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Gene : HMX2 Homo sapiens

Name  ? H6 family homeobox 2 Cytological Location  10q26.13
Brief Description  H6 family homeobox 2
Description  The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]
  • synonyms:
  • Nkx5-2,
  • uc001lhc.1,
  • H6L,
  • HMX2,
  • HGNC:5018,
  • OTTHUMG00000019198,
  • homeo box (H6 family) 2,
  • NM_005519,
  • NKX5-2
  • identifiers:
  • 3167,
  • ENSG00000188816,
  • HMX2

Genome feature

Region: gene ? Length: 8253  
Location: 10:123142421-123150673 Cyto location: 10q26.13


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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

0 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

2 SN Ps

4 Cross References

14 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results