B9D2

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

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

ciliary basal body-plasma membrane docking Source: Reactome
cilium assembly Source: UniProtKB

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cilium biogenesis/degradation

Biological process

Cilium biogenesis/degradation

Enzyme and pathway databases

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

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

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: B9 domain-containing protein 2 Alternative name(s): MKS1-related protein 2
Gene namesⁱ	Name:B9D2 Synonyms:MKSR2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000123810.7
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28636 B9D2
MIMⁱ	611951 gene
neXtProtⁱ	NX_Q9BPU9

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.

Feature 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 Publication		1

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.

Feature key	Position(s)	DescriptionActions	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 Publication	1

Keywords - Diseaseⁱ

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNET More...DisGeNETⁱ	80776
MalaCards human disease database More...MalaCardsⁱ	B9D2
MIMⁱ	614175 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000123810
Orphanetⁱ	564 Meckel syndrome
PharmGKBⁱ	PA162377347

Polymorphism and mutation 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
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BPU9
PaxDbⁱ	Q9BPU9
PeptideAtlas More...PeptideAtlasⁱ	Q9BPU9
PRIDEⁱ	Q9BPU9
ProteomicsDBⁱ	78574

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000123810 Expressed in 91 organ(s), highest expression level in blood
CleanExⁱ	HS_B9D2
ExpressionAtlasⁱ	Q9BPU9 baseline and differential
Genevisibleⁱ	Q9BPU9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA042229 HPA042618

HPAⁱ

HPA042229
HPA042618

Interactionⁱ

Subunit structureⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
INVS	Q9Y283	4	EBI-6958971,EBI-751472
TTC30B	Q8N4P2	2	EBI-6958971,EBI-6958994

GO - Molecular functionⁱ

gamma-tubulin binding Source: UniProtKB

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	123308, 63 interactors
IntActⁱ	Q9BPU9, 70 interactors
Molecular INTeraction database More...MINTⁱ	Q9BPU9
STRINGⁱ	9606.ENSP00000243578

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9BPU9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	2 – 118	B9PROSITE-ProRule annotationAdd BLAST		117

Sequence similaritiesⁱ

Belongs to the B9D family.Curated

Phylogenomic databases

eggNOGⁱ	KOG4028 Eukaryota ENOG410ZQAW LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063756
HOGENOMⁱ	HOG000257718
HOVERGENⁱ	HBG107102
InParanoidⁱ	Q9BPU9
KEGG Orthology (KO) More...KOⁱ	K16745
OMAⁱ	QVWHQDS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0BGX
PhylomeDBⁱ	Q9BPU9
TreeFamⁱ	TF314883

Family and domain databases

InterProⁱ	View protein in InterPro IPR010796 B9_dom
PANTHERⁱ	PTHR12968 PTHR12968, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07162 B9-C2, 1 hit
PROSITEⁱ	View 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]FASTA Add 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.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation
	M0QY88	M0QY88_HUMAN		B9 domain-containing protein 2 B9 domain-containing protein 2	B9D2	82	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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 Publication	1
Natural variantⁱVAR_080465	155	G → S in JBTS34; unknown pathological significance. 1 Publication	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12579.1
NCBI Reference Sequences More...RefSeqⁱ	NP_085055.2, NM_030578.3 XP_011525651.1, XM_011527349.2
UniGeneⁱ	Hs.567596

Genome annotation databases

Ensemblⁱ	ENST00000243578; ENSP00000243578; ENSG00000123810
GeneIDⁱ	80776
KEGGⁱ	hsa:80776
UCSC genome browser More...UCSCⁱ	uc002oqj.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BPU9	B9 domain-containing protein 2		BOVIN		175	UniRef90_Q9BPU9
B9 domain-containing protein 2		MOUSE		175
B9 domain-containing protein 2		RAT		175
Putative b9 domain-containing protein 2 (Fragment)		DESRO		178
B9 domain containing 2		MUSPF		175
+81

Protein	Similar proteins		Species	Score	Length	Source
Q9BPU9	B9 domain-containing protein 2		RAT		175	UniRef50_Q9BPU9
B9 domain-containing protein 2		MOUSE		175
B9 domain-containing protein 2		BOVIN		175
B9 domain-containing protein 2		XENLA		176
Putative b9 domain-containing protein 2 (Fragment)		DESRO		178
+183

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:	September 12, 2018
	This is version 120 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

Complete proteome, Reference proteome

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9BPU9 (B9D2_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

B9 domain-containing protein 2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Cytoskeleton

Cytoskeleton

Cytosol

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ