SYNPO (synaptopodin)

2014-11-01  

Identity

HGNC
SYNPO
LOCATION
5q33.1
LOCUSID
11346
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11346
MIM: 608155
HGNC: 30672
Ensembl: ENSG00000171992

Variants:

dbSNP: 11346
ClinVar: 11346
TCGA: ENSG00000171992
COSMIC: SYNPO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171992ENST00000307662Q8N3V7
ENSG00000171992ENST00000394243Q8N3V7
ENSG00000171992ENST00000519664Q8N3V7
ENSG00000171992ENST00000522122Q8N3V7

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
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
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530

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
166224182006Synaptopodin orchestrates actin organization and cell motility via regulation of RhoA signalling.163
158412122005Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner.114
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
250480042015Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.41
120423082002Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.37
172551282007Glomerular expression of nephrin and synaptopodin, but not podocin, is decreased in kidney sections from women with preeclampsia.37
156592292005Synaptopodin, a molecule involved in the formation of the dendritic spine apparatus, is a dual actin/alpha-actinin binding protein.31
216552122011Urinary podocyte-associated mRNA profile in various stages of diabetic nephropathy.29
196666572010Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis.19
251459322015A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.17

Citation

Dessen P

SYNPO (synaptopodin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74421/synpo