HHIP
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606178 Ensembl IDEnsembl:ENSG00000164161 HGNC IDHGNC:HGNC:14866 PHARMGKB IDPA29276 Map Location4q31.21 | |||||
GO terms in HHIP
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003824 | catalytic activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008270 | zinc ion binding |
| MF | IBA | GO:0097108 | hedgehog family protein binding |
| MF | IPI | GO:0097108 | hedgehog family protein binding |
| BP | IEA | GO:0007224 | smoothened signaling pathway |
Gene expression in normal tissue: HHIP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HHIP
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-5358351 | Signaling by Hedgehog |
| reactome | R-HSA-5632681 | Ligand-receptor interactions |
| reactome | R-HSA-5632684 | Hedgehog 'on' state |
| netpath | Pathway_Hedgehog | Hedgehog |
| pid | hedgehog_2pathway | Signaling events mediated by the Hedgehog family |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HHIP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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