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B9d2 B9 domain containing 2 [ Rattus norvegicus (Norway rat) ]

Gene ID: 308443, updated on 2-Nov-2024

Summary

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Official Symbol
B9d2provided by RGD
Official Full Name
B9 domain containing 2provided by RGD
Primary source
RGD:1566122
See related
EnsemblRapid:ENSRNOG00000028753 AllianceGenome:RGD:1566122
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
RGD1566122
Summary
Predicted to enable gamma-tubulin binding activity. Predicted to be involved in cilium assembly. Predicted to be located in ciliary transition zone; membrane; and microtubule organizing center. Predicted to be part of MKS complex. Human ortholog(s) of this gene implicated in Joubert syndrome. Orthologous to human B9D2 (B9 domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in Brain (RPKM 40.4), Thymus (RPKM 32.5) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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See B9d2 in Genome Data Viewer
Location:
1q21
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (90315472..90323143)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (81189395..81195383)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (82473254..82479704)

Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene branched chain keto acid dehydrogenase E1 subunit alpha Neighboring gene exosome component 5 Neighboring gene transmembrane protein 91 Neighboring gene uncharacterized LOC134482996 Neighboring gene transforming growth factor, beta 1 Neighboring gene coiled-coil domain containing 97

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. New functions of B9D2 in tight junctions and epithelial polarity. Caenen-Braz C, et al. Sci Rep, 2024 Oct 25. PMID 39455645, Free PMC Article
  2. The stumpy gene is required for mammalian ciliogenesis. Town T, et al. Proc Natl Acad Sci U S A, 2008 Feb 26. PMID 18287022, Free PMC Article
  3. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. Bialas NJ, et al. J Cell Sci, 2009 Mar 1. PMID 19208769, Free PMC Article
  4. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. Williams CL, et al. J Cell Biol, 2011 Mar 21. PMID 21422230, Free PMC Article
  5. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Dowdle WE, et al. Am J Hum Genet, 2011 Jul 15. PMID 21763481, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. New functions of B9D2 in tight junctions and epithelial polarity.
    Title: New functions of B9D2 in tight junctions and epithelial polarity.
Submit: New GeneRIF Correction

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables gamma-tubulin binding ISO
Inferred from Sequence Orthology
more info
  
enables gamma-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in 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 ISO
Inferred from Sequence Orthology
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of MKS complex ISO
Inferred from Sequence Orthology
more info
  
part_of MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in ciliary transition zone ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
B9 domain-containing protein 2
Names
B9 protein domain 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_001107494.1 → NP_001100964.1  B9 domain-containing protein 2

    See identical proteins and their annotated locations for NP_001100964.1

    Status: PROVISIONAL

    Source sequence(s)
    CH473979
    UniProtKB/Swiss-Prot
    P0C5J3
    UniProtKB/TrEMBL
    A6J984
    Conserved Domains (1) summary
    pfam07162
    Location:4 → 159
    B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086019.1 Reference GRCr8

    Range
    90315472..90323143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006228438.5 → XP_006228500.1  B9 domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006228500.1

    UniProtKB/Swiss-Prot
    P0C5J3
    UniProtKB/TrEMBL
    A6J984
    Related
    ENSRNOP00000028029.5, ENSRNOT00000028029.8
    Conserved Domains (1) summary
    pfam07162
    Location:4 → 159
    B9-C2; Ciliary basal body-associated, B9 protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0C5J3.1 GenPept UniProtKB/Swiss-Prot:P0C5J3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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