SEC23B - SEC23 homolog B, COPII coat complex component Gene

Also Known as CWS7; CDAII; CDAN2; CDA-II; HEMPAS; hSec23B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10483

About SEC23B

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:18,507,548-18,561,415 (from NCBI)

This gene has 11 transcripts (splice variants), 214 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 28.7), testis (RPKM 16.8) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

SEC23B Products (5)

mRNA	Protein	Name
NM_001172745.3	NP_001166216.1	protein transport protein Sec23B isoform 1
NM_001172746.3	NP_001166217.1	protein transport protein Sec23B isoform 2
NM_006363.6	NP_006354.2	protein transport protein Sec23B isoform 1
NM_032985.6	NP_116780.1	protein transport protein Sec23B isoform 1
NM_032986.5	NP_116781.1	protein transport protein Sec23B isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endomembrane system	IDA IDA: Inferred from direct assay	21364188	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	26522472	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

SEC23B Protein Structure

zf-Sec23_Sec24

Sec23_trunk

Sec23_BS

Sec23_helical

Gelsolin

0
200
400
600
767 a.a.

Protein Preferred Names	Protein Names
protein transport protein Sec23B	SEC23 homolog B, coat complex II component

SEC23B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SEC23B	Q15437	PRRC1	Homo sapiens	Q96M27	Validated Y2H	25416956
Intra	SEC23B	Q15437	SYNE4	Homo sapiens	Q8N205	Validated Y2H	25416956
Intra	SEC23B	Q15437	DTX2	Homo sapiens	Q86UW9	Y2H Prey Pooling	25416956
Intra	SEC23B	Q15437	DTX2	Homo sapiens	Q86UW9	Y2H Array	25416956
Intra	SEC23B	Q15437	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	25416956
Intra	SEC23B	Q15437	FATE1	Homo sapiens	Q969F0	Validated Y2H	25416956
Intra	SEC23B	Q15437	CPSF7	Homo sapiens	Q8N684	Y2H Array	25416956
Intra	SEC23B	Q15437	SEC24D	Homo sapiens	O94855	Y2H Array	25416956
Intra	SEC23B	Q15437	SEC24D	Homo sapiens	O94855	Anti Tag CoIP	33961781
Intra	SEC23B	Q15437	SEC24D	Homo sapiens	O94855	Validated Y2H	25416956
Intra	SEC23B	Q15437	SEC23A	Homo sapiens	Q15436	Anti Tag CoIP	33961781
Intra	SEC23B	Q15437	SEC24C	Homo sapiens	P53992	Anti Tag CoIP	33961781
Intra	SEC23B	Q15437	HOXA3	Homo sapiens	O43365	Validated Y2H	25416956
Intra	SEC23B	Q15437	HOXA3	Homo sapiens	O43365	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Cowden Syndrome 7	CWS7
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
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
Anemia, Congenital Dyserythropoietic, Type Ia	Congenital Dyserythropoietic Anemia Type I Cda I CDAN1A Congenital Dyserythropoietic Anemia Type 1 Congenital Dyserythropoietic Anemia Type Ia Congenital Dyserythropoietic Anemia, Type I Anemia, Congenital Dyserythropoietic, Type I Cda Type 1 Cda Type I Cda Ia Dyserythropoietic Anemia, Congenital Type 1 Anemia, Congenital Dyserythropoietic, Type 1a Dyserythropoietic Anemia, Congenital, Type Ia Cda, Type Ia Congenital Dyserythropoietic Anaemia Type 1 Congenital Dyserythropoietic Anaemia Type I Anemia, Dyserythropoietic, Congenital Type 1 Type I Congenital Dyserythropoietic Anemia Anemia, Congenital Dyserythropoietic, 1a Anemia, Dyserythropoietic, Congenital, Type Ia
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital Dyserythropoietic Anemia, Type Iii Cdan3 Congenital Dyserythropoietic Anemia Type Iii Cda Iii Congenital Dyserythropoietic Anemia Type 3 CDAN3A Dyserythropoietic Anemia, Congenital, Type Iiia Cda, Type Iiia Anemia, Congenital Dyserythropoietic, Type Iii Anemia With Multinucleated Erythroblasts Cda Type 3 Cda Type Iii Dyserythropoietic Anemia, Congenital Type 3 Cda, Type Iii Erythroreticulosis, Hereditary Benign Anaemia With Multinucleated Erythroblasts Congenital Dyserythropoietic Anaemia Type 3 Congenital Dyserythropoietic Anaemia Type Iii Hereditary Benign Erythroreticulosis Anemia, Congenital Dyserythropoietic, 3a Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign
Anemia, Congenital Dyserythropoietic, Type Ib	CDAN1B Congenital Dyserythropoietic Anemia Type Ib Cda, Type Ib Congenital Dyserythropoietic Anemia Type Type 1b Dyserythropoietic Anemia, Congenital, Type Ib Anemia, Congenital Dyserythropoietic, 1b Cda Ib Anemia, Dyserythropoietic, Congenital Anemia, Dyserythropoietic, Congenital, Type Ib
Craniolenticulosutural Dysplasia	Boyadjiev-Jabs Syndrome CLSD Cranio-Lenticulo-Sutural Dysplasia Cranio-Lenticulo-Sutural Dysplasia, Clsd
Anemia, Congenital Dyserythropoietic, Type Iv	CDAN4 Congenital Dyserythropoietic Anemia Type Iv Congenital Dyserythropoietic Anemia Type 4 Cda Iv Cda Due To Klf1 Mutation Cda Type 4 Cda Type Iv Congenital Dyserythropoietic Anemia Due To Klf1 Mutation Cda, Type Iv Dyserythropoietic Anemia, Congenital, Type Iv Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation Congenital Dyserythropoietic Anaemia Type 4 Congenital Dyserythropoietic Anaemia Type Iv Anemia, Congenital Dyserythropoietic, 4 Anemia, Dyserythropoietic Congenital, Type Iv Anemia, Dyserythropoietic, Congenital, Type Iv
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	X-Linked Dyserythropoietic Anemia X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia XLANP Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities Anemia Without Thrombocytopenia, X-Linked XLAWT Anemia X-Linked With Variable Neutropenia
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Immunodeficiency 51	IMD51 Candf5 Candidiasis, Familial, 5 Candidiasis, Familial, 5, Formerly Candf5, Formerly Familial Candidiasis 5 Candidiasis Familial 5 Autosomal Recessive Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive Chronic Mucocutaneous Candidiasis 5
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
Developmental And Epileptic Encephalopathy 50	DEE50 Epileptic Encephalopathy, Early Infantile, 50 Eiee50 Developmental And Epileptic Encephalopathy, 50 Congenital Disorder Of Glycosylation, Type Iz, Formerly Cdg1z, Formerly Carbohydrate Deficient Glycoprotein Syndrome Type Iz Cdg Syndrome Type Iz Cdg-Iz Congenital Disorder Of Glycosylation Type 1z Early Infantile Epileptic Encephalopathy 50 Cdg1z Congenital Disorder Of Glycosylation 1z Encephalopathy, Epileptic, Early Infantile,, Type 50
Pyruvate Kinase Deficiency Of Red Cells	Pyruvate Kinase Deficiency Pk Deficiency Pyruvate Kinase Deficiency Of Erythrocyte Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Of Erythrocytes Pkd PKRD Hereditary Non-Spherocytic Hemolytic Anemia Due To Pyruvate Kinase Deficiency Hnsha Pyruvate Kinase-Deficient Hemolytic Anemia Red Cell Pyruvate Kinase Deficiency Deficiency Of Pyruvate Kinase Anemia, Hemolytic, Congenital Nonspherocytic
Gastroduodenitis
Hemophagocytic Lymphohistiocytosis, Familial, 2	Familial Hemophagocytic Lymphohistiocytosis 2 FHL2 Hplh2 Hlh2 Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
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
Corneal Dystrophy, Posterior Polymorphous, 1	Posterior Polymorphous Corneal Dystrophy Ppcd Maumenee Corneal Dystrophy Posterior Polymorphous Corneal Dystrophy 1 PPCD1 Corneal Dystrophy, Hereditary Polymorphous Posterior Corneal Endothelial Dystrophy 1, Autosomal Dominant Schlichting Dystrophy Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly Ched1, Formerly Hereditary Polymorphus Posterior Corneal Dystrophy Posterior Polymorphous Dystrophy Hereditary Polymorphous Posterior Corneal Dystrophy Dystrophy, Corneal, Posterior Polymorphous Dystrophy, Corneal, Posterior Polymorphous, Type 1 Polymorphous Corneal Dystrophy Corneal Endothelial Dystrophy 2
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Dicer1 Syndrome	Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome Ppb Familial Tumor Susceptibility Syndrome Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Dicer1-Related Pleuropulmonary Blastoma Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome Ppbftds Doid:0081063
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Erythrocytosis, Familial, 1	ECYT1 Pfcp Primary Familial And Congenital Polycythemia Familial Erythrocytosis 1 Familial Erythrocytosis Polycythemia, Primary Familial And Congenital Autosomal Dominant Benign Erythrocytosis Familial Erythrocytosis Type 1 Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation Congenital Polycythemia Due To Erythropoietin Receptor Mutation Primary Congenital Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Autosomal Dominant Benign Erythrocytosis, Somatic Autosomal Dominant Familial Erythrocytosis-1 Erythrocytosis Autosomal Dominant Benign Familial Primary Polycythemia Familial Erythrocytosis, 1 Erythrocytosis, Familial, Type 1
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome

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-RS12613	SEC23B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SEC23B	VGNC	VGNC:81217
Bos taurus	SEC23B	VGNC	VGNC:34411
Macaca mulatta	SEC23B	VGNC	VGNC:77151
Mus musculus	SEC23B	MGD	MGI:1350925
Rattus norvegicus	SEC23B	RGD	RGD:1310699
Canis familiaris	SEC23B	VGNC	VGNC:45970
Others	SEC23B	NCBI