1. Gene
  2. SEC24C - SEC24 homolog C, COPII coat complex component Gene

SEC24C - SEC24 homolog C, COPII coat complex component Gene

Homo sapiens
Gene ID: 9632 | Gene type: protein coding

About SEC24C

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:73,744,372-73,772,161 (from NCBI)

This gene has 7 transcripts (splice variants), 42 orthologues and is associated with 1 phenotype. Ubiquitous expression in esophagus (RPKM 30.5), thyroid (RPKM 29.8) 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. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

SEC24C Products(2)

mRNA Protein Name
NM_004922.4 NP_004913.2 protein transport protein Sec24C
NM_198597.3 NP_940999.1 protein transport protein Sec24C

SEC24C Protein Structure

zf-Sec23_Sec24

zf-Sec23_Sec24: Sec23/Sec24 zinc finger (421 - 460)

Sec23_trunk

Sec23_trunk: Sec23/Sec24 trunk domain (499 - 743)

Sec23_BS

Sec23_BS: Sec23/Sec24 beta-sandwich domain (748 - 831)

Sec23_helical

Sec23_helical: Sec23/Sec24 helical domain (845 - 945)

Gelsolin

Gelsolin: Gelsolin repeat (962 - 1034)

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  • 1094 a.a.
Protein Preferred Names Protein Names

protein transport protein Sec24C

SEC24 family, member C

Related Diseases

Diseases Alias
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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

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

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

Orthologs Information

Species Symbol Source ID
Felis catus SEC24C VGNC VGNC:64969
Mus musculus SEC24C MGD MGI:1919746
Canis familiaris SEC24C VGNC VGNC:45974
Bos taurus SEC24C VGNC VGNC:34415
Macaca mulatta SEC24C VGNC VGNC:77153
Rattus norvegicus SEC24C RGD RGD:1597739