Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	162540
Gene name Gene Name - the full gene name approved by the HGNC.	Signal peptide peptidase like 2C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SPPL2C
Synonyms (NCBI Gene) Gene synonyms aliases	IMP5
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.31

Show/Hide all(1)

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

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001675	Process	Acrosome assembly	IEA
GO:0001675	Process	Acrosome assembly	ISS
GO:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16829952
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IMP	17965014
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007342	Process	Fusion of sperm to egg plasma membrane involved in single fertilization	IEA
GO:0007342	Process	Fusion of sperm to egg plasma membrane involved in single fertilization	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	IBA
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IMP	16829952
GO:0033619	Process	Membrane protein proteolysis	IBA
GO:0035036	Process	Sperm-egg recognition	ISS
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IBA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IEA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	15385547
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IBA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IDA	15385547
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IEA
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IBA
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IDA	15385547
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IEA

MIM	HGNC	e!Ensembl
608284	28902	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Corticobasal Degeneration	Corticobasal degeneration	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

SPPL2C (signal peptide peptidase like 2C)