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HUMAN:INVS
Contents
Species (Taxon ID) | Homo sapiens (Human). (9606) | |
Gene Name(s) | INVS (synonyms: INV, NPHP2) | |
Protein Name(s) | Inversin
Inversion of embryo turning homolog Nephrocystin-2 | |
External Links | ||
UniProt | Q9Y283 | |
EMBL | AF039217 AF084367 AF084382 AF084373 AF084374 AF084375 AF084377 AF084379 AF084381 AF084371 AF084369 AF084368 AF084370 AF084372 AF084380 AF084378 AF084376 AF084382 AF084368 AF084369 AF084370 AF084371 AF084372 AF084373 AF084374 AF084375 AF084376 AF084377 AF084378 AF084379 AF084380 AF084381 AL137072 AL356798 AL445214 AL137072 AL445214 AL137072 AL356798 AL445214 AL137072 AL356798 AL356798 AL137072 AL445214 AL356798 AL137072 AL445214 AL137072 AL356798 AL445214 CH471105 BC006370 BC041665 BC111761 | |
CCDS | CCDS6746.1 CCDS6747.1 | |
RefSeq | NP_055240.2 NP_899068.1 | |
UniGene | Hs.558477 | |
ProteinModelPortal | Q9Y283 | |
SMR | Q9Y283 | |
BioGrid | 118021 | |
IntAct | Q9Y283 | |
MINT | MINT-1196568 | |
STRING | 9606.ENSP00000262457 | |
PhosphoSite | Q9Y283 | |
DMDM | 68565551 | |
MaxQB | Q9Y283 | |
PaxDb | Q9Y283 | |
PRIDE | Q9Y283 | |
Ensembl | ENST00000262456 ENST00000262457 ENST00000374921 | |
GeneID | 27130 | |
KEGG | hsa:27130 | |
UCSC | uc004bao.2 uc004bap.2 | |
CTD | 27130 | |
GeneCards | GC09P102861 | |
HGNC | HGNC:17870 | |
HPA | HPA049994 | |
MIM | 243305 602088 | |
neXtProt | NX_Q9Y283 | |
Orphanet | 93591 3156 | |
PharmGKB | PA38472 | |
eggNOG | COG0666 | |
GeneTree | ENSGT00760000118950 | |
HOVERGEN | HBG083788 | |
InParanoid | Q9Y283 | |
OMA | NLQCIHL | |
OrthoDB | EOG7P02H2 | |
PhylomeDB | Q9Y283 | |
TreeFam | TF312824 | |
SignaLink | Q9Y283 | |
ChiTaRS | INVS | |
GeneWiki | INVS | |
GenomeRNAi | 27130 | |
NextBio | 49848 | |
PRO | PR:Q9Y283 | |
Proteomes | UP000005640 | |
Bgee | Q9Y283 | |
CleanEx | HS_INVS | |
ExpressionAtlas | Q9Y283 | |
Genevestigator | Q9Y283 | |
GO | GO:0005929 GO:0005737 GO:0016020 GO:0005874 GO:0005634 GO:0005819 GO:0060971 GO:0001822 GO:0090090 GO:0031016 GO:0009791 GO:0016055 | |
Gene3D | 1.25.40.20 | |
InterPro | IPR002110 IPR020683 IPR000048 | |
Pfam | PF00023 PF12796 PF00612 | |
PRINTS | PR01415 | |
SMART | SM00248 SM00015 | |
SUPFAM | SSF48403 | |
PROSITE | PS50297 PS50088 PS50096 |
Annotations
Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|---|---|
involved_in |
GO:0090090 |
negative regulation of canonical Wnt signaling pathway |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
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:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0016055 |
Wnt signaling pathway |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
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:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007275 |
multicellular organism development |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005874 |
microtubule |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0005516 |
calmodulin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005929 |
cilium |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005819 |
spindle |
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.
- ↑ Bergmann, C et al. (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am. J. Hum. Genet. 82 959-70 PubMed GONUTS page