SEC24D (SEC24 homolog D, COPII coat complex component)

2014-11-01   Dessen P  

Identity

HGNC
SEC24D
LOCATION
4q26
LOCUSID
9871
ALIAS
CLCRP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9871
MIM: 607186
HGNC: 10706
Ensembl: ENSG00000150961

Variants:

dbSNP: 9871
ClinVar: 9871
TCGA: ENSG00000150961
COSMIC: SEC24D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150961ENST00000280551O94855
ENSG00000150961ENST00000419654E9PC44
ENSG00000150961ENST00000503683D6RGJ5
ENSG00000150961ENST00000506622E9PG84
ENSG00000150961ENST00000509818D6RBM1
ENSG00000150961ENST00000511481E9PDM8
ENSG00000150961ENST00000514561D6RAE2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
COPII complexKEGGhsa_M00404
COPII complexKEGGM00404
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
MHC class II antigen presentationREACTOMER-HSA-2132295
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Cargo concentration in the ERREACTOMER-HSA-5694530

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376762732023Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.0
376762732023Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.0
324336672020ERp29 as a regulator of Insulin biosynthesis.6
324336672020ERp29 as a regulator of Insulin biosynthesis.6
315308702019Identification and characterization of SEC24D as a susceptibility gene for hepatitis B virus infection.3
315308702019Identification and characterization of SEC24D as a susceptibility gene for hepatitis B virus infection.3
279427782017Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.15
279427782017Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.15
256831212015Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.73
256831212015Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.73
224046512012A triple arg motif mediates α(2B)-adrenergic receptor interaction with Sec24C/D and export.38
224046512012A triple arg motif mediates α(2B)-adrenergic receptor interaction with Sec24C/D and export.38
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208899762010Mutations in the carboxyl-terminal SEC24 binding motif of the serotonin transporter impair folding of the transporter.40

Citation

Dessen P

SEC24D (SEC24 homolog D, COPII coat complex component)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73095/sec24d-(sec24-homolog-d-copii-coat-complex-component)