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

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: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (41354417..41364149, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (44175285..44184729, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41860322..41870054, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

New functions of B9D2 in tight junctions and epithelial polarity.
Title: New functions of B9D2 in tight junctions and epithelial polarity.
Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
Title: Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
Observational study of gene-disease association. (HuGE Navigator)
Title: Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994.
MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1/EPPB9, MKSR-2/B9D2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
Title: Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
The ICIS-1 (Involved in CIlia Stability-1)gene is localized within the TGF-beta1 promoter and is upregulated during mucociliary differentiation.
Title: Identification of ICIS-1, a new protein involved in cilia stability.
ICIS-1 is a new protein associated with ciliated cells and potentially related to cilia stability. This gene is localized within the TGF-beta1 promoter and is ubiquitously expressed in human tissues.
Title: Identification of ICIS-1, a new protein involved in cilia stability.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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

NG_013091.1 RefSeqGene

Range

5025..14757

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030578.4 → NP_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:10 → 163

B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

41354417..41364149 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam07162
Location:1 → 110

B9-C2; Ciliary basal body-associated, B9 protein
XM_011527349.3 → XP_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:10 → 163

B9-C2; Ciliary basal body-associated, B9 protein