B9D2_HUMAN
ID B9D2_HUMAN Reviewed; 175 AA.
AC Q9BPU9;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-JAN-2009, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=B9 domain-containing protein 2;
DE AltName: Full=MKS1-related protein 2;
GN Name=B9D2; Synonyms=MKSR2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT MET-11.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT MET-11.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP SUBCELLULAR LOCATION.
RX PubMed=19208769; DOI=10.1242/jcs.028621;
RA Bialas N.J., Inglis P.N., Li C., Robinson J.F., Parker J.D., Healey M.P.,
RA Davis E.E., Inglis C.D., Toivonen T., Cottell D.C., Blacque O.E.,
RA Quarmby L.M., Katsanis N., Leroux M.R.;
RT "Functional interactions between the ciliopathy-associated Meckel syndrome
RT 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.";
RL J. Cell Sci. 122:611-624(2009).
RN [5]
RP FUNCTION, VARIANT MKS10 ARG-101, AND CHARACTERIZATION OF VARIANT MKS10
RP ARG-101.
RX PubMed=21763481; DOI=10.1016/j.ajhg.2011.06.003;
RA Dowdle W.E., Robinson J.F., Kneist A., Sirerol-Piquer M.S., Frints S.G.,
RA Corbit K.C., Zaghloul N.A., van Lijnschoten G., Mulders L., Verver D.E.,
RA Zerres K., Reed R.R., Attie-Bitach T., Johnson C.A., Garcia-Verdugo J.M.,
RA Katsanis N., Bergmann C., Reiter J.F.;
RT "Disruption of a ciliary B9 protein complex causes Meckel syndrome.";
RL Am. J. Hum. Genet. 89:94-110(2011).
RN [6]
RP ERRATUM OF PUBMED:21763481.
RA Dowdle W.E., Robinson J.F., Kneist A., Sirerol-Piquer M.S., Frints S.G.,
RA Corbit K.C., Zaghloul N.A., van Lijnschoten G., Mulders L., Verver D.E.,
RA Zerres K., Reed R.R., Attie-Bitach T., Johnson C.A., Garcia-Verdugo J.M.,
RA Katsanis N., Bergmann C., Reiter J.F.;
RL Am. J. Hum. Genet. 89:589-589(2011).
RN [7]
RP INVOLVEMENT IN JBTS34, AND VARIANTS JBTS34 PRO-36; SER-74 AND SER-155.
RX PubMed=26092869; DOI=10.1136/jmedgenet-2015-103087;
RG University of Washington Center for Mendelian Genomics;
RA Bachmann-Gagescu R., Dempsey J.C., Phelps I.G., O'Roak B.J., Knutzen D.M.,
RA Rue T.C., Ishak G.E., Isabella C.R., Gorden N., Adkins J., Boyle E.A.,
RA de Lacy N., O'Day D., Alswaid A., Radha Ramadevi A., Lingappa L.,
RA Lourenco C., Martorell L., Garcia-Cazorla A., Ozyuerek H., Haliloglu G.,
RA Tuysuz B., Topcu M., Chance P., Parisi M.A., Glass I.A., Shendure J.,
RA Doherty D.;
RT "Joubert syndrome: a model for untangling recessive disorders with extreme
RT genetic heterogeneity.";
RL J. Med. Genet. 52:514-522(2015).
CC -!- FUNCTION: Component of the tectonic-like complex, a complex localized
CC at the transition zone of primary cilia and acting as a barrier that
CC prevents diffusion of transmembrane proteins between the cilia and
CC plasma membranes. {ECO:0000269|PubMed:21763481}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC Interacts with TUBG1 (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BPU9; Q9BT30: ALKBH7; NbExp=3; IntAct=EBI-6958971, EBI-2878075;
CC Q9BPU9; Q9UPM9: B9D1; NbExp=5; IntAct=EBI-6958971, EBI-372535;
CC Q9BPU9; Q9Y283: INVS; NbExp=4; IntAct=EBI-6958971, EBI-751472;
CC Q9BPU9; Q9NXB0: MKS1; NbExp=8; IntAct=EBI-6958971, EBI-719269;
CC Q9BPU9; Q7Z4N8: P4HA3; NbExp=3; IntAct=EBI-6958971, EBI-10181968;
CC Q9BPU9; Q6IQ23-2: PLEKHA7; NbExp=3; IntAct=EBI-6958971, EBI-12069346;
CC Q9BPU9; Q7Z5V6-2: PPP1R32; NbExp=3; IntAct=EBI-6958971, EBI-12000762;
CC Q9BPU9; P47897: QARS1; NbExp=3; IntAct=EBI-6958971, EBI-347462;
CC Q9BPU9; Q99932-2: SPAG8; NbExp=3; IntAct=EBI-6958971, EBI-11959123;
CC Q9BPU9; O43711: TLX3; NbExp=3; IntAct=EBI-6958971, EBI-3939165;
CC Q9BPU9; Q8N4P2: TTC30B; NbExp=2; IntAct=EBI-6958971, EBI-6958994;
CC Q9BPU9; Q9BRG1: VPS25; NbExp=3; IntAct=EBI-6958971, EBI-741945;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:19208769}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:19208769}. Nucleus {ECO:0000250}.
CC -!- DISEASE: Meckel syndrome 10 (MKS10) [MIM:614175]: A disorder
CC characterized by a combination of renal cysts and variably associated
CC features including developmental anomalies of the central nervous
CC system (typically encephalocele), hepatic ductal dysplasia and cysts,
CC and polydactyly. {ECO:0000269|PubMed:21763481}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Joubert syndrome 34 (JBTS34) [MIM:614175]: A form of Joubert
CC syndrome, a disorder presenting with cerebellar ataxia, oculomotor
CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor
CC delay. Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy, renal disease,
CC liver fibrosis, and polydactyly. JBTS34 inheritance is autosomal
CC recessive. {ECO:0000269|PubMed:26092869}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the B9D family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC011462; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471126; EAW57034.1; -; Genomic_DNA.
DR EMBL; BC004157; AAH04157.1; -; mRNA.
DR EMBL; BC004444; AAH04444.1; -; mRNA.
DR CCDS; CCDS12579.1; -.
DR RefSeq; NP_085055.2; NM_030578.3.
DR RefSeq; XP_011525651.1; XM_011527349.2.
DR AlphaFoldDB; Q9BPU9; -.
DR BioGRID; 123308; 72.
DR IntAct; Q9BPU9; 71.
DR MINT; Q9BPU9; -.
DR STRING; 9606.ENSP00000243578; -.
DR BioMuta; B9D2; -.
DR DMDM; 221222440; -.
DR EPD; Q9BPU9; -.
DR MassIVE; Q9BPU9; -.
DR MaxQB; Q9BPU9; -.
DR PaxDb; Q9BPU9; -.
DR PeptideAtlas; Q9BPU9; -.
DR PRIDE; Q9BPU9; -.
DR ProteomicsDB; 78574; -.
DR Antibodypedia; 48740; 36 antibodies from 14 providers.
DR DNASU; 80776; -.
DR Ensembl; ENST00000243578.8; ENSP00000243578.2; ENSG00000123810.9.
DR Ensembl; ENST00000675972.1; ENSP00000501911.1; ENSG00000123810.9.
DR GeneID; 80776; -.
DR KEGG; hsa:80776; -.
DR MANE-Select; ENST00000243578.8; ENSP00000243578.2; NM_030578.4; NP_085055.2.
DR UCSC; uc002oqj.3; human.
DR CTD; 80776; -.
DR DisGeNET; 80776; -.
DR GeneCards; B9D2; -.
DR GeneReviews; B9D2; -.
DR HGNC; HGNC:28636; B9D2.
DR HPA; ENSG00000123810; Low tissue specificity.
DR MalaCards; B9D2; -.
DR MIM; 611951; gene.
DR MIM; 614175; phenotype.
DR neXtProt; NX_Q9BPU9; -.
DR OpenTargets; ENSG00000123810; -.
DR Orphanet; 564; Meckel syndrome.
DR PharmGKB; PA162377347; -.
DR VEuPathDB; HostDB:ENSG00000123810; -.
DR eggNOG; KOG4028; Eukaryota.
DR GeneTree; ENSGT00940000161428; -.
DR HOGENOM; CLU_084934_2_1_1; -.
DR InParanoid; Q9BPU9; -.
DR OMA; IMRHFDK; -.
DR OrthoDB; 367491at2759; -.
DR PhylomeDB; Q9BPU9; -.
DR TreeFam; TF314883; -.
DR PathwayCommons; Q9BPU9; -.
DR Reactome; R-HSA-141444; Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal.
DR Reactome; R-HSA-2467813; Separation of Sister Chromatids.
DR Reactome; R-HSA-2500257; Resolution of Sister Chromatid Cohesion.
DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR Reactome; R-HSA-5663220; RHO GTPases Activate Formins.
DR Reactome; R-HSA-68877; Mitotic Prometaphase.
DR Reactome; R-HSA-9648025; EML4 and NUDC in mitotic spindle formation.
DR SignaLink; Q9BPU9; -.
DR BioGRID-ORCS; 80776; 11 hits in 1085 CRISPR screens.
DR ChiTaRS; B9D2; human.
DR GenomeRNAi; 80776; -.
DR Pharos; Q9BPU9; Tbio.
DR PRO; PR:Q9BPU9; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BPU9; protein.
DR Bgee; ENSG00000123810; Expressed in right uterine tube and 95 other tissues.
DR ExpressionAtlas; Q9BPU9; baseline and differential.
DR Genevisible; Q9BPU9; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0016020; C:membrane; IEA:Ensembl.
DR GO; GO:0036038; C:MKS complex; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0043015; F:gamma-tubulin binding; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR InterPro; IPR010796; C2_B9-type_dom.
DR PANTHER; PTHR12968; PTHR12968; 1.
DR Pfam; PF07162; B9-C2; 1.
DR PROSITE; PS51381; C2_B9; 1.
PE 1: Evidence at protein level;
KW Cell projection; Ciliopathy; Cilium; Cilium biogenesis/degradation;
KW Cytoplasm; Cytoskeleton; Disease variant; Joubert syndrome;
KW Meckel syndrome; Nucleus; Reference proteome.
FT CHAIN 1..175
FT /note="B9 domain-containing protein 2"
FT /id="PRO_0000307674"
FT DOMAIN 2..118
FT /note="C2 B9-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00713"
FT VARIANT 11
FT /note="I -> M (in dbSNP:rs2241714)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_066996"
FT VARIANT 36
FT /note="L -> P (in JBTS34; unknown pathological
FT significance; dbSNP:rs757863670)"
FT /evidence="ECO:0000269|PubMed:26092869"
FT /id="VAR_080463"
FT VARIANT 74
FT /note="P -> S (in JBTS34; unknown pathological
FT significance; dbSNP:rs863225150)"
FT /evidence="ECO:0000269|PubMed:26092869"
FT /id="VAR_080464"
FT VARIANT 101
FT /note="S -> R (in MKS10; loss-of-function; could not rescue
FT in vitro dosage-dependent ciliary defects; fails to
FT interact with MKS1 although it retains its ability to
FT interact with B9D1; dbSNP:rs1487082103)"
FT /evidence="ECO:0000269|PubMed:21763481"
FT /id="VAR_036626"
FT VARIANT 155
FT /note="G -> S (in JBTS34; unknown pathological
FT significance; dbSNP:rs750436680)"
FT /evidence="ECO:0000269|PubMed:26092869"
FT /id="VAR_080465"
SQ SEQUENCE 175 AA; 19261 MW; A8B8D1A637C3EF5D CRC64;
MAEVHVIGQI IGASGFSESS LFCKWGIHTG AAWKLLSGVR EGQTQVDTPQ IGDMAYWSHP
IDLHFATKGL QGWPRLHFQV WSQDSFGRCQ LAGYGFCHVP SSPGTHQLAC PTWRPLGSWR
EQLARAFVGG GPQLLHGDTI YSGADRYRLH TAAGGTVHLE IGLLLRNFDR YGVEC
