SPPL2C (signal peptide peptidase like 2C)

2014-11-01  

Identity

HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
IMP5

Other Information

Locus ID:

NCBI: 162540
MIM: 608284
HGNC: 28902
Ensembl: ENSG00000185294

Variants:

dbSNP: 162540
ClinVar: 162540
TCGA: ENSG00000185294
COSMIC: SPPL2C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185294ENST00000329196Q8IUH8

Expression (GTEx)

0
10
20
30
40
50
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70
80
90
100

References

Pubmed IDYearTitleCitations
153855472004Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins.40
164151752006High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.17
152932772004Novel haplotypes in 17q21 are associated with progressive supranuclear palsy.14
307332802019The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban.4
307332812019Signal Peptide Peptidase-Like 2c (SPPL2c) impairs vesicular transport and cleavage of SNARE proteins.4
320484342019Signal peptide peptidase-like 2c impairs vesicular transport and cleaves SNARE proteins.1

Citation

Dessen P

SPPL2C (signal peptide peptidase like 2C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74198/sppl2c