Gene Gene information from NCBI Gene database.
Entrez ID 9917
Gene name FAM20B glycosaminoglycan xylosylkinase
Gene symbol FAM20B
Synonyms (NCBI Gene)
gxk1
Chromosome 1
Chromosome location 1q25.2
miRNA miRNA information provided by mirtarbase database.
775
miRTarBase ID miRNA Experiments Reference
MIRT016430 hsa-miR-193b-3p Microarray 20304954
MIRT024806 hsa-miR-215-5p Microarray 19074876
MIRT026506 hsa-miR-192-5p Microarray 19074876
MIRT029368 hsa-miR-26b-5p Microarray 19088304
MIRT030835 hsa-miR-21-5p Microarray 18591254
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 25331875, 25789606, 28514442, 32296183, 33961781
GO:0005524 Function ATP binding IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611063 23017 ENSG00000116199
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75063
Protein name Glycosaminoglycan xylosylkinase (EC 2.7.1.-) (Xylose kinase)
Protein function Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06702 Fam20C 187 399 Golgi casein kinase, C-terminal, Fam20 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Strongly expressed in pancreas, spleen and fetal liver. {ECO:0000269|PubMed:15676076, ECO:0000269|PubMed:24425863}.
Sequence
MKLKQRVVLLAILLVIFIFTKVFLIDNLDTSAANREDQRAFHRMMTGLRVELAPKLDHTL
QSPWEIAAQWVVPREVYPEETPELGAVMHAMATKKIIKADVGYKGTQLKALLILEGGQKV
VFKPKRYSRDHVVEGEPYAGYDRHNAEVAAFHLDRILGFHRAPLVVGRFVNLRTEIKPVA
TEQLLSTFLTVGNNTCFYGKCYYCRETEPACADGDIMEGSVTLWLPDVWPLQKHRHPWGR
TYREGKLARWEYDESYCDAVKKTSPYDSGPRLLDIIDTAVFDYLIGNADRHHYESFQDDE
GASMLILLDNAKSFGNPSLDERSILAPLYQCCIIRVSTWNRLNYLKNGVLKSALKSAMAH
DPISPVLSDPHLDAVDQRLLSVLATVKQCTDQFGMDTVL
VEDRMPLSHL
Sequence length 409
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS DYSPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Ehlers Danlos Syndrome Associate 25331875
★☆☆☆☆
Found in Text Mining only
Kashin Beck Disease Associate 32517548
★☆☆☆☆
Found in Text Mining only
Nance Horan syndrome Associate 31133012
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Associate 32517548
★☆☆☆☆
Found in Text Mining only