Spg7 MGI Mouse Gene Detail - MGI:2385906 - SPG7, paraplegin matrix AAA peptidase subunit

Symbol

Spg7
Name

SPG7, paraplegin matrix AAA peptidase subunit
Synonyms

Cmar, paraplegin, spastic paraplegia 7 homolog (human)

Feature Type

protein coding gene
IDs

MGI:2385906
NCBI Gene: 234847
Alliance

genome feature page
Transcription Start Sites

1 TSS

Sequence Map

Chr8:123792247-123824499 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 72.04 cM
Mapping Data

2 experiments

SNPs within 2kb

873 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2385906	protein coding gene	Chr8:123789681-123824499 (+)
129S1/SvImJ	ENSMUSG00200041263	protein coding gene	Chr8:118124615-118157414 (+)
A/J	ENSMUSG00195025979	protein coding gene	Chr8:118420286-118452877 (+)
AKR/J	ENSMUSG00220036983	protein coding gene	Chr8:118611403-118643992 (+)
BALB/cJ	ENSMUSG00180021956	protein coding gene	Chr8:118466305-118498892 (+)
C3H/HeJ	ENSMUSG00175028072	protein coding gene	Chr8:118523318-118555908 (+)
C57BL/6NJ	ENSMUSG00215022573	protein coding gene	Chr8:118098204-118130793 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031675	protein coding gene	Chr8:114216599-114261720 (+)
CAST/EiJ	ENSTCUG00005028330	protein coding gene	Chr8:117844057-117876306 (+)
CBA/J	ENSMUSG00210035902	protein coding gene	Chr8:118450650-118483230 (+)
DBA/2J	ENSMUSG00185034085	protein coding gene	Chr8:124555590-124588171 (+)
FVB/NJ	ENSMUSG00205028320	protein coding gene	Chr8:117416856-117449441 (+)
JF1/MsJ	ENSUMUG00000016341	protein coding gene	Chr8:126860169-126892676 (+)
LP/J	ENSMUSG00230030636	protein coding gene	Chr8:128176028-128208831 (+)
NOD/ShiLtJ	ENSMUSG00190017709	protein coding gene	Chr8:118551134-118583712 (+)
NZO/HlLtJ	ENSMUSG00225042109	protein coding gene	Chr8:131556059-131588641 (+)
PWK/PhJ	ENSLUMG00010035778	protein coding gene	Chr8:118264394-118296931 (+)
SPRET/EiJ	ENSMSPG00010035516	protein coding gene	Chr8:120447002-120482073 (+)
WSB/EiJ	ENSIUOG00005026712	protein coding gene	Chr8:119241476-119274037 (+)

Human Ortholog

SPG7, SPG7 matrix AAA peptidase subunit, paraplegin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPG7, SPG7 matrix AAA peptidase subunit, paraplegin
Synonyms

CAR, CMAR, PGN, SPG5C
Links

HGNC:11237

NCBI Gene ID: 6687

UniProt: Q9UQ90
Chr Location

16q24.3; chr16:89490719-89557768 (+) GRCh38

MGI Vertebrate Homology

Spg7 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SPG7
Gene Tree

Spg7

Diseases

1 with Spg7 mouse models; 1 with human SPG7 associations

Human Disease

Mouse Models

hereditary spastic paraplegia 7

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
12 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

9
Endonuclease-mediated

5
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

32 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems.

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All GO Annotations

50
GO References

15

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

614
Tissues

8
cDNA Data

91
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 spg7

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All Sequences

87
RefSeq

5
UniProt

8
CCDS

CCDS40508.1

Ensembl

ENSMUSG00000000738 (Evidence)
NCBI Gene

234847

			Length	Strain/Species	Flank
genomic	234847	NCBI Gene Model \| MGI Sequence Detail	32253	C57BL/6J	± kb
transcript	NR_157166	RefSeq \| MGI Sequence Detail	2616	C57BL/6
polypeptide	Q3ULF4	UniProt \| EBI \| MGI Sequence Detail	781	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000015520 mitochondrial inner membrane m-AAA protease component paraplegin

(term hierarchy)
EC

3.4.24.-, 3.6.-.-
InterPro Domains

IPR041569 AAA ATPase, AAA+ lid domain

IPR003593 AAA+ ATPase domain

IPR003959 ATPase, AAA-type, core

IPR050928 ATP-dependent Zinc Metalloprotease

IPR005936 ATP-dependent zinc metalloprotease, FtsH

IPR000642 Peptidase M41

IPR011546 Peptidase M41, FtsH extracellular

IPR037219 Peptidase M41-like

IPR027417 P-loop containing nucleoside triphosphate hydrolase

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All nucleic 93

Genomic 1

cDNA 92

Antibodies 1

Microarray probesets 3

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MGI:1927352, MGI:2142555, MGI:2142674

Summaries

All 53

Developmental Gene Expression 2

Diseases 1

Gene Ontology 15

Phenotypes 12
Earliest

J:45282 Molla A, et al., Cotranscription of two RNA coding for the cell adhesion regulator and its variant in Reh leukemia cells. Biochim Biophys Acta. 1996 Jan 17;1315(1):6-8
Latest

J:379458 Zhang M, et al., Afg3l2 couples mitochondrial vitamin B12 trafficking to amino acid metabolism to safeguard hematopoietic stem cell homeostasis. Cell Rep. 2026 Jan 27;45(1):116735

TSS for Spg7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79910	Chr8:123792229-123792268 (+)	2 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24