INVS cdna clone

INVS cDNA Clone

Cat. Num. AAA1267134

• Gene Names: INVS; INV; NPH2; NPHP2
• Synonyms: INVS; INVS cDNA Clone; INVS cdna clone

• Sequence: ATGAACAAGTCAGAGAACCTGCTGTTTGCTGGTTCATCATTAGCATCACAAGTCCATGCTGCTGCCGTTAATGGAGATAAGGGTGCTCTACAGAGGCTCATCGTAGGAAACTCTGCTCTTAAAGACAAAGAAGATCAGTTTGGGAGAACACCACTTATGTATTGCGTGTTGGCTGACAGATTGGATTGTGCAGATGCTCTTCTGAAGGCAGGAGCAGATGTGAATAAAACTGACCATAGCCAGAGAACAGCCCTCCATCTTGCAGCCCAGAAGGGAAATTATCGTTTCATGAAACTCTTACTTACACGCAGAGCAAACTGGATGCAAAAGGATCTGGAAGAGATGACTCCTTTGCACTTGACCACCCGGCACAGGAGCCCTAAGTGTTTGGCACTTCTGCTGAAGTTTATGGCACCAGGAGAAGTGGATACACAGGATAAAAACAAGCAAACAGCTCTGCATTGGAGTGCCTACTACAATAACCCTGAGCATGTGAAGCTGCTCATCAAGCATGATTCTAACATTGGGATTCCTGATGTTGAAGGCAAGATCCCACTTCACTGGGCAGCCAACCATAAAGATCCAAGTGCTGTTCACACAGTGAGATGCATTCTGGATGCTGCTCCAACAGAGTCTTTACTGAACTGGCAAGACTACGAGGGTCGAACTCCTCTTCACTTTGCAGTTGCTGATGGGAATGTGACCGTGGTTGATGTCTTGACCTCATATGAAAGCTGCAATATAACGTCTTATGATAACTTATTTCGAACCCCACTGCACTGGGCAGCTTTATTAGGCCATGCACAGATTGTCCATCTCCTTTTAGAAAGAAATAAGTCTGGAACTATCCCATCTGACAGCCAAGGAGCCACACCTTTGCACTATGCTGCTCAGAGTAACTTTGCTGAAACGGTTAAAGTGTTTTTAAAACATCCTTCAGTGAAAGATGATTCAGACCTGGAAGGAAGAACATCCTTTATGTGGGCAGCTGGCAAAGGCAGTGATGATGTCCTTAGAACTATGCTGAGCTTAAAATCGGACATAGATATTAACATGGCTGACAAATATGGAGGTACAGCTTTGCATGCTGCTGCTCTTTCTGGCCATGTCAGCACCGTGAAGTTATTACTGGAAAATAATGCTCAAGTAGATGCTACTGATGTTATGAAACATACTCCACTTTTCCGAGCCTGTGAGATGGGACACAAAGATGTGATTCAGACACTCATTAAAGGTGGAGCAAGGGTAGATCTAGTTGACCAAGATGGACATTCTCTTCTACATTGGGCAGCACTGGGAGGAAATGCTGATGTTTGCCAGATATTAATAGAAAATAAGATCAATCCAAATGTCCAGGATTATGCAGGAAGAACCCCTTTGCAGTGTGCAGCATATGGAGGCTATATCAACTGCATGGCAGTTCTCATGGAAAACAATGCAGACCCTAACATTCAAGACCAAGAGGGAAGAACAGCTTTGCATTGGTCCTGCAACAATGGATACCTTGATGCCATTAAATTACTGCTAGACTTTGCTGCTTTCCCTAATCAGATGGAAAACAATGAAGAGAGATACACACCCCTTGATTATGCTTTGCTTGGTGAGCGCCATGAAGTGATCCAGTTCATGTTGGAGCACGGTGCCCTGTCCATCGCAGCCATACAAGACATCGCCGCCTTCAAAATCCAAGCTGTCTACAAAGGGTACAAGGTCAGAAAAGCCTTCCGAGACAGGAAAAATCTCCTCATGAAGCATGAACAGTTGAGAAAAGATGCTGCTGCCAAAAAGCGAGAGGAAGAAAACAAACGAAAAGAGGCAGAACAGCAAAAAGGAAGGCGGAGCCCAGATTCCTGCAGACCCCAGGCCCTTCCCTGTCTGCCTAGCACCCAGGATGTGCCCAGCAGGCAGAGCCGGGCCCCCAGCAAGCAGCCTCCTGCTGGCAACGTGGCCCAAGGCCCTGAGCCAAGAGACAGCAGAGGATCTCCAGGAGGGTCTCTAGGCGGAGCCCTCCAGAAGGAGCAGCATGTTTCCTCAGATTTGCAGGGAACAAACTCCAGAAGGCCAAATGAAACAGCCAGAGAACATTCTAAAGGCCAATCTGCTTGTGTCCACTTCAGACCCAATGAAGGCAGTGATGGAAGCAGGCATCCAGGAGTTCCCTCTGTTGAGAAGTCCAGAGGTGAGACAGCTGGCGATGAGCGGTGTGCAAAGGGGAAAGGCTTCGTGAAGCAGCCCTCCTGTATCAGGGTGGCTGGGCCTGATGAGAAAGGAGAGGACTCCAGGCGGGCAGCTGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCCAGCAGGCGGCATGACACAGAACCCAAGGCCAAATGTGCCCCCCAGAAAAGGCGCACTCAAGAGCTCAGAGGAGGAAGGTGCTCCCCGGCTGGTTCTAGCCGCCCTGGCAGTGCCCGGGGGGAGGCGGTCCATGCTGGGCAGAATCCTCCCCACCATCGTACACCAAGAAACAAAGTGACACAAGCCAAGCTCACAGGAGGGCTCTATTCACATTTGCCACAGAGCACAGAGGAGTTGAGGTCAGGAGCTAGGAGGCTGGAGACATCTACCCTGTCCGAGGACTTTCAGGTATCTAAGGAGACTGATCCAGCACCTGGTCCCCTCTCTGGGCAGAGTGTGAATATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTCAGAGAGAACGAAGGAGGAAGGAGCTGTTTCGCAAAAAGAACAAGGCAGCAGCAGTCATCCAGCGCGCCTGGCGAAGCTACCAGCTCAGGAAGCACCTGTCCCACCTTCGGCATATGAAGCAGCTTGGAGCTGGAGATGTGGACAGATGGAGGCAAGAGTCTACAGCATTGCTCCTCCAGGTTTGGAGGAAGGAACTGGAACTAAAATTCCCCCAAACCACTGCAGTAAGCAAGGCCCCCAAGAGTCCATCCAAGGGCACCTCAGGCACAAAGTCCACCAAGCACTCAGTGCTTAAGCAAATCTATGGTTGTTCTCACGAAGGGAAAATACATCATCCTACAAGATCTGTAAAAGCCTCTTCTGTGCTGCGTCTCAACTCAGTGAGCAACCTACAGTGTATACATCTCCTTGAGAACAGTGGAAGATCAAAGAACTTTTCTTATAACCTGCAATCAGCTACTCAGCCAAAAAACAAAACAAAACCTTGA
• Sequence Length: 3198

• Vector: Please Inquire

NCBI and Uniprot Product Information

• NCBI GI #: 84627490
• NCBI GeneID: 27130
• Molecular Weight: 10,748 Da
• NCBI Official Full Name: Homo sapiens inversin, transcript variant 1, mRNA
• NCBI Official Synonym Full Names: inversin
• NCBI Official Symbol: INVS
• NCBI Official Synonym Symbols: INV; NPH2; NPHP2
• NCBI Protein Information: inversin
• UniProt Protein Name: Inversin
• Protein Family: Inversin
• UniProt Gene Name: INVS
• UniProt Synonym Gene Names: INV; NPHP2
• UniProt Entry Name: INVS_HUMAN

NCBI Description

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]

Uniprot Description

INVS: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in INVS are the cause of nephronophthisis type 2 (NPHP2); also known as infantile nephronophthisis. NPHP2 is an autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes and by the presence of cortical microcysts. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 9q31

Molecular Function: protein binding

Disease: Nephronophthisis 2