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

Gene ID: 80776, updated on 1-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
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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)

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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.

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