Gene Gene information from NCBI Gene database.
Entrez ID 51260
Gene name Polysaccharide biosynthesis domain containing 1
Gene symbol PBDC1
Synonyms (NCBI Gene)
CXorf26
Chromosome X
Chromosome location Xq13.3
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT038988 hsa-let-7f-2-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 35156780
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BVG4
Protein name Protein PBDC1 (Polysaccharide biosynthesis domain-containing protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04669 Polysacc_synt_4 35 159 Polysaccharide biosynthesis Family
Sequence
MAATSGTDEPVSGELVSVAHALSLPAESYGNDPDIEMAWAMRAMQHAEVYYKLISSVDPQ
FLKLTKVDDQIYSEFRKNFETLRIDVLDPEELKSESAKEKWRPFCLKFNGIVEDFNYGTL
LRLDCSQGYTEENTIFAPRIQFFAIEIARNREGYNKAVY
ISVQDKEGEKGVNNGGEKRAD
SGEEENTKNGGEKGADSGEEKEEGINREDKTDKGGEKGKEADKEINKSGEKAM
Sequence length 233
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations