B9D2
entrez
80776
canonical
uniprot
Q9BPU9
canonical
ensembl
ENSG00000123810
resolver
ensp
ENSP00000243578
resolver
ensp
ENSP00000501911
resolver
ensp
ENSP00000560410
resolver
ensp
ENSP00000602393
resolver
enst
ENST00000243578
resolver
enst
ENST00000675972
resolver
enst
ENST00000890351
resolver
enst
ENST00000932334
resolver
genesymbol
B9D2
resolver
genesymbol_syn
MKSR2
resolver
hgnc
HGNC:28636
resolver
uniprot_entry
B9D2_HUMAN
resolver
amino_acid_sequence
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC
uniprot
proteins
disease_involvement
DISEASE: Meckel syndrome 10 (MKS10) [MIM:614175]: A 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. {ECO:0000269|PubMed:21763481, ECO:0000269|PubMed:31411728}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 34 (JBTS34) [MIM:614175]: A 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. {ECO:0000269|PubMed:26092869}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:21763481}.
uniprot
proteins
mass_dalton
19261
uniprot
proteins
protein_family
B9D family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19208769
uniprot
proteins
pubmed
21763481
uniprot
proteins
pubmed
26092869
uniprot
proteins
pubmed
31411728
uniprot
proteins
sequence_length
175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19208769}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19208769}. Nucleus {ECO:0000250}.
uniprot
proteins