amyotrophic lateral sclerosis 2 (juvenile)

 詳細情報を見る

同義遺伝子名

MGC87187, IAHSP, KIAA1563, FLJ31851, amyotrophic lateral sclerosis 2 (juvenile), Alsin, ALS2CR6, Amyotrophic lateral sclerosis protein 2, PLSJ, ALS2, ALSJ

発現データ

発現マップ on BodyParts3D

相対発現量を、人体 3D 画像にマップしたものです。Genechip 組織40分類 の発現パターンを使用しています。

組織40分類別データ

脳 血 結
EST 大脳:51 小脳:201.50 脳幹:- 脳梁:87.50 松果体:148.30 末梢神経:- 脊柱:- 網膜:- 目:23.50 動脈:30 静脈:- リンパ節:80.90 末梢血:- 脾臓:- 胸腺:25.80 骨髄:78.70 脂肪:- 骨:12.80 皮膚:76.80
GeneChip nodata
CAGE 大脳:3.44 小脳:- 脳幹:3.23 脳梁:3.25 松果体:3.16 末梢神経:- 脊柱:2.92 網膜:- 目:- 動脈:2.64 静脈:2.22 リンパ節:2.17 末梢血:- 脾臓:2.14 胸腺:2.16 骨髄:- 脂肪:2.88 骨:- 皮膚:-
RNA-seq 大脳:2.36 小脳:- 脳幹:- 脳梁:- 松果体:- 末梢神経:- 脊柱:- 網膜:- 目:- 動脈:- 静脈:- リンパ節:1.31 末梢血:- 脾臓:- 胸腺:- 骨髄:- 脂肪:1.70 骨:- 皮膚:-
殖 筋 消 肝 肺 腎 泌
EST 子宮:9.10 胎盤:14.60 前立腺:33.80 卵巣:- 精巣:26 心臓:38.30 骨格筋:60.30 食道:- 胃:21.20 腸:- 結腸:17     肝臓:10.60        肺:53.80    膀胱:- 腎臓:41.60 下垂体:- 甲状腺:- 副腎:- 膵臓:8.90 乳腺:65.10 唾液腺:-
GeneChip nodata
CAGE 子宮:3.12 胎盤:2.36 前立腺:2.56 卵巣:2.47 精巣:2.54 心臓:2.82 骨格筋:2.72 食道:2.24 胃:- 腸:2.81 結腸:2.34     肝臓:2.75    肺:2.63 膀胱:2.62 腎臓:2.63 下垂体:3.56 甲状腺:2.54 副腎:- 膵臓:2.71 乳腺:2.11 唾液腺:2.39
RNA-seq 子宮:- 胎盤:- 前立腺:1.79 卵巣:1.77 精巣:2.19 心臓:2.63 骨格筋:2.08 食道:- 胃:- 腸:- 結腸:1.41     肝臓:2.08        肺:1.54    膀胱:- 腎臓:2.17 下垂体:- 甲状腺:1.92 副腎:1.41 膵臓:- 乳腺:1.58 唾液腺:-

詳細情報

IDs

Refseq ID NM_020919
Gene ID 57679
Unigene ID Hs.471096
Probe set ID -
Ensembl ID ENSG00000003393
GTEx ID ENSG00000003393

オーソログ対応遺伝子

マウス[10]  NM_001159948, NM_028717, NM_146109
ラット[1]  NM_001013413, NM_028717, NM_146109

染色体

2q33.1  [202,565,277  -  202,645,912]

遺伝子ファミリー (Interpro ID)

IPR003123  Vacuolar sorting protein 9

Link to Pubmed  (Pubmed ID)

8889548
9889004
9933298
10997877
11586297
11586298
11687798
12138710
12145748
12168954
12477932
12601111
12837691
12866199
12919135
14668431
14676054
14702039
14970233
15247254
15324660
15342556
15371724
15388334
15489334
15579468
16049005
16085057
16249884
16670179
17239822
17698795
17955197
18523452
18810511
19023603
19122027
20301421
20301623
20379614
21890473
21907703
23282280
23383273
24315819
24562058

遺伝子オントロジー  (GO ID)

Biological Process

GO:0007409  axonogenesis
GO:0001662  behavioral fear response
GO:0008219  cell death
GO:0007032  endosome organization
GO:0016197  endosome transport
GO:0001701  in utero embryonic development
GO:0007626  locomotory behavior
GO:0007528  neuromuscular junction development
GO:0048812  neuron projection morphogenesis
GO:0045860  positive regulation of protein kinase activity
GO:0032855  positive regulation of Rac GTPase activity
GO:0035022  positive regulation of Rac protein signal transduction
GO:0008104  protein localization
GO:0016601  Rac protein signal transduction
GO:0001881  receptor recycling
GO:0051036  regulation of endosome size
GO:0032313  regulation of Rab GTPase activity
GO:0006979  response to oxidative stress
GO:0035249  synaptic transmission, glutamatergic
GO:0016050  vesicle organization

Cellular Component

GO:0030424  axon
GO:0043025  cell soma
GO:0005813  centrosome
GO:0005829  cytosol
GO:0030425  dendrite
GO:0043197  dendritic spine
GO:0005769  early endosome
GO:0030426  growth cone
GO:0030027  lamellipodium
GO:0016020  membrane
GO:0014069  postsynaptic density
GO:0043234  protein complex
GO:0001726  ruffle
GO:0031982  vesicle

Molecular Function

GO:0005085  guanyl-nucleotide exchange factor activity
GO:0005543  phospholipid binding
GO:0042803  protein homodimerization activity
GO:0043539  protein serine/threonine kinase activator activity
GO:0017137  Rab GTPase binding
GO:0017112  Rab guanyl-nucleotide exchange factor activity
GO:0030676  Rac guanyl-nucleotide exchange factor activity
GO:0005087  Ran guanyl-nucleotide exchange factor activity