GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
HUMAN:SHAN2
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | SHANK2 (synonyms: CORTBP1, KIAA1022, PROSAP1) | |
| Protein Name(s) | SH3 and multiple ankyrin repeat domains protein 2
Shank2 Cortactin-binding protein 1 CortBP1 Proline-rich synapse-associated protein 1 | |
| External Links | ||
| UniProt | Q9UPX8 | |
| EMBL | AB208025 AB208026 AP000590 AP001271 AP003783 AP005401 BC093885 BC112097 DQ152234 AB028945 AF141901 | |
| RefSeq | NP_036441.2 NP_573573.2 XP_005277987.1 XP_005277989.1 | |
| UniGene | Hs.268726 | |
| ProteinModelPortal | Q9UPX8 | |
| SMR | Q9UPX8 | |
| BioGrid | 116598 | |
| DIP | DIP-52255N | |
| IntAct | Q9UPX8 | |
| MINT | MINT-2822695 | |
| STRING | 9606.ENSP00000345193 | |
| DMDM | 254763402 | |
| MaxQB | Q9UPX8 | |
| PaxDb | Q9UPX8 | |
| PRIDE | Q9UPX8 | |
| DNASU | 22941 | |
| Ensembl | ENST00000409530 ENST00000423696 ENST00000601538 | |
| GeneID | 22941 | |
| KEGG | hsa:22941 | |
| UCSC | uc001opz.3 uc001oqc.3 | |
| CTD | 22941 | |
| GeneCards | GC11M070313 | |
| GeneReviews | SHANK2 | |
| H-InvDB | HIX0171293 | |
| HGNC | HGNC:14295 | |
| HPA | HPA008174 | |
| MIM | 603290 613436 | |
| neXtProt | NX_Q9UPX8 | |
| Orphanet | 106 | |
| PharmGKB | PA37867 | |
| eggNOG | NOG265246 | |
| GeneTree | ENSGT00510000046474 | |
| HOGENOM | HOG000293276 | |
| HOVERGEN | HBG054027 | |
| InParanoid | Q9UPX8 | |
| KO | K15009 | |
| PhylomeDB | Q9UPX8 | |
| SignaLink | Q9UPX8 | |
| ChiTaRS | SHANK2 | |
| GeneWiki | SHANK2 | |
| GenomeRNAi | 22941 | |
| NextBio | 43691 | |
| PRO | PR:Q9UPX8 | |
| Proteomes | UP000005640 | |
| Bgee | Q9UPX8 | |
| CleanEx | HS_SHANK2 | |
| ExpressionAtlas | Q9UPX8 | |
| Genevestigator | Q9UPX8 | |
| GO | GO:0016324 GO:0031526 GO:0030054 GO:0060170 GO:0005737 GO:0043197 GO:0030426 GO:0043005 GO:0043025 GO:0001917 GO:0001750 GO:0005886 GO:0014069 GO:0045211 GO:0030160 GO:0035255 GO:0030534 GO:0007612 GO:0060292 GO:0060291 GO:0035176 GO:0007416 GO:0071625 | |
| Gene3D | 1.10.150.50 2.30.42.10 | |
| InterPro | IPR001478 IPR001660 IPR013761 IPR021129 IPR011511 IPR001452 | |
| Pfam | PF00595 PF00536 PF07653 | |
| SMART | SM00228 SM00454 SM00326 | |
| SUPFAM | SSF47769 SSF50044 SSF50156 | |
| PROSITE | PS50106 PS50105 PS50002 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0071625 |
vocalization behavior |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0060292 |
long-term synaptic depression |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0060291 |
long-term synaptic potentiation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0060170 |
ciliary membrane |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
colocalizes_with |
GO:0045211 |
postsynaptic membrane |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0043197 |
dendritic spine |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0043025 |
neuronal cell body |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0043005 |
neuron projection |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
part_of:(CL:0002608) |
Seeded From UniProt |
complete | ||
|
enables |
GO:0035255 |
ionotropic glutamate receptor binding |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0035176 |
social behavior |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0031526 |
brush border membrane |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0030534 |
adult behavior |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0030426 |
growth cone |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016324 |
apical plasma membrane |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0014069 |
postsynaptic density |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
colocalizes_with |
GO:0008328 |
ionotropic glutamate receptor complex |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007612 |
learning |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007416 |
synapse assembly |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005886 |
plasma membrane |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
colocalizes_with |
GO:0005883 |
neurofilament |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0001917 |
photoreceptor inner segment |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0001750 |
photoreceptor outer segment |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0030160 |
GKAP/Homer scaffold activity |
ECO:0000303 |
author statement without traceable support used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005575 |
cellular_component |
ECO:0000307 |
no biological data found used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:2000463 |
positive regulation of excitatory postsynaptic potential |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:2000311 |
regulation of AMPA receptor activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:3613677 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0097107 |
postsynaptic density assembly |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0060999 |
positive regulation of dendritic spine development |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0060997 |
dendritic spine morphogenesis |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0060291 |
long-term synaptic potentiation |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0051968 |
positive regulation of synaptic transmission, glutamatergic |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0051124 |
synaptic growth at neuromuscular junction |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0040752 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0048854 |
brain morphogenesis |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
colocalizes_with |
GO:0045211 |
postsynaptic membrane |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:2671987 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0044309 |
neuron spine |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0043197 |
dendritic spine |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:2671987 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0043005 |
neuron projection |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0035255 |
ionotropic glutamate receptor binding |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
F |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0030425 |
dendrite |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:3613677 |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0030160 |
GKAP/Homer scaffold activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:3613677 |
F |
Seeded From UniProt |
complete | ||
|
enables |
GO:0030159 |
receptor signaling complex adaptor activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN001191878 |
F |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0014069 |
postsynaptic density |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0040752 |
C |
Seeded From UniProt |
complete | ||
|
colocalizes_with |
GO:0008328 |
ionotropic glutamate receptor complex |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:2671987 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0007416 |
synapse assembly |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1930016 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005829 |
cytosol |
Reactome:R-HSA-6797554 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0017124 |
SH3 domain binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0030054 |
cell junction |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0045211 |
postsynaptic membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0045202 |
synapse |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005886 |
plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0030426 |
growth cone |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0043197 |
dendritic spine |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016324 |
apical plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0014069 |
postsynaptic density |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 Berkel, S et al. (2010) Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat. Genet. 42 489-91 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 Won, H et al. (2012) Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature 486 261-5 PubMed GONUTS page
- ↑ Lim, S et al. (1999) Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. J. Biol. Chem. 274 29510-8 PubMed GONUTS page
- ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 4.11 4.12 4.13 4.14 4.15 4.16 4.17 4.18 4.19 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
c
i
l
n
p
- GO:0001750 ! photoreceptor outer segment
- GO:0001917 ! photoreceptor inner segment
- GO:0005886 ! plasma membrane
- GO:0051968 ! positive regulation of synaptic transmission, glutamatergic
- GO:2000463 ! positive regulation of excitatory postsynaptic potential
- GO:0060999 ! positive regulation of dendritic spine development
- GO:0097107 ! postsynaptic density assembly
- GO:0014069 ! postsynaptic density
- GO:0045211 ! postsynaptic membrane
- Primates
s
