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Gene : EPB42 Homo sapiens

Name  ? erythrocyte membrane protein band 4.2 Cytological Location  15q15.2
Brief Description  erythrocyte membrane protein band 4.2
Description  Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • PA,
  • MGC116735,
  • HGNC:3381,
  • uc001zra.5,
  • MGC116737,
  • SPH5,
  • OTTHUMG00000130701,
  • NM_000119,
  • M60298,
  • Erythrocyte surface protein band 4.2,
  • EPB42,
  • PA
  • identifiers:
  • 2038,
  • ENSG00000166947,
  • EPB42

Genome feature

Region: gene ? Length: 28630  
Location: 15:43197227-43225856 reverse strand Cyto location: 15q15.2


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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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

1 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results