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Gene : IGHMBP2 Homo sapiens

Name  ? immunoglobulin mu DNA binding protein 2 Cytological Location  11q13.3
Brief Description  immunoglobulin mu DNA binding protein 2
Description  This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:5542,
  • L14754,
  • cardiac transcription factor 1,
  • ZFAND7,
  • CATF1,
  • IGHMBP2,
  • SMUBP2,
  • HMN6,
  • CMT2S,
  • HCSA,
  • OTTHUMG00000167894,
  • immunoglobulin mu binding protein 2,
  • SMARD1,
  • HMN6,
  • CATF1,
  • NM_002180,
  • uc001ook.2,
  • zinc finger, AN1-type domain 7,
  • CMT2S,
  • HCSA,
  • SMARD1,
  • ZFAND7,
  • SMUBP2
  • identifiers:
  • 3508,
  • ENSG00000132740,
  • IGHMBP2

Genome feature

Region: gene ? Length: 36747  
Location: 11:68903855-68940601 Cyto location: 11q13.3


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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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results