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

Gene ID: 80776, updated on 8-Apr-2014
Official Symbol
B9D2provided by HGNC
Official Full Name
B9 protein domain 2provided by HGNC
Primary source
HGNC:28636
See related
Ensembl:ENSG00000123810; HPRD:14613; MIM:611951; Vega:OTTHUMG00000182758
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
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]
Location :
19q13.2
Sequence :
Chromosome: 19; NC_000019.10 (41354417..41364540, complement)
See B9D2 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 97 Neighboring gene transforming growth factor, beta 1 Neighboring gene transmembrane protein 91 Neighboring gene exosome component 5 Neighboring gene branched chain keto acid dehydrogenase E1, alpha polypeptide

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
Products Interactant Other Gene Complex Source Pubs Description

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
TCTN-B9D complex ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
B9 domain-containing protein 2
Names
B9 domain-containing protein 2
MKS1-related protein 2
involved in cIlia stability-1

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
    5001..14757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030578.3NP_085055.2  B9 domain-containing protein 2

    See proteins identical to NP_085055.2

    Status: REVIEWED

    Source sequence(s)
    BC004157, BM833644, BU609059, DA196504
    Consensus CDS
    CCDS12579.1
    UniProtKB/Swiss-Prot
    Q9BPU9
    Related
    ENSP00000243578, OTTHUMP00000270082, ENST00000243578, OTTHUMT00000463489
    Conserved Domains (1) summary
    pfam07162
    Location:3165
    Blast Score: 597
    B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10

    Range
    41354417..41364540, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723405.1XP_006723468.1  

    Conserved Domains (1) summary
    pfam07162
    Location:3123
    Blast Score: 395
    B9-C2; Ciliary basal body-associated, B9 protein

Alternate HuRef

Genomic

  1. AC_000151.1 Alternate HuRef

    Range
    38292411..38301879, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    41859986..41869742, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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