Spg21 MGI Mouse Gene Detail - MGI:106403 - spastic paraplegia 21 homolog (human)

Spg21 Gene Detail

Symbol

Spg21
Name

spastic paraplegia 21 homolog (human)
Synonyms

ACP33, BM-019, D9Wsu18e, GL010

Feature Type

protein coding gene
IDs

MGI:106403
NCBI Gene: 27965
Gene Overview

MyGene.info: SPG21

Sequence Map

Chr9:65460937-65488470 bp, + strand
From NCBI annotation of GRCm38

Mouse Genome Browser
Download
Sequence

27534 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 35.32 cM
Mapping Data

5 experiments

Human Ortholog

SPG21, spastic paraplegia 21 (autosomal recessive, Mast syndrome)

Vertebrate Orthologs

10

Human Ortholog

SPG21, spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Orthology source: HomoloGene, HGNC
Synonyms

ACP33, BM-019, GL010, MAST
Links

HGNC:20373

NCBI Gene ID: 51324

neXtProt AC: NX_Q9NZD8
Chr Location

15q22.31; chr15:64963021-64989946 (-) GRCh38.p2

HomoloGene

Vertebrate Homology Class 9603
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: SPG21
Gene Tree

Spg21

Diseases

1 with human SPG21 associations

				Human Disease	Mouse Models
				Mast Syndrome OMIM: 248900

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

less

Phenotype Summary

6 phenotype references

All Mutations and Alleles

12
Chemically induced (other)

1
Gene trapped

9
Targeted

2
Genomic Mutations

1 involving Spg21
Incidental Mutations

Mutagenetix , APF

less

All GO Annotations

5
GO References

1

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

less

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

46
Tissues

5
cDNA Data

84
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase spg21

ZFIN spg21

less

Spg21 interacts with 173 markers (Mir7-1, Mir10a, Mir17, ...) View All

less

All Sequences

43
RefSeq

4
UniProt

2
CCDS

CCDS23293.1
UniGene

272475

Ensembl

ENSMUSG00000032388 (Evidence)
NCBI Gene

27965

			Length	Strain/Species	Flank
genomic	27965	NCBI Gene Model \| MGI Sequence Detail	27534	C57BL/6J	± kb
transcript	NM_138584	RefSeq \| MGI Sequence Detail	2690	C57BL/6
polypeptide	Q9CQC8	UniProt \| EBI \| MGI Sequence Detail	308	Not Applicable

less

SNPs within 2kb

219 from dbSNP Build 142

less

UniProt

2 Sequences
Protein Ontology

PR:000015519 maspardin
InterPro Domains

IPR029058 Alpha/Beta hydrolase fold

IPR000073 Alpha/beta hydrolase fold-1

IPR026151 Maspardin

less

All nucleic 86

cDNA 85

Primer pair 1

Microarray probesets 3

less

MGD-MRK-34096, MGI:2143397

Summaries

All 29

Developmental Gene Expression 2

Gene Ontology 1

Phenotypes 6
Earliest

J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
Latest

J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 09/20/2016 MGI 6.05