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Protein

B9 domain-containing protein 2

Gene

B9D2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-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

Names & Taxonomyi

Protein namesi
Recommended name:
B9 domain-containing protein 2
Alternative name(s):
MKS1-related protein 2
Gene namesi
Name:B9D2
Synonyms:MKSR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000123810.7
HGNCiHGNC:28636 B9D2
MIMi611951 gene
neXtProtiNX_Q9BPU9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Meckel syndrome 10 (MKS10)1 Publication
The disease is caused by mutations 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.
See also OMIM:614175
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036626101S → 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 Publication1
Joubert syndrome 34 (JBTS34)1 Publication
The disease is caused by mutations 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.
See also OMIM:614175
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08046336L → P in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757863670EnsemblClinVar.1
Natural variantiVAR_08046474P → S in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225150EnsemblClinVar.1
Natural variantiVAR_080465155G → S in JBTS34; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNETi80776
MalaCardsiB9D2
MIMi614175 phenotype
OpenTargetsiENSG00000123810
Orphaneti564 Meckel syndrome
PharmGKBiPA162377347

Polymorphism and mutation databases

BioMutaiB9D2
DMDMi221222440

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003076741 – 175B9 domain-containing protein 2Add BLAST175

Proteomic databases

EPDiQ9BPU9
MaxQBiQ9BPU9
PaxDbiQ9BPU9
PeptideAtlasiQ9BPU9
PRIDEiQ9BPU9
ProteomicsDBi78574

Expressioni

Gene expression databases

BgeeiENSG00000123810 Expressed in 91 organ(s), highest expression level in blood
CleanExiHS_B9D2
ExpressionAtlasiQ9BPU9 baseline and differential
GenevisibleiQ9BPU9 HS

Organism-specific databases

HPAiHPA042229
HPA042618

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex). Interacts with TUBG1 (By similarity).By similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123308, 63 interactors
IntActiQ9BPU9, 70 interactors
MINTiQ9BPU9
STRINGi9606.ENSP00000243578

Structurei

3D structure databases

ProteinModelPortaliQ9BPU9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 118B9PROSITE-ProRule annotationAdd BLAST117

Sequence similaritiesi

Belongs to the B9D family.Curated

Phylogenomic databases

eggNOGiKOG4028 Eukaryota
ENOG410ZQAW LUCA
GeneTreeiENSGT00530000063756
HOGENOMiHOG000257718
HOVERGENiHBG107102
InParanoidiQ9BPU9
KOiK16745
OMAiQVWHQDS
OrthoDBiEOG091G0BGX
PhylomeDBiQ9BPU9
TreeFamiTF314883

Family and domain databases

InterProiView protein in InterPro
IPR010796 B9_dom
PANTHERiPTHR12968 PTHR12968, 1 hit
PfamiView protein in Pfam
PF07162 B9-C2, 1 hit
PROSITEiView protein in PROSITE
PS51381 B9, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

Q9BPU9-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:175
Mass (Da):19,261
Last modified:January 20, 2009 - v2
Checksum:iA8B8D1A637C3EF5D
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QY88M0QY88_HUMAN
B9 domain-containing protein 2
B9D2
82Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06699611I → M2 PublicationsCorresponds to variant dbSNP:rs2241714EnsemblClinVar.1
Natural variantiVAR_08046336L → P in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757863670EnsemblClinVar.1
Natural variantiVAR_08046474P → S in JBTS34; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863225150EnsemblClinVar.1
Natural variantiVAR_036626101S → 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 Publication1
Natural variantiVAR_080465155G → S in JBTS34; unknown pathological significance. 1 Publication1

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
CCDSiCCDS12579.1
RefSeqiNP_085055.2, NM_030578.3
XP_011525651.1, XM_011527349.2
UniGeneiHs.567596

Genome annotation databases

EnsembliENST00000243578; ENSP00000243578; ENSG00000123810
GeneIDi80776
KEGGihsa:80776
UCSCiuc002oqj.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiB9D2_HUMAN
AccessioniPrimary (citable) accession number: Q9BPU9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: January 20, 2009
Last modified: September 12, 2018
This is version 120 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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