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Gene : HMX1 Homo sapiens

Name  ? H6 family homeobox 1 Cytological Location  4p16.1
Brief Description  H6 family homeobox 1
Description  This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]
  • synonyms:
  • HMX1,
  • M99587,
  • homeo box (H6 family) 1,
  • H6,
  • H6,
  • NM_018942,
  • NKX5-3,
  • HGNC:5017,
  • OTTHUMG00000160012,
  • NKX5-3,
  • uc003izz.2
  • identifiers:
  • 3166,
  • ENSG00000215612,
  • HMX1

Genome feature

Region: gene ? Length: 25764  
Location: 4:8846076-8871839 reverse strand Cyto location: 4p16.1


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Function

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0 Pathways

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

1 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

0 Pathways

89 SN Ps

4 Cross References

15 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results