Official symbol | INVS |
Gene id | 27130 |
Organism | Homo sapiens |
Official full symbol | inversin |
Gene type | protein-coding |
Also known as | INV, NPH2, NPHP2 |
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. |
Genomic regions | Chromosome 9 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
INVS-202 | ENST00000262457.7 | 4897 | 1065aa | Protein coding | CCDS6746 | Q9Y283-1 | NM_014425.5 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
INVS-201 | ENST00000262456.6 | 2968 | 895aa | Protein coding | - | Q9Y283-2 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
INVS-203 | ENST00000374921.3 | 1654 | 101aa | Protein coding | - | Q9Y283-3 | - | TSL:1, GENCODE basic, |
INVS-204 | ENST00000460636.2 | 954 | No protein | Processed transcript | - | - | - | TSL:5, |
INVS-206 | ENST00000480309.1 | 862 | No protein | Processed transcript | - | - | - | TSL:3, |
INVS-205 | ENST00000466647.5 | 767 | No protein | Processed transcript | - | - | - | TSL:3, |
INVS-207 | ENST00000496467.5 | 714 | No protein | Processed transcript | - | - | - | TSL:2, |
Target Gene | INVS |
This KO Strategy | loading |
Red Cotton™ Notes | Gene INVS had been KO in hek293t cell line. |
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