inversin (inversion of embryo turning homolog, nephrocystin-2, INVS, INV, NPHP2)

Function

• required for normal renal development & establishment of left-right axis
• molecular switch between different Wnt signaling pathways (putative)
• inhibits canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin- proteasome
• required in renal development to oppose repression of terminal differentiation of tubular epithelial cells by Wnt signaling
• binds calmodulin via its IQ domains
• interacts with APC2
• interacts with alpha-catenin, beta-catenin, gamma-catenin
• interacts with N-cadherin (CDH2)
• interacts with microtubules
• interacts with NPHP1
• interacts with DVL1, PRICKLE (PRICKLE1 or PRICKLE2) & Strabismus (VANGL1 or VANGL2)

Structure

• contains 16 ANK repeats
• contains 2 IQ domains
• D-box 1 (destruction box 1) mediates interaction with APC2, may act as a recognition signal for degradation via ubiquitin-proteasome pathway

Compartment

• cytoplasm, cytoskeleton, spindle, peripheral membrane, nucleus
• associates with several components of cytoskeleton including ciliary, random & polarized microtubules
• during mitosis, recruited to mitotic spindle
• membrane localization is dependent upon cell-cell contacts & is redistributed when cell adhesion is disrupted

Alternative splicing

named isoforms=3

Expression

• widely expressed
• strongly expressed in primary cilia of renal tubular cells

Pathology

• defects in INVS are the cause of nephronophthisis 2

More general terms

• cytoskeletal protein

Database

• OMIM: https://mirror.omim.org/entry/243305
• OMIM: https://mirror.omim.org/entry/602088
• UniProt: http://www.uniprot.org/uniprot/Q9Y283.html