spastic paraplegia 21 (autosomal recessive, Mast syndrome)

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Synonym

BM-019, Maspardin, Acid cluster protein 33, MAST, GL010, ACP33, SPG21

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:60.40 cerebellum:12.60 brain stem:- corpus callosum/glia:29.20 pineal gland:- peripheral nerve:153.40 spine:- retina:- eye:99.90 artery/aorta:60 vein:133.30 lymphnode:60.70 peripheral blood:72.90 spleen:- thymus:51.50 bone marrow:39.40 adipose:80.70 bone:89.60 skin:182.40
GeneChip cerebrum:7.53 cerebellum:7.27 brain stem:7.57 corpus callosum/glia:8 pineal gland:- peripheral nerve:8.03 spine:8.07 retina:- eye:- artery/aorta:7.84 vein:7.99 lymphnode:8.06 peripheral blood:- spleen:8.10 thymus:7.94 bone marrow:8.35 adipose:8.22 bone:- skin:8.07
CAGE cerebrum:3.48 cerebellum:- brain stem:3.68 corpus callosum/glia:3.87 pineal gland:3.34 peripheral nerve:- spine:3.71 retina:- eye:- artery/aorta:3.74 vein:4.05 lymphnode:4.11 peripheral blood:- spleen:4.05 thymus:3.94 bone marrow:- adipose:4.17 bone:- skin:-
RNA-seq cerebrum:4.08 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:5.09 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:5.28 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:54.70 placenta:153 prostate:90.10 ovary:149.10 testis:56.20 heart:89.40 muscle:60.30 esophagus:- stomach:42.50 intestine:129.60 colon:110.20     liver/hepato:21.10        lung:88    bladder:- kidney:20.80 pituitary:- thyroid/parathyroid:163.70 adrenal gland:101.60 pancreas:151.10 breast:92.90 salivary:328.40
GeneChip uterus:8.44 placenta:8.72 prostate:8.29 ovary:8.82 testis:7.86 heart:7.85 muscle:8.08 esophagus:8.12 stomach:8.09 intestine:8.20 colon:8.26 liver/hepato:8.61 lung:8.41 bladder:- kidney:8.65 pituitary:8.22 thyroid/parathyroid:8.92 adrenal gland:7.98 pancreas:7.64 breast:8.47 salivary:8.22
CAGE uterus:4.06 placenta:4.42 prostate:4.08 ovary:4.22 testis:4.14 heart:3.88 muscle:3.92 esophagus:4.00 stomach:- intestine:4.25 colon:3.89     liver/hepato:4.62    lung:4.35 bladder:4.07 kidney:4.19 pituitary:3.98 thyroid/parathyroid:4.45 adrenal gland:- pancreas:3.82 breast:4.57 salivary:4.25
RNA-seq uterus:- placenta:- prostate:5.61 ovary:5.66 testis:5.11 heart:4.11 muscle:4.34 esophagus:- stomach:- intestine:- colon:5.29     liver/hepato:4.71        lung:4.95    bladder:- kidney:5.44 pituitary:- thyroid/parathyroid:5.46 adrenal gland:5.19 pancreas:- breast:5.32 salivary:-

Gene Information

IDs

Refseq ID NM_001127889
Gene ID 51324
Unigene ID Hs.242458
Probe set ID 217827_s_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000090487
GTEx ID ENSG00000090487

Orthologous Gene

Mouse[1]  NM_138584
Rat[1]  NM_001006987

Chromosomal Region

15q22.31  [65,255,362  -  65,282,274]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

6024251
8125298
11113139
12477932
14564668
14702039
15342556
15489334
16189514
17207965
18029348
19184135
20301682
20368287
21139048
21205478
21906983
22505724
22939629
23000965

Gene Ontology  (GO ID)

Biological Process

GO:0050851  antigen receptor-mediated signaling pathway
GO:0008219  cell death

Cellular Component

GO:0005737  cytoplasm
GO:0005829  cytosol
GO:0010008  endosome membrane
GO:0005634  nucleus
GO:0030140  trans-Golgi network transport vesicle

Molecular Function

GO:0042609  CD4 receptor binding