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HUMAN:INVS

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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

PMID:18371931[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0966

C

Seeded From UniProt

complete

part_of

GO:0005856

cytoskeleton

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0206
UniProtKB-SubCell:SL-0090

C

Seeded From UniProt

complete

involved_in

GO:0016055

Wnt signaling pathway

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0879

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472
UniProtKB-SubCell:SL-0162

C

Seeded From UniProt

complete

involved_in

GO:0007275

multicellular organism development

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0217

P

Seeded From UniProt

complete

part_of

GO:0005874

microtubule

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0493

C

Seeded From UniProt

complete

enables

GO:0005516

calmodulin binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0112

F

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0969
UniProtKB-SubCell:SL-0066

C

Seeded From UniProt

complete

part_of

GO:0005819

spindle

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0251

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 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