SPPL2C - signal peptide peptidase like 2C Gene

Homo sapiens

Also known as IMP5

Gene ID: 162540 | Gene type: protein coding

About SPPL2C

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:45,844,881-45,847,067 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 71 orthologues and 4 paralogues.

Summary

Enables protein homodimerization activity. Predicted to be involved in membrane protein proteolysis. Located in endoplasmic reticulum membrane. Is integral component of cytoplasmic side of endoplasmic reticulum membrane and integral component of lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

SPPL2C Products(1)

mRNA	Protein	Name
NM_175882.3	NP_787078.2	signal peptide peptidase-like 2C precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15385547	GOA

Biological Process GO Annotation	Evidence	Reference	Source
NOT involved in membrane protein ectodomain proteolysis	IMP IMP: Inferred from mutant phenotype	17965014	GOA
NOT involved in membrane protein intracellular domain proteolysis	IMP IMP: Inferred from mutant phenotype	16829952	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16829952	GOA
located in lumenal side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPPL2C Protein Structure

Peptidase_A22B

0
200
400
600
684 a.a.

Protein Preferred Names

Protein Names

signal peptide peptidase-like 2C

IMP-5

Related Diseases

Diseases

Alias

Chromosome 17q21.31 Duplication Syndrome

17q21.31 Microduplication Syndrome	Trisomy 17q21.31
Dup(17)(Q21.31)

Koolen-De Vries Syndrome

KDVS	17q21.31 Microdeletion Syndrome
Microdeletion 17q21.31 Syndrome	Chromosome 17q21.31 Deletion Syndrome
Koolen De Vries Syndrome	Kansl1-Related Intellectual Disability Syndrome
Chromosome 17q21.31 Microdeletion Syndrome	Monosomy 17q21.31
17q21.31 Deletion Syndrome	Koolen Syndrome
Del(17)(Q21.31)

Caplan'S Syndrome

Caplan Syndrome	Caplan'S Disease
Caplans Syndrome	Rheumatoid Pneumoconiosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13706	SPPL2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SPPL2C	VGNC	VGNC:46760
Bos taurus	SPPL2C	VGNC	VGNC:35236
Macaca mulatta	SPPL2C	VGNC	VGNC:104659
Mus musculus	SPPL2C	MGD	MGI:3045264
Felis catus	SPPL2C	VGNC	VGNC:97643
Rattus norvegicus	SPPL2C	RGD	RGD:1560562

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