UniProtKB - Q9BPU9 (B9D2_HUMAN)
Protein
B9 domain-containing protein 2
Gene
B9D2
Organism
Homo sapiens (Human)
Status
Functioni
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.1 Publication
GO - Molecular functioni
- gamma-tubulin binding Source: UniProtKB
GO - Biological processi
- ciliary basal body-plasma membrane docking Source: Reactome
- cilium assembly Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q9BPU9 |
Reactomei | R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-2467813, Separation of Sister Chromatids R-HSA-2500257, Resolution of Sister Chromatid Cohesion R-HSA-5620912, Anchoring of the basal body to the plasma membrane R-HSA-5663220, RHO GTPases Activate Formins R-HSA-68877, Mitotic Prometaphase R-HSA-9648025, EML4 and NUDC in mitotic spindle formation |
Names & Taxonomyi
Protein namesi | Recommended name: B9 domain-containing protein 2Alternative name(s): MKS1-related protein 2 |
Gene namesi | Name:B9D2 Synonyms:MKSR2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28636, B9D2 |
MIMi | 611951, gene |
neXtProti | NX_Q9BPU9 |
VEuPathDBi | HostDB:ENSG00000123810.7 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Cytoskeleton
- cilium basal body 1 Publication
- cilium axoneme 1 Publication
Cytoskeleton
- centrosome Source: UniProtKB
- ciliary basal body Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- membrane Source: Ensembl
- MKS complex Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, Cytoskeleton, NucleusPathology & Biotechi
Involvement in diseasei
Meckel syndrome 10 (MKS10)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036626 | 101 | S → R in MKS10; loss-of-function; could not rescue in vitro dosage-dependent ciliary defects; fails to interact with MKS1 although it retains its ability to interact with B9D1. 1 PublicationCorresponds to variant dbSNP:rs1487082103EnsemblClinVar. | 1 |
Joubert syndrome 34 (JBTS34)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS34 inheritance is autosomal recessive.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080463 | 36 | L → P in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757863670EnsemblClinVar. | 1 | |
Natural variantiVAR_080464 | 74 | P → S in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225150EnsemblClinVar. | 1 | |
Natural variantiVAR_080465 | 155 | G → S in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750436680EnsemblClinVar. | 1 |
Keywords - Diseasei
Ciliopathy, Disease variant, Joubert syndrome, Meckel syndromeOrganism-specific databases
DisGeNETi | 80776 |
GeneReviewsi | B9D2 |
MalaCardsi | B9D2 |
MIMi | 614175, phenotype |
OpenTargetsi | ENSG00000123810 |
Orphaneti | 564, Meckel syndrome |
PharmGKBi | PA162377347 |
Miscellaneous databases
Pharosi | Q9BPU9, Tdark |
Genetic variation databases
BioMutai | B9D2 |
DMDMi | 221222440 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307674 | 1 – 175 | B9 domain-containing protein 2Add BLAST | 175 |
Proteomic databases
EPDi | Q9BPU9 |
MassIVEi | Q9BPU9 |
MaxQBi | Q9BPU9 |
PaxDbi | Q9BPU9 |
PeptideAtlasi | Q9BPU9 |
PRIDEi | Q9BPU9 |
ProteomicsDBi | 78574 |
Expressioni
Gene expression databases
Bgeei | ENSG00000123810, Expressed in muscle tissue and 116 other tissues |
ExpressionAtlasi | Q9BPU9, baseline and differential |
Genevisiblei | Q9BPU9, HS |
Organism-specific databases
HPAi | ENSG00000123810, Tissue enhanced (blood) |
Interactioni
Subunit structurei
Part of the tectonic-like complex (also named B9 complex).
Interacts with TUBG1 (By similarity).
By similarityBinary interactionsi
Hide detailsQ9BPU9
GO - Molecular functioni
- gamma-tubulin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123308, 71 interactors |
IntActi | Q9BPU9, 71 interactors |
MINTi | Q9BPU9 |
STRINGi | 9606.ENSP00000243578 |
Miscellaneous databases
RNActi | Q9BPU9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 2 – 118 | C2 B9-typePROSITE-ProRule annotationAdd BLAST | 117 |
Sequence similaritiesi
Belongs to the B9D family.Curated
Phylogenomic databases
eggNOGi | KOG4028, Eukaryota |
GeneTreei | ENSGT00940000161428 |
HOGENOMi | CLU_084934_2_1_1 |
InParanoidi | Q9BPU9 |
OMAi | CVTWRPL |
OrthoDBi | 367491at2759 |
PhylomeDBi | Q9BPU9 |
TreeFami | TF314883 |
Family and domain databases
InterProi | View protein in InterPro IPR010796, B9_dom |
PANTHERi | PTHR12968, PTHR12968, 1 hit |
Pfami | View protein in Pfam PF07162, B9-C2, 1 hit |
PROSITEi | View protein in PROSITE PS51381, C2_B9, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9BPU9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAEVHVIGQI IGASGFSESS LFCKWGIHTG AAWKLLSGVR EGQTQVDTPQ
60 70 80 90 100
IGDMAYWSHP IDLHFATKGL QGWPRLHFQV WSQDSFGRCQ LAGYGFCHVP
110 120 130 140 150
SSPGTHQLAC PTWRPLGSWR EQLARAFVGG GPQLLHGDTI YSGADRYRLH
160 170
TAAGGTVHLE IGLLLRNFDR YGVEC
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketM0QY88 | M0QY88_HUMAN | B9 domain-containing protein 2 | B9D2 | 82 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066996 | 11 | I → M2 PublicationsCorresponds to variant dbSNP:rs2241714EnsemblClinVar. | 1 | |
Natural variantiVAR_080463 | 36 | L → P in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757863670EnsemblClinVar. | 1 | |
Natural variantiVAR_080464 | 74 | P → S in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225150EnsemblClinVar. | 1 | |
Natural variantiVAR_036626 | 101 | S → R in MKS10; loss-of-function; could not rescue in vitro dosage-dependent ciliary defects; fails to interact with MKS1 although it retains its ability to interact with B9D1. 1 PublicationCorresponds to variant dbSNP:rs1487082103EnsemblClinVar. | 1 | |
Natural variantiVAR_080465 | 155 | G → S in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750436680EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC011462 Genomic DNA No translation available. CH471126 Genomic DNA Translation: EAW57034.1 BC004157 mRNA Translation: AAH04157.1 BC004444 mRNA Translation: AAH04444.1 |
CCDSi | CCDS12579.1 |
RefSeqi | NP_085055.2, NM_030578.3 XP_011525651.1, XM_011527349.2 |
Genome annotation databases
Ensembli | ENST00000243578; ENSP00000243578; ENSG00000123810 ENST00000675972; ENSP00000501911; ENSG00000123810 |
GeneIDi | 80776 |
KEGGi | hsa:80776 |
UCSCi | uc002oqj.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC011462 Genomic DNA No translation available. CH471126 Genomic DNA Translation: EAW57034.1 BC004157 mRNA Translation: AAH04157.1 BC004444 mRNA Translation: AAH04444.1 |
CCDSi | CCDS12579.1 |
RefSeqi | NP_085055.2, NM_030578.3 XP_011525651.1, XM_011527349.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123308, 71 interactors |
IntActi | Q9BPU9, 71 interactors |
MINTi | Q9BPU9 |
STRINGi | 9606.ENSP00000243578 |
Genetic variation databases
BioMutai | B9D2 |
DMDMi | 221222440 |
Proteomic databases
EPDi | Q9BPU9 |
MassIVEi | Q9BPU9 |
MaxQBi | Q9BPU9 |
PaxDbi | Q9BPU9 |
PeptideAtlasi | Q9BPU9 |
PRIDEi | Q9BPU9 |
ProteomicsDBi | 78574 |
Protocols and materials databases
Antibodypediai | 48740, 34 antibodies |
DNASUi | 80776 |
Genome annotation databases
Ensembli | ENST00000243578; ENSP00000243578; ENSG00000123810 ENST00000675972; ENSP00000501911; ENSG00000123810 |
GeneIDi | 80776 |
KEGGi | hsa:80776 |
UCSCi | uc002oqj.3, human |
Organism-specific databases
CTDi | 80776 |
DisGeNETi | 80776 |
GeneCardsi | B9D2 |
GeneReviewsi | B9D2 |
HGNCi | HGNC:28636, B9D2 |
HPAi | ENSG00000123810, Tissue enhanced (blood) |
MalaCardsi | B9D2 |
MIMi | 611951, gene 614175, phenotype |
neXtProti | NX_Q9BPU9 |
OpenTargetsi | ENSG00000123810 |
Orphaneti | 564, Meckel syndrome |
PharmGKBi | PA162377347 |
VEuPathDBi | HostDB:ENSG00000123810.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4028, Eukaryota |
GeneTreei | ENSGT00940000161428 |
HOGENOMi | CLU_084934_2_1_1 |
InParanoidi | Q9BPU9 |
OMAi | CVTWRPL |
OrthoDBi | 367491at2759 |
PhylomeDBi | Q9BPU9 |
TreeFami | TF314883 |
Enzyme and pathway databases
PathwayCommonsi | Q9BPU9 |
Reactomei | R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-2467813, Separation of Sister Chromatids R-HSA-2500257, Resolution of Sister Chromatid Cohesion R-HSA-5620912, Anchoring of the basal body to the plasma membrane R-HSA-5663220, RHO GTPases Activate Formins R-HSA-68877, Mitotic Prometaphase R-HSA-9648025, EML4 and NUDC in mitotic spindle formation |
Miscellaneous databases
BioGRID-ORCSi | 80776, 4 hits in 880 CRISPR screens |
ChiTaRSi | B9D2, human |
GenomeRNAii | 80776 |
Pharosi | Q9BPU9, Tdark |
PROi | PR:Q9BPU9 |
RNActi | Q9BPU9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123810, Expressed in muscle tissue and 116 other tissues |
ExpressionAtlasi | Q9BPU9, baseline and differential |
Genevisiblei | Q9BPU9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR010796, B9_dom |
PANTHERi | PTHR12968, PTHR12968, 1 hit |
Pfami | View protein in Pfam PF07162, B9-C2, 1 hit |
PROSITEi | View protein in PROSITE PS51381, C2_B9, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | B9D2_HUMAN | |
Accessioni | Q9BPU9Primary (citable) accession number: Q9BPU9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | January 20, 2009 | |
Last modified: | February 10, 2021 | |
This is version 134 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants