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B9d2 B9 protein domain 2 [ Mus musculus (house mouse) ]

Gene ID: 232987, updated on 30-Apr-2024

Summary

Official Symbol
B9d2provided by MGI
Official Full Name
B9 protein domain 2provided by MGI
Primary source
MGI:MGI:2387643
See related
Ensembl:ENSMUSG00000063439 AllianceGenome:MGI:2387643
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
stumpy
Summary
Enables gamma-tubulin binding activity. Involved in cilium assembly. Located in membrane. Part of MKS complex. Orthologous to human B9D2 (B9 domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 18.5), ovary adult (RPKM 15.3) and 28 other tissues See more
Orthologs
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Genomic context

See B9d2 in Genome Data Viewer
Location:
7 A3; 7 13.97 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (25380205..25385987)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (25680780..25686562)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E696 Neighboring gene exosome component 5 Neighboring gene transmembrane protein 91 Neighboring gene STARR-positive B cell enhancer ABC_E9022 Neighboring gene STARR-positive B cell enhancer ABC_E6524 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:26466931-26467040 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:26468633-26468786 Neighboring gene transforming growth factor, beta 1 Neighboring gene coiled-coil domain containing 97 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:26503991-26504174

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

Clone Names

  • MGC41256

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables gamma-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of MKS complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
B9 domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001362154.1NP_001349083.1  B9 domain-containing protein 2

    Status: VALIDATED

    Source sequence(s)
    AK141500, BX517802
    Consensus CDS
    CCDS20992.1
    UniProtKB/Swiss-Prot
    Q3UK10, Q8R045
    Related
    ENSMUSP00000146289.2, ENSMUST00000205658.2
    Conserved Domains (1) summary
    pfam07162
    Location:10159
    B9-C2; Ciliary basal body-associated, B9 protein
  2. NM_172148.2NP_742160.1  B9 domain-containing protein 2

    See identical proteins and their annotated locations for NP_742160.1

    Status: VALIDATED

    Source sequence(s)
    BC028440, BX517802
    Consensus CDS
    CCDS20992.1
    UniProtKB/Swiss-Prot
    Q3UK10, Q8R045
    Related
    ENSMUSP00000104040.4, ENSMUST00000108403.4
    Conserved Domains (1) summary
    pfam07162
    Location:10159
    B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    25380205..25385987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)