Sppl2a MGI Mouse Gene Detail - MGI:1913802 - signal peptide peptidase like 2A

Symbol

Sppl2a
Name

signal peptide peptidase like 2A
Synonyms

2010106G01Rik, C130089K23Rik

Feature Type

protein coding gene
IDs

MGI:1913802
NCBI Gene: 66552
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr2:126732311-126775155 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.76 cM, cytoband F3
Mapping Data

3 experiments

SNPs within 2kb

972 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1913802	protein coding gene	Chr2:126732311-126775706 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026446	protein coding gene	Chr2:130129928-130174139 (-)
A/J	MGP_AJ_G0026410	protein coding gene	Chr2:124862534-124906051 (-)
AKR/J	MGP_AKRJ_G0026385	protein coding gene	Chr2:128425829-128471443 (-)
BALB/cJ	MGP_BALBcJ_G0026422	protein coding gene	Chr2:125133874-125176400 (-)
C3H/HeJ	MGP_C3HHeJ_G0026165	protein coding gene	Chr2:128938067-128983174 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026867	protein coding gene	Chr2:134260975-134303544 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024244	protein coding gene	Chr2:119581131-119623922 (-)
CAST/EiJ	MGP_CASTEiJ_G0025626	protein coding gene	Chr2:129149675-129195193 (-)
CBA/J	MGP_CBAJ_G0026145	protein coding gene	Chr2:139194107-139243902 (-)
DBA/2J	MGP_DBA2J_G0026279	protein coding gene	Chr2:124276493-124319685 (-)
FVB/NJ	MGP_FVBNJ_G0026243	protein coding gene	Chr2:122927886-122972352 (-)
LP/J	MGP_LPJ_G0026384	protein coding gene	Chr2:130380816-130424060 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026263	protein coding gene	Chr2:143254821-143299746 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026922	protein coding gene	Chr2:128464387-128508566 (-)
PWK/PhJ	MGP_PWKPhJ_G0025362	protein coding gene	Chr2:123818692-123862696 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025164	protein coding gene	Chr2:127537039-127580099 (-)
WSB/EiJ	MGP_WSBEiJ_G0025700	protein coding gene	Chr2:129347569-129394281 (-)

Human Ortholog

SPPL2A, signal peptide peptidase like 2A

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPPL2A, signal peptide peptidase like 2A
Synonyms

IMD86, IMP3, PSL2
Links

HGNC:30227

NCBI Gene ID: 84888

neXtProt AC: NX_Q8TCT8

UniProt: Q8TCT8
Chr Location

15q21.2; chr15:50702266-50765948 (-) GRCh38

MGI Vertebrate Homology

Sppl2a stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: SPPL2A
Gene Tree

Sppl2a

Diseases

1 with human SPPL2A associations

				Human Disease	Mouse Models
				primary immunodeficiency disease IDs primary immunodeficiency disease DOID:612 ICD10CM:D84.9 ICD9CM:279.3 KEGG:05340 MESH:D007153 NCI:C39725 OMIM:242850 OMIM:PS300755 UMLS_CUI:C0021051

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

34 phenotypes from 6 alleles in 6 genetic backgrounds
11 phenotypes from multigenic genotypes
4 images
23 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

20
Chemically induced (ENU)

4
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

6
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Sppl2a
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes.

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All GO Annotations

33
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

780
Tissues

18
cDNA Data

120
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sppl2a

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All Sequences

62
RefSeq

14
UniProt

4
CCDS

CCDS16690.1

Ensembl

ENSMUSG00000027366 (Evidence)
NCBI Gene

66552

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027366	Ensembl Gene Model \| MGI Sequence Detail	42845	C57BL/6J	± kb
transcript	ENSMUST00000028844	Ensembl \| MGI Sequence Detail	5616	Not Applicable
polypeptide	ENSMUSP00000028844	Ensembl \| MGI Sequence Detail	523	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000015563 signal peptide peptidase-like 2A

(term hierarchy)
EC

3.4.23.-
InterPro Domains

IPR003137 PA domain

IPR046450 PA domain superfamily

IPR007369 Peptidase A22B, signal peptide peptidase

IPR006639 Presenilin/signal peptide peptidase
GlyGen

Q9JJF9 6 sites, 5 N-linked glycans (6 sites)

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All nucleic 121

cDNA 121

Microarray probesets 7

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MGI:2442382

Summaries

All 52

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 23
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:329412 Ballin M, et al., The intramembrane proteases SPPL2a and SPPL2b regulate the homeostasis of selected SNARE proteins. FEBS J. 2022 Sep 1;

TSS for Sppl2a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr26090	Chr2:126775787-126775800 (-)	-639 bp
Tssr26089	Chr2:126775149-126775161 (-)	0 bp
Tssr26088	Chr2:126775135-126775147 (-)	14 bp
Tssr26087	Chr2:126775073-126775084 (-)	76 bp
Tssr26086	Chr2:126775042-126775053 (-)	107 bp
Tssr26085	Chr2:126774913-126775010 (-)	193 bp
Tssr26084	Chr2:126773821-126773826 (-)	1,331 bp
Tssr26083	Chr2:126768765-126768785 (-)	6,380 bp
Tssr26082	Chr2:126767747-126767758 (-)	7,402 bp
Tssr26081	Chr2:126767724-126767735 (-)	7,425 bp
Tssr26080	Chr2:126755023-126755042 (-)	20,122 bp
Tssr26079	Chr2:126752286-126752307 (-)	22,858 bp
Tssr26078	Chr2:126739599-126739600 (-)	35,555 bp
Tssr26077	Chr2:126736022-126736025 (-)	39,131 bp
Tssr26076	Chr2:126734303-126734328 (-)	40,839 bp
Tssr26075	Chr2:126732896-126732907 (-)	42,253 bp
Tssr26074	Chr2:126732875-126732892 (-)	42,271 bp
Tssr26073	Chr2:126732797-126732816 (-)	42,348 bp
Tssr26072	Chr2:126732622-126732645 (-)	42,521 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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