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Gene : B9D1 Homo sapiens

Name  ? B9 domain containing 1 Cytological Location  17p11.2
Brief Description  B9 domain containing 1
Description  This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
  • synonyms:
  • uc002gvk.5,
  • BC002944,
  • B9 protein domain 1,
  • NM_015681,
  • EPPB9,
  • MKSR-1,
  • MKS9,
  • MKS9,
  • OTTHUMG00000059586,
  • JBTS27,
  • MKSR-1,
  • MKSR1,
  • EPPB9,
  • B9D1,
  • B9,
  • HGNC:24123,
  • endothelial precursor protein B9,
  • B9
  • identifiers:
  • 27077,
  • ENSG00000108641,
  • B9D1

Genome feature

Region: gene ? Length: 43219  
Location: 17:19334695-19377913 reverse strand Cyto location: 17p11.2

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Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



747 SNPs

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results