Spg21
Gene Detail

Symbol

Name
ID

Spg21
spastic paraplegia 21 homolog (human)
MGI:106403

Synonyms

ACP33, BM-019, D9Wsu18e, GL010

Feature Type

protein coding gene

Genetic Map

Chromosome 9
35.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr9:65460937-65488470 bp, + strand From NCBI annotation of GRCm38   27534 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

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

Gene Tree: Spg21

Human
homologs

Human Homolog		SPG21, spastic paraplegia 21 (autosomal recessive, Mast syndrome)
NCBI Gene ID		51324
neXtProt AC		NX_Q9NZD8
Human Synonyms		ACP33, GL010, MAST
Human Chr (Location)		15q21-q22; chr15:64963021-64989946 (-)  GRCh38
Disease Associations		(1) Diseases Associated with Human SPG21

Mutations,
alleles, and
phenotypes

All mutations/alleles(11) : Gene trapped(9) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )

Interactions

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

View All

Gene Ontology
(GO)
classifications

All GO classifications: (7 annotations)

Process	biological_process
Component	cytoplasm, cytosol, ...
Function	CD4 receptor binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)

Data Summary: Results (46)    Tissues (5)    Images (19)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	40
RT-PCR	6

cDNA source data(84)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(86) cDNA(85) Primer pair(1)
Microarray probesets(3)

Other database
links

Ensembl Gene Model	ENSMUSG00000032388 (Evidence)
Entrez Gene	27965 (Evidence)
UniGene	272475
DFCI	TC1572743
DoTS	DT.535362, DT.97357082, DT.94263986
NIA Mouse Gene Index	U010637
Consensus CDS Project	CCDS23293.1
International Mouse Knockout Project Status	Spg21

Sequences

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

All sequences(47) RefSeq(4) UniProt(3)

Polymorphisms

SNPs within 2kb(224 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
InterPro	IPR026151	Maspardin
Protein Ontology	PR:000015519	maspardin

Graphical View of Protein Domain Structure

References

(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
All references(33)

Other
accession IDs

MGD-MRK-34096, MGI:2143397