help  | about  | cite  | software

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:
  • OTTHUMG00000059586,
  • MKSR-1,
  • MKSR1,
  • B9D1,
  • BC002944,
  • B9,
  • HGNC:24123,
  • endothelial precursor protein B9,
  • NM_015681,
  • MKS9,
  • MKS9,
  • MKSR-1,
  • EPPB9,
  • EPPB9,
  • uc002gvk.5,
  • JBTS27,
  • B9 protein domain 1,
  • B9
  • identifiers:
  • 27077,
  • ENSG00000108641,
  • B9D1

Genome feature

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


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

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

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

747 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results