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Protein

B9 domain-containing protein 2

Gene

B9D2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-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

HGNCiHGNC:28636. B9D2.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cytosol Source: Reactome
  • membrane Source: Ensembl
  • nucleus Source: UniProtKB-SubCell
  • TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011S → 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
VAR_036626

Keywords - Diseasei

Ciliopathy, Disease mutation, Meckel syndrome

Organism-specific databases

MalaCardsiB9D2.
MIMi614175. phenotype.
Orphaneti564. Meckel syndrome.
PharmGKBiPA162377347.

Polymorphism and mutation databases

BioMutaiB9D2.
DMDMi221222440.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 175175B9 domain-containing protein 2PRO_0000307674Add
BLAST

Proteomic databases

MaxQBiQ9BPU9.
PaxDbiQ9BPU9.
PRIDEiQ9BPU9.

Expressioni

Gene expression databases

BgeeiQ9BPU9.
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

WithEntry#Exp.IntActNotes
INVSQ9Y2834EBI-6958971,EBI-751472
TTC30BQ8N4P22EBI-6958971,EBI-6958994

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123308. 61 interactions.
IntActiQ9BPU9. 61 interactions.
MINTiMINT-3060220.
STRINGi9606.ENSP00000243578.

Structurei

3D structure databases

ProteinModelPortaliQ9BPU9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2 – 118117B9PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the B9D family.Curated
Contains 1 B9 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4028. Eukaryota.
ENOG410ZQAW. LUCA.
GeneTreeiENSGT00530000063756.
HOGENOMiHOG000257718.
HOVERGENiHBG107102.
InParanoidiQ9BPU9.
KOiK16745.
OMAiQVWHQDS.
OrthoDBiEOG7TMZR6.
PhylomeDBiQ9BPU9.
TreeFamiTF314883.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111I → M.2 Publications
Corresponds to variant rs2241714 [ dbSNP | Ensembl ].
VAR_066996
Natural varianti101 – 1011S → 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
VAR_036626

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_011527349.1.
UniGeneiHs.567596.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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

3D structure databases

ProteinModelPortaliQ9BPU9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123308. 61 interactions.
IntActiQ9BPU9. 61 interactions.
MINTiMINT-3060220.
STRINGi9606.ENSP00000243578.

Polymorphism and mutation databases

BioMutaiB9D2.
DMDMi221222440.

Proteomic databases

MaxQBiQ9BPU9.
PaxDbiQ9BPU9.
PRIDEiQ9BPU9.

Protocols and materials databases

DNASUi80776.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80776.
GeneCardsiB9D2.
HGNCiHGNC:28636. B9D2.
HPAiHPA042229.
HPA042618.
MalaCardsiB9D2.
MIMi611951. gene.
614175. phenotype.
neXtProtiNX_Q9BPU9.
Orphaneti564. Meckel syndrome.
PharmGKBiPA162377347.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4028. Eukaryota.
ENOG410ZQAW. LUCA.
GeneTreeiENSGT00530000063756.
HOGENOMiHOG000257718.
HOVERGENiHBG107102.
InParanoidiQ9BPU9.
KOiK16745.
OMAiQVWHQDS.
OrthoDBiEOG7TMZR6.
PhylomeDBiQ9BPU9.
TreeFamiTF314883.

Enzyme and pathway databases

ReactomeiR-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.

Miscellaneous databases

GenomeRNAii80776.
NextBioi71175.
PROiQ9BPU9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BPU9.
CleanExiHS_B9D2.
ExpressionAtlasiQ9BPU9. baseline and differential.
GenevisibleiQ9BPU9. HS.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-11.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-11.
    Tissue: Lung.
  4. "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."
    Bialas N.J., Inglis P.N., Li C., Robinson J.F., Parker J.D., Healey M.P., Davis E.E., Inglis C.D., Toivonen T., Cottell D.C., Blacque O.E., Quarmby L.M., Katsanis N., Leroux M.R.
    J. Cell Sci. 122:611-624(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  5. Cited for: FUNCTION, VARIANT MKS10 ARG-101, CHARACTERIZATION OF VARIANT MKS10 ARG-101.

Entry informationi

Entry nameiB9D2_HUMAN
AccessioniPrimary (citable) accession number: Q9BPU9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: January 20, 2009
Last modified: March 16, 2016
This is version 101 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.