HHIP
hedgehog interacting protein
Summary
This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13118928 | 4:145,486,389 | A/G | intergenic variant | association |
| rs13125694 | 4:145,566,848 | C/T | regulatory region variant | — |
| rs12507427 | 4:145,567,471 | T/A | regulatory region variant | — |
| rs1179081644 | 4:145,567,966 | C/G | — | uncertain significance |
| rs769538924 | 4:145,567,984 | A/T | — | uncertain significance |
| rs1578670476 | 4:145,568,003 | T/C | — | uncertain significance |
| rs7689420 | 4:145,568,352 | T/C | regulatory region variant | — |
| rs574807895 | 4:145,568,598 | G/T | — | — |
| rs747454126 | 4:145,573,842 | T/G | — | uncertain significance |
| rs1728455997 | 4:145,573,872 | A/G | — | uncertain significance |
| rs139538376 | 4:145,573,944 | T/C | — | uncertain significance |
| rs1812175 | 4:145,574,844 | A/C | — | — |
| rs2546178439 | 4:145,579,942 | G/T | — | uncertain significance |
| rs199620983 | 4:145,579,953 | A/G | — | uncertain significance |
| rs201325617 | 4:145,580,059 | A/G | — | uncertain significance |
| rs1355601 | 4:145,580,290 | C/T | — | — |
| rs147080443 | 4:145,580,847 | G/A | — | uncertain significance |
| rs61730970 | 4:145,580,866 | G/A | — | benign |
| rs754135826 | 4:145,580,881 | G/A | — | uncertain significance |
| rs200791041 | 4:145,580,923 | C/A | — | uncertain significance |
| rs202074993 | 4:145,580,926 | C/A | — | uncertain significance |
| rs6537302 | 4:145,588,116 | A/T | regulatory region variant | — |
| rs117072351 | 4:145,597,831 | C/T | intron variant | — |
| rs12507436 | 4:145,612,551 | C/A | intron variant | — |
| rs6812830 | 4:145,613,807 | G/T | — | — |
| rs6817771 | 4:145,626,414 | C/G | intron variant | — |
| rs2546220221 | 4:145,627,740 | G/A | — | uncertain significance |
| rs924204070 | 4:145,627,824 | A/G | — | uncertain significance |
| rs199613180 | 4:145,633,113 | A/C | — | uncertain significance |
| rs200734620 | 4:145,633,140 | A/G | — | uncertain significance |
| rs114688020 | 4:145,633,146 | C/T | — | conflicting classifications of pathogenicity |
| rs1056864290 | 4:145,635,442 | T/C | — | uncertain significance |
| rs201301761 | 4:145,635,481 | G/A | — | uncertain significance |
| rs76366317 | 4:145,635,510 | C/G | — | benign |
| rs754475589 | 4:145,636,532 | G/A | — | uncertain significance |
| rs6854783 | 4:145,643,079 | G/A | intron variant | — |
| rs1492820 | 4:145,650,021 | G/A | intron variant | — |
| rs780484878 | 4:145,655,895 | C/T | — | uncertain significance |
| rs200321873 | 4:145,655,922 | C/T | — | uncertain significance |
| rs1345300393 | 4:145,655,934 | C/A | — | uncertain significance |
| rs200566587 | 4:145,655,970 | G/A | — | uncertain significance |
| rs544633972 | 4:145,655,975 | G/A | — | uncertain significance |
| rs370099703 | 4:145,656,014 | G/A | — | uncertain significance |
| rs142555055 | 4:145,659,026 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.