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    B9D2 B9 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 80776, updated on 5-Mar-2024

    Summary

    Official Symbol
    B9D2provided by HGNC
    Official Full Name
    B9 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28636
    See related
    Ensembl:ENSG00000123810 MIM:611951; AllianceGenome:HGNC:28636
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MKS10; MKSR2; ICIS-1; JBTS34; MKSR-2
    Summary
    This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 2.6), testis (RPKM 2.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See B9D2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41354417..41364149, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44175285..44184729, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41860322..41870054, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14674 Neighboring gene coiled-coil domain containing 97 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41825837-41826574 Neighboring gene Sharpr-MPRA regulatory regions 2264 and 10656 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41828472-41828958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41829057-41829826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41830597-41831366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41831367-41832136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41833547-41834068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14676 Neighboring gene transforming growth factor beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41860203-41860704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14679 Neighboring gene transmembrane protein 91 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10665 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41885758-41885931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41889835-41890334 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41892254-41892432 Neighboring gene exosome component 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:41903234-41903906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:41903907-41904578 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41912476-41913430 Neighboring gene branched chain keto acid dehydrogenase E1 subunit alpha Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41913431-41914386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14681

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Meckel syndrome, type 10
    MedGen: C3280036 OMIM: 614175 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC4093

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    B9 domain-containing protein 2
    Names
    B9 protein domain 2
    MKS1-related protein 2
    involved in cIlia stability-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_013091.1 RefSeqGene

      Range
      5025..14757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_030578.4NP_085055.2  B9 domain-containing protein 2

      See identical proteins and their annotated locations for NP_085055.2

      Status: REVIEWED

      Source sequence(s)
      BC004157, BM833644, BU609059, DA196504
      Consensus CDS
      CCDS12579.1
      UniProtKB/Swiss-Prot
      Q9BPU9
      Related
      ENSP00000243578.2, ENST00000243578.8
      Conserved Domains (1) summary
      pfam07162
      Location:10163
      B9-C2; Ciliary basal body-associated, B9 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41354417..41364149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527350.3XP_011525652.1  B9 domain-containing protein 2 isoform X2

      Conserved Domains (1) summary
      pfam07162
      Location:1110
      B9-C2; Ciliary basal body-associated, B9 protein
    2. XM_011527349.3XP_011525651.1  B9 domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011525651.1

      UniProtKB/Swiss-Prot
      Q9BPU9
      Related
      ENSP00000501911.1, ENST00000675972.1
      Conserved Domains (1) summary
      pfam07162
      Location:10163
      B9-C2; Ciliary basal body-associated, B9 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44175285..44184729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322242.1XP_054178217.1  B9 domain-containing protein 2 isoform X2

    2. XM_054322241.1XP_054178216.1  B9 domain-containing protein 2 isoform X1