IHH - Indian hedgehog signaling molecule Gene
Also Known as BDA1; HHG2
Species: Homo sapiens
About IHH
This gene has 1 transcript (splice variant), 219 orthologues, 2 paralogues and is associated with 6 phenotypes. Biased expression in endometrium (RPKM 15.6), colon (RPKM 13.1) and 7 other tissues.
Summary
This gene encodes a member of the Hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
IHH Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002181.4 | NP_002172.2 | indian hedgehog protein preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
21537345 | GOA |
| enables patched binding |
IDA
IDA: Inferred from direct assay
|
11472839 | GOA |
| enables patched binding |
IPI
IPI: Inferred from physical interaction
|
21537345 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20519495 | GOA |
| enables very-low-density lipoprotein particle binding |
IDA
IDA: Inferred from direct assay
|
20839884 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cartilage development |
IMP
IMP: Inferred from mutant phenotype
|
17889828 | GOA |
| involved in embryonic digit morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
17889828 | GOA |
| involved in positive regulation of smoothened signaling pathway |
IDA
IDA: Inferred from direct assay
|
24342078 | GOA |
| involved in skeletal system development |
IMP
IMP: Inferred from mutant phenotype
|
21537345 | GOA |
| involved in smoothened signaling pathway |
IDA
IDA: Inferred from direct assay
|
21537345 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
24342078 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
21537345 | GOA |
IHH Protein Structure
HH_signal: Hedgehog amino-terminal signalling domain (28 - 189)
Hint: Hint module (192 - 396)
- 0
- 100
- 200
- 300
- 411 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
indian hedgehog protein |
|
IHH Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
IHH | Q14623 | BOC | Homo sapiens | Q9BWV1 | 20519495 | |
|
Intra
|
IHH | Q14623 | BOC | Homo sapiens | Q9BWV1 | 20519495 |
Recombinant IHH Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7204 | IHH Protein, Human | Q14623 (G29-G202) | ≥ 95%, as determined by reducing SDS-PAGE. |
IHH Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83266 | Ihh Antibody (YA3011) | WB, IHC-P | Human, Mouse |
| HY-P83266A | Ihh Antibody (YA3011)(PBS only) | WB, IHC-P | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acrocapitofemoral Dysplasia |
|
|
| Brachydactyly, Type A1 |
|
|
| Brachydactyly |
|
|
| Acrocallosal Syndrome |
|
|
| Hirschsprung Disease 1 |
|
|
| Brachydactyly, Type A1, D |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Brachydactyly, Type A4 |
|
|
| Metachondromatosis |
|
|
| Pancreas, Annular |
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
|
| Exostosis |
|
|
| Sugarman Brachydactyly |
|
|
| Hereditary Multiple Exostoses |
|
|
| Chronic Tympanitis |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Hypochondroplasia |
|
|
| Bone Development Disease |
|
|
| Craniosynostosis |
|
|
| Thanatophoric Dysplasia, Type I |
|
|
| Basal Cell Carcinoma |
|
|
| Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
|
| Multiple Enchondromatosis, Maffucci Type |
|
|
| Greig Cephalopolysyndactyly Syndrome |
|
|
| Culler-Jones Syndrome |
|
|
| Brachydactyly, Type A1, C |
|
|
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
|
| Pallister-Hall Syndrome |
|
|
| Skin Carcinoma |
|
|
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
|
| Brachydactyly, Type B1 |
|
|
| Acromesomelic Dysplasia |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
|
| Cartilage Disease |
|
|
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
|
| Osteochondrosis |
|
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
|
| Brachydactyly, Type A2 |
|
|
| Apert Syndrome |
|
|
| Ellis-Van Creveld Syndrome |
|
|
| Leri-Weill Dyschondrosteosis |
|
|
| Dysostosis |
|
|
| Campomelic Dysplasia |
|
|
| Cleidocranial Dysplasia |
|
|
| Synostosis |
|
|
| Laurin-Sandrow Syndrome |
|
|
| Infratentorial Cancer |
|
|
| Joubert Syndrome 32 |
|
|
| Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis |
|
|
| Osteochondrodysplasia |
|
|
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
|
| Cleft Palate, Isolated |
|
|
| Crouzon Syndrome |
|
|
| Holoprosencephaly |
|
|
| Autism Spectrum Disorder |
|
|
| Kallmann Syndrome |
|
|
| Orofacial Cleft |
|
|
| Brittle Bone Disorder |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | IHH | RGD | RGD:620021 |
| Felis catus | IHH | VGNC | VGNC:67749 |
| Bos taurus | IHH | VGNC | VGNC:30099 |
| Mus musculus | IHH | MGD | MGI:96533 |
| Macaca mulatta | IHH | VGNC | VGNC:73702 |
| Others | IHH | NCBI |