FAM20B FAM20B glycosaminoglycan xylosylkinase [Homo sapiens (human) ]

Gene ID: 9917, updated on 5-Jul-2025

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Gene Sequences (FASTA)

Transcript sequences (FASTA)

Protein sequences(FASTA)

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Summary

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Official Symbol: FAM20Bprovided byHGNC
Official Full Name: FAM20B glycosaminoglycan xylosylkinaseprovided byHGNC
Primary source: HGNC:HGNC:23017
See related: Ensembl:ENSG00000116199 MIM:611063;AllianceGenome:HGNC:23017
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: gxk1
Summary: Enables phosphotransferase activity, alcohol group as acceptor. Predicted to be involved in proteoglycan biosynthetic process. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Expression: Ubiquitous expression in adrenal (RPKM 13.7), brain (RPKM 12.6) and 25 other tissuesSee more
Orthologs: mouse all
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Genomic context

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See FAM20B inGenome Data Viewer

Location:: 1q25.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (179017334..179076567)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (178372430..178431587)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (178994939..179045702)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject:PRJNA270632
Publication:PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
Title: Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
The T allele of FAM20B (rs3766626) was associated with susceptibility to two mesiodens
Title: Lack of association between PAX6/SOSTDC1/FAM20B gene polymorphisms and mesiodens.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.

Submit:New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18426 (e-PCR)
- UniSTS:34648

SHGC-75952 (e-PCR)
- UniSTS:45680

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-30547 (e-PCR)
- UniSTS:43907

A006O17 (e-PCR)
- UniSTS:60054

A006M42 (e-PCR)
- UniSTS:63185

SHGC-75993 (e-PCR)
- UniSTS:71136

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphotransferase activity, alcohol group as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables phosphotransferase activity, alcohol group as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: glycosaminoglycan xylosylkinase

Names: family with sequence similarity 20, member B; xylose kinase

NP_001311239.1

EC2.7.1.-

NP_001311240.1

EC2.7.1.-

NP_055679.1

EC2.7.1.-

XP_016858490.1

EC2.7.1.-

XP_016858491.1

EC2.7.1.-

XP_047292049.1

EC2.7.1.-

XP_047292050.1

EC2.7.1.-

XP_054195913.1

EC2.7.1.-

XP_054195914.1

EC2.7.1.-

XP_054195915.1

EC2.7.1.-

XP_054195916.1

EC2.7.1.-

NCBI Reference Sequences (RefSeq)

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NEWTry the newTranscript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds.Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported inGenomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001324310.2 →NP_001311239.1 glycosaminoglycan xylosylkinase
Status: VALIDATED
Source sequence(s)
AL139132
Consensus CDS
CCDS1328.1
UniProtKB/Swiss-Prot
O75063,Q5W0C3,Q5W0C4
Conserved Domains (1)summary
cd10470
Location:188 →394
FAM20B_C; C-terminal putative kinase domain of FAM20B xylose kinase
NM_001324311.2 →NP_001311240.1 glycosaminoglycan xylosylkinase
Status: VALIDATED
Source sequence(s)
AL139132
Consensus CDS
CCDS1328.1
UniProtKB/Swiss-Prot
O75063,Q5W0C3,Q5W0C4
Conserved Domains (1)summary
cd10470
Location:188 →394
FAM20B_C; C-terminal putative kinase domain of FAM20B xylose kinase
NM_014864.4 →NP_055679.1 glycosaminoglycan xylosylkinase
See identical proteins and their annotated locations for NP_055679.1
Status: VALIDATED
Source sequence(s)
AL139132, BC051794, CA844342
Consensus CDS
CCDS1328.1
UniProtKB/Swiss-Prot
O75063,Q5W0C3,Q5W0C4
Related
ENSP00000263733.4,ENST00000263733.5
Conserved Domains (1)summary
cd10470
Location:188 →394
FAM20B_C; C-terminal putative kinase domain of FAM20B xylose kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build.Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.