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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56928
Gene name	Signal peptide peptidase like 2B
Gene symbol	SPPL2B
Synonyms (NCBI Gene)	IMP-4IMP4PSH4PSL1
Chromosome	19
Chromosome location	19p13.3
Summary	This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the p

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miRTarBase ID	miRNA	Experiments
MIRT1385467	hsa-miR-1299	CLIP-seq
MIRT1385468	hsa-miR-1321	CLIP-seq
MIRT1385469	hsa-miR-3150a-3p	CLIP-seq
MIRT1385470	hsa-miR-3175	CLIP-seq
MIRT1385471	hsa-miR-3622a-3p	CLIP-seq
MIRT1385472	hsa-miR-3622b-3p	CLIP-seq
MIRT1385473	hsa-miR-378	CLIP-seq
MIRT1385474	hsa-miR-378b	CLIP-seq
MIRT1385475	hsa-miR-378c	CLIP-seq
MIRT1385476	hsa-miR-378d	CLIP-seq
MIRT1385477	hsa-miR-378e	CLIP-seq
MIRT1385478	hsa-miR-378f	CLIP-seq
MIRT1385479	hsa-miR-378h	CLIP-seq
MIRT1385480	hsa-miR-378i	CLIP-seq
MIRT1385481	hsa-miR-422a	CLIP-seq
MIRT1385482	hsa-miR-4419a	CLIP-seq
MIRT1385483	hsa-miR-4493	CLIP-seq
MIRT1385484	hsa-miR-4510	CLIP-seq
MIRT1385485	hsa-miR-4638-3p	CLIP-seq
MIRT1385486	hsa-miR-4728-5p	CLIP-seq
MIRT1385487	hsa-miR-4739	CLIP-seq
MIRT1385488	hsa-miR-4756-5p	CLIP-seq
MIRT1385489	hsa-miR-4782-5p	CLIP-seq
MIRT1385490	hsa-miR-491-5p	CLIP-seq
MIRT1385491	hsa-miR-516b	CLIP-seq
MIRT1385492	hsa-miR-939	CLIP-seq
MIRT2338056	hsa-miR-3922-5p	CLIP-seq
MIRT2338057	hsa-miR-4436b-5p	CLIP-seq
MIRT2338058	hsa-miR-4708-3p	CLIP-seq
MIRT2338059	hsa-miR-4717-5p	CLIP-seq
MIRT2338060	hsa-miR-4753-5p	CLIP-seq
MIRT2338061	hsa-miR-4767	CLIP-seq
MIRT2338062	hsa-miR-542-3p	CLIP-seq
MIRT2338063	hsa-miR-646	CLIP-seq
MIRT1385492	hsa-miR-939	CLIP-seq
MIRT2395037	hsa-miR-122	CLIP-seq
MIRT1385469	hsa-miR-3150a-3p	CLIP-seq
MIRT1385470	hsa-miR-3175	CLIP-seq
MIRT2395038	hsa-miR-3662	CLIP-seq
MIRT2395039	hsa-miR-3944-5p	CLIP-seq
MIRT2395040	hsa-miR-574-5p	CLIP-seq
MIRT2395041	hsa-miR-648	CLIP-seq
MIRT2395042	hsa-miR-765	CLIP-seq
MIRT1385492	hsa-miR-939	CLIP-seq
MIRT1385468	hsa-miR-1321	CLIP-seq
MIRT1385469	hsa-miR-3150a-3p	CLIP-seq
MIRT1385470	hsa-miR-3175	CLIP-seq
MIRT1385471	hsa-miR-3622a-3p	CLIP-seq
MIRT1385472	hsa-miR-3622b-3p	CLIP-seq
MIRT1385482	hsa-miR-4419a	CLIP-seq
MIRT1385484	hsa-miR-4510	CLIP-seq
MIRT1385486	hsa-miR-4728-5p	CLIP-seq
MIRT1385487	hsa-miR-4739	CLIP-seq
MIRT1385488	hsa-miR-4756-5p	CLIP-seq
MIRT1385490	hsa-miR-491-5p	CLIP-seq
MIRT1385492	hsa-miR-939	CLIP-seq
MIRT2460467	hsa-miR-214	CLIP-seq
MIRT2460468	hsa-miR-3136-3p	CLIP-seq
MIRT2460469	hsa-miR-3619-5p	CLIP-seq
MIRT2460470	hsa-miR-4291	CLIP-seq
MIRT2460471	hsa-miR-4749-3p	CLIP-seq
MIRT2460472	hsa-miR-761	CLIP-seq
MIRT2460473	hsa-miR-922	CLIP-seq
MIRT2460467	hsa-miR-214	CLIP-seq
MIRT2460468	hsa-miR-3136-3p	CLIP-seq
MIRT2460469	hsa-miR-3619-5p	CLIP-seq
MIRT2460470	hsa-miR-4291	CLIP-seq
MIRT2460471	hsa-miR-4749-3p	CLIP-seq
MIRT2460472	hsa-miR-761	CLIP-seq
MIRT2460473	hsa-miR-922	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	2313285, 17965014, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	15998642
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005886	Component	Plasma membrane	IDA	16829952, 19114711, 21896273
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	16829951, 17965014
GO:0008233	Function	Peptidase activity	IEA
GO:0010008	Component	Endosome membrane	IDA	15998642
GO:0010008	Component	Endosome membrane	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IDA	2313285
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	IBA
GO:0030660	Component	Golgi-associated vesicle membrane	IDA	17965014
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IDA	16829951, 19114711
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IMP	16829952, 22194595
GO:0033619	Process	Membrane protein proteolysis	IBA
GO:0033619	Process	Membrane protein proteolysis	IDA	2313285
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IBA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IDA	2313285
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IMP	16873890
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IMP	19114711, 22194595
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	15385547, 15998642, 16873890
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0050776	Process	Regulation of immune response	IMP	16829952
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
608239	30627	ENSG00000005206

Q8TCT7

Protein name

Signal peptide peptidase-like 2B (SPP-like 2B) (SPPL2b) (EC 3.4.23.-) (Intramembrane protease 4) (IMP-4) (Presenilin homologous protein 4) (PSH4) (Presenilin-like protein 1)

Protein function

Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing (PubMed:16829951, PubMed:16829952, PubMed:17965014, PubMed:19114711,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02225	PA	66 → 151	PA domain	Family
PF04258	Peptidase_A22B	213 → 505	Signal peptide peptidase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in adrenal cortex and mammary gland. {ECO:0000269|PubMed:15385547}.

Sequence

MAAAVAAALARLLAAFLLLAAQVACEYGMVHVVSQAGGPEGKDYCILYNPQWAHLPHDLS
KASFLQLRNWTASLLCSAADLPARGFSNQIPLVARGNCTFYEKVRLAQGSGARGLLIVSR
ERLVPPGGNKTQYDEIGIPVALLSYKDMLDIFTRFGRTVRAALYAPKEPVLDYNMVIIFI
MAVGTVAIGGYWAGSRDVKKRYMKHKRDDGPEKQEDEAVDVTPVMTCVFVVMCCSMLVLL
YYFYDLLVYVVIGIFCLASATGLYSCLAPCVRRLPFGKCRIPNNSLPYFHKRPQARMLLL
ALFCVAVSVVWGVFRNEDQWAWVLQDALGIAFCLYMLKTIRLPTFKACTLLLLVLFLYDI
FFVFITPFLTKSGSSIMVEVATGPSDSATREKLPMVLKVPRLNSSPLALCDRPFSLLGFG
DILVPGLLVAYCHRFDIQVQSSRVYFVACTIAYGVGLLVTFVALALMQRGQPALLYLVPC
TLVTSCAVALWRRELGVFWTGSGFAKVLPPSPWAPAPADGPQPPKDSATPLSPQPPSEEP
ATSPWPAEQSPKSRTSEEMGAGAPMREPGSPAESEGRDQAQPSPVTQPGASA

Sequence length

592

Interactions

View interactions

	Reactome
			Regulation of TNFR1 signaling

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	18768471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	17965014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	18768471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26469904	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SPPL2B (signal peptide peptidase like 2B)