SYNPO (synaptopodin)

2014-11-01  

Identity

HGNC
LOCATION
5q33.1
LOCUSID
ALIAS
-
FUSION GENES

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

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
323983702020Microbiota-derived butyrate dynamically regulates intestinal homeostasis through regulation of actin-associated protein synaptopodin.106
323983702020Microbiota-derived butyrate dynamically regulates intestinal homeostasis through regulation of actin-associated protein synaptopodin.106
315977022019Intrinsic disorder and amino acid specificity modulate binding of the WW2 domain in kidney and brain protein (KIBRA) to synaptopodin.4
315977022019Intrinsic disorder and amino acid specificity modulate binding of the WW2 domain in kidney and brain protein (KIBRA) to synaptopodin.4
288007432017An iTRAQ-based proteomic analysis reveals dysregulation of neocortical synaptopodin in Lewy body dementias.15
288007432017An iTRAQ-based proteomic analysis reveals dysregulation of neocortical synaptopodin in Lewy body dementias.15
264052212016Exome Sequence Data From Multigenerational Families Implicate AMPA Receptor Trafficking in Neurocognitive Impairment and Schizophrenia Risk.13
276048002016Urine synaptopodin excretion is an important marker of glomerular disease progression.12
264052212016Exome Sequence Data From Multigenerational Families Implicate AMPA Receptor Trafficking in Neurocognitive Impairment and Schizophrenia Risk.13
276048002016Urine synaptopodin excretion is an important marker of glomerular disease progression.12
250480042015Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.84
251459322015A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.26
252955762015A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.3
250480042015Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.84
251459322015A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.26

Citation

Dessen P

SYNPO (synaptopodin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74421/synpo-(synaptopodin)