protein	Name
NM_006364.4	NP_006355.2	protein transport protein Sec23A

SEC23A Protein Structure

zf-Sec23_Sec24

Sec23_trunk

Sec23_BS

Sec23_helical

Gelsolin

0
200
400
600
765 a.a.

Protein Preferred Names

Protein Names

protein transport protein Sec23A

SEC23-related protein A

Related Diseases

Diseases

Alias

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome	CLSD
Cranio-Lenticulo-Sutural Dysplasia	Cranio-Lenticulo-Sutural Dysplasia, Clsd

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda	X-Linked Spondyloepiphyseal Dysplasia Tarda
SEDT	Sed Tarda, X-Linked
Spondyloepiphyseal Dysplasia, Late	Spondyloepiphyseal Dysplasia Tarda X-Linked
Sed	X Linked Spondyloepiphyseal Dysplasia Tarda
X-Linked Spondyloepiphyseal Dysplasia	Late Onset Spondyloepiphyseal Dysplasia
Sed Tarda	X-Linked Sed
X-Linked Sedt	Dysplasia, Spondyloepiphyseal, Tarda
Spondyloepiphyseal Dysplasia

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

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Catshl Syndrome

Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome	Smed-Sl
Smed-Sl/Ac	Smed Short Limb-Abnormal Calcification Type
Smed Short Limb-Hand Type	Spondylometaepiphyseal Dysplasia Short Limb-Hand Type
Smed, Type Ii	Smed Type 2
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type	Smed, Short Limb-Hand Type
Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type	Smed, Short Limb-Abnormal Calcification Type
Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification	Spondyloepimetaphyseal Dysplasia, Short Limb-Hand Type
SEMD-SL	Smed Type Ii
Dysplasia, Spondylometaepiphyseal, Short Limb-Hand Type

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

Spondyloepiphyseal Dysplasia Congenita

SEDC	Sed Congenita
Spondyloepiphyseal Dysplasia, Congenital Type	Late Spondyloepiphyseal Dysplasia
Sed, Congenital Type	Congenital Spondyloepiphyseal Dysplasia
Spranger-Wiedemann Disease	Spondyloepiphyseal Dysplasia Congenital Type
Dysplasia, Spondyloepiphyseal, Congenita	Spondyloepiphyseal Dysplasia, Congenita
Spondyloepiphyseal Dysplasia Tarda, X-Linked

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

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-RS12612	SEC23A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SEC23A	RGD	RGD:1309103
Bos taurus	SEC23A	VGNC	VGNC:34410
Canis familiaris	SEC23A	VGNC	VGNC:45969
Mus musculus	SEC23A	MGD	MGI:1349635
Felis catus	SEC23A	VGNC	VGNC:64966
Macaca mulatta	SEC23A	VGNC	VGNC:77150

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