SNAPC4 (small nuclear RNA activating complex polypeptide 4)

2014-11-01  

Identity

HGNC
SNAPC4
LOCATION
9q34.3
LOCUSID
6621
ALIAS
PTFalpha,SNAP190
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6621
MIM: 602777
HGNC: 11137
Ensembl: ENSG00000165684

Variants:

dbSNP: 6621
ClinVar: 6621
TCGA: ENSG00000165684
COSMIC: SNAPC4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165684ENST00000298532Q5SXM2
ENSG00000165684ENST00000298532A0A024R8F4
ENSG00000165684ENST00000637388A0A1B0GUB4

Expression (GTEx)

0
10
20
30
40
50
60
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
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase III TranscriptionREACTOMER-HSA-74158
RNA Polymerase III Abortive And Retractive InitiationREACTOMER-HSA-749476
RNA Polymerase III Transcription InitiationREACTOMER-HSA-76046
RNA Polymerase III Transcription Initiation From Type 3 PromoterREACTOMER-HSA-76071
RNA polymerase II transcribes snRNA genesREACTOMER-HSA-6807505

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
369654782023Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.1
369654782023Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.1
265908212016Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis.10
265908212016Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis.10
243346452014Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population.10
243346452014Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population.10
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204637472010Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.26
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204637472010Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.26
176707472007The protein kinase CK2 phosphorylates SNAP190 to negatively regulate SNAPC DNA binding and human U6 transcription by RNA polymerase III.8
176707472007The protein kinase CK2 phosphorylates SNAP190 to negatively regulate SNAPC DNA binding and human U6 transcription by RNA polymerase III.8
159558162005Cooperation between small nuclear RNA-activating protein complex (SNAPC) and TATA-box-binding protein antagonizes protein kinase CK2 inhibition of DNA binding by SNAPC.3

Citation

Dessen P

SNAPC4 (small nuclear RNA activating complex polypeptide 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73604/snapc4-(small-nuclear-rna-activating-complex-polypeptide-4)