INVS

GENE INFORMATION

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Gene name

INVS (HGNC Symbol)

Synonyms

NPHP2

Description

Inversin (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]

Chromosome

9

Cytoband

q31.1

Chromosome location (bp)

100099256 - 100301000

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000119509 (version 78.38)

Entrez gene

27130

UniProt

Q9Y283 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y283

Antibodypedia

INVS antibodies
 

PROTEIN VIEW

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INVS-001
 
INVS-005
 
INVS-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

INVS-001 ENSP00000262456
ENST00000262456
Q9Y283
Show all »
Show » Show » 895 99.6 No 0
INVS-005 ENSP00000262457
ENST00000262457
Q9Y283
Show all »
Show » Show » 1065 117.8 No 0
INVS-006 ENSP00000364056
ENST00000374921
Q9Y283
Show all »
Show » Show » 101 10.7 No 0