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

Gene ID: 80776, updated on 1-Jun-2020

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
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

Genomic context

See B9D2 in Genome Data Viewer
Location:
19q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (41354417..41364534, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41860322..41870078, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372401 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 subunit alpha

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC4093

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
PubMed 
Process Evidence Code Pubs
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MKS 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
 

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)

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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    41354417..41364534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527350.2XP_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_011527349.2XP_011525651.1  B9 domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011525651.1

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