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Gene : GET1 Homo sapiens

Name  ? guided entry of tail-anchored proteins factor 1 Cytological Location  21q22.2
Brief Description  guided entry of tail-anchored proteins factor 1
description  This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]
  • synonyms:
  • NM_001146218,
  • WRB,
  • GET1,
  • OTTHUMG00000066250,
  • tryptophan rich basic protein,
  • WRB,
  • uc002yxs.4,
  • HGNC:12790,
  • CHD5,
  • CHD5
  • identifiers:
  • 7485,
  • ENSG00000182093,
  • GET1

Genome feature

Region: gene ? Length: 48285  
Location: 21:39380244-39428528 Cyto location: 21q22.2


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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

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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

15 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results