1. Gene
  2. SPPL2C - signal peptide peptidase like 2C Gene

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

SPPL2C Protein Structure

PA

PA: PA domain (83 - 163)

Peptidase_A22B

Peptidase_A22B: Signal peptide peptidase (250 - 527)

  • 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

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