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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

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.

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

Keywords - Diseasei

Ciliopathy, Disease mutation, 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.

Expressioni

Gene expression databases

BgeeiENSG00000123810.
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

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123308. 63 interactors.
IntActiQ9BPU9. 64 interactors.
MINTiMINT-3060220.
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.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06699611I → M2 PublicationsCorresponds to variant dbSNP:rs2241714Ensembl.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

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 27, 2017
This is version 112 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

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