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Gene : IHH Homo sapiens

Name  ? Indian hedgehog signaling molecule Cytological Location  2q35
Brief Description  Indian hedgehog signaling molecule
Description  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]
  • synonyms:
  • NM_002181,
  • BDA1,
  • HHG2,
  • BDA1,
  • HHG2,
  • L38517,
  • Indian hedgehog (Drosophila) homolog,
  • uc002vjo.3,
  • OTTHUMG00000154631,
  • IHH,
  • HGNC:5956
  • identifiers:
  • 3549,
  • ENSG00000163501,
  • IHH

Genome feature

Region: gene ? Length: 6498  
Location: 2:219054424-219060921 reverse strand Cyto location: 2q35


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results