SPPL2C (signal peptide peptidase like 2C)

Gene

• Entrez ID: 162540
• Gene name: Signal peptide peptidase like 2C
• Gene symbol: SPPL2C
• Synonyms (NCBI Gene): IMP5
• Chromosome: 17
• Chromosome location: 17q21.31

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017486	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005765	Component	Lysosomal membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16829952
GO:0006509	Process	Membrane protein ectodomain proteolysis	IMP	17965014
GO:0030660	Component	Golgi-associated vesicle membrane	IBA	21873635
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IMP	16829952
GO:0033619	Process	Membrane protein proteolysis	IBA	21873635
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IBA	21873635
GO:0042803	Function	Protein homodimerization activity	IDA	15385547
GO:0071458	Component	Integral component of cytoplasmic side of endoplasmic reticulum membrane	IBA	21873635
GO:0071458	Component	Integral component of cytoplasmic side of endoplasmic reticulum membrane	IDA	15385547
GO:0071556	Component	Integral component of lumenal side of endoplasmic reticulum membrane	IBA	21873635
GO:0071556	Component	Integral component of lumenal side of endoplasmic reticulum membrane	IDA	15385547

Other IDs

• MIM: 608284
• HGNC: 28902
• e!Ensembl: ENSG00000185294

Protein

• UniProt ID: Q8IUH8
• Protein name: Signal peptide peptidase-like 2C (SPP-like 2C) (SPPL2c) (EC 3.4.23.-) (Intramembrane protease 5) (IMP-5)
• Protein function: Sperm-specific intramembrane-cleaving aspartic protease (I-CLiP) that cleaves distinct tail-anchored proteins and SNARE proteins (PubMed:30733281). In elongated spermatids, modulates intracellular Ca(2+) homeostasis by controlling PLN abundance
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04258	Peptidase_A22B	241 → 532	Signal peptide peptidase	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis where it is primarily localised in spermatids (at protein level). {ECO:0000269|PubMed:30733281}.
• Sequence:

  MACLGFLLPVGFLLLISTVAGGKYGVAHVVSENWSKDYCILFSSDYITLPRDLHHAPLLP
  LYDGTKAPWCPGEDSPHQAQLRSPSQRPLRQTTAMVMRGNCSFHTKGWLAQGQGAHGLLI
  VSRVSDQQCSDTTLAPQDPRQPLADLTIPVAMLHYADMLDILSHTRGEAVVRVAMYAPPE
  PIIDYNMLVIFILAVGTVAAGGYWAGLTEANRLQRRRARRGGGSGGHHQLQEAAAAEGAQ
  KEDNEDIPVDFTPAMTGVVVTLSCSLMLLLYFFYDHFVYVTIGIFGLGAGIGLYSCLSPL
  VCRLSLRQYQRPPHSLWASLPLPLLLLASLCATVIIFWVAYRNEDRWAWLLQDTLGISYC
  LFVLHRVRLPTLKNCSSFLLALLAFDVFFVFVTPFFTKTGESIMAQVALGPAESSSHERL
  PMVLKVPRLRVSALTLCSQPFSILGFGDIVVPGFLVAYCCRFDVQVCSRQIYFVACTVAY
  AVGLLVTFMAMVLMQMGQPALLYLVSSTLLTSLAVAACRQELSLFWTGQGRAKMCGLGCA
  PSAGSRQKQEGAADAHTASTLERGTSRGAGDLDSNPGEDTTEIVTISENEATNPEDRSDS
  SEGWSDAHLDPNELPFIPPGASEELMPLMPMAMLIPLMPLMPPPSELGHVHAQAQAHETG
  LPWAGLHKRKGLKVRKSMSTQAPL

• Sequence length: 684

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	22438815, 21738487, 19915575, 24842889

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		30804561	ClinVar
Corticobasal Degeneration	Corticobasal Degeneration			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	33637690
Breast Neoplasms	Associate	37761960
Lung Diseases Interstitial	Associate	26792595
Neoplasm Metastasis	Associate	37761960
Neurodegenerative Diseases	Associate	33637690
Parkinson Disease	Associate	32829096, 33637690
Scleroderma Systemic	Associate	26792595