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Gene : C19orf12 Homo sapiens

Name  ? chromosome 19 open reading frame 12 Cytological Location  19q12
Brief Description  chromosome 19 open reading frame 12
Description  This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
  • synonyms:
  • MPAN,
  • uc031rkd.1,
  • SPG43,
  • neurodegeneration with brain iron accumulation 4,
  • SPG43,
  • spastic paraplegia 43 (autosomal recessive),
  • NBIA4,
  • NBIA3,
  • MPAN,
  • NBIA4,
  • HGNC:25443,
  • C19orf12,
  • MGC10922,
  • DKFZP762D096,
  • membrane protein-associated neurodegeneration,
  • NM_031448,
  • AK057185,
  • OTTHUMG00000149838
  • identifiers:
  • 83636,
  • ENSG00000131943,
  • C19orf12

Genome feature

Region: gene ? Length: 16904  
Location: 19:29698886-29715789 reverse strand Cyto location: 19q12


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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

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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

281 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results