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FAM20B - FAM20B glycosaminoglycan xylosylkinase Gene

Also Known as gxk1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9917

About FAM20B

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,017,334-179,076,567 (from NCBI)

This gene has 2 transcripts (splice variants), 207 orthologues and 2 paralogues. Ubiquitous expression in adrenal (RPKM 13.7), brain (RPKM 12.6) and 25 other tissues.

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, Apr 2022]

FAM20B Products (3)

mRNA	Protein	Name
NM_001324310.2	NP_001311239.1	glycosaminoglycan xylosylkinase
NM_001324311.2	NP_001311240.1	glycosaminoglycan xylosylkinase
NM_014864.4	NP_055679.1	glycosaminoglycan xylosylkinase

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables phosphotransferase activity, alcohol group as acceptor	IDA IDA: Inferred from direct assay	19473117	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25331875	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	19473117	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAM20B Protein Structure

Fam20C

0
100
200
300
409 a.a.

Protein Preferred Names	Protein Names
glycosaminoglycan xylosylkinase	family with sequence similarity 20, member B

FAM20B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	FAM20B	O75063	BSCL2	Homo sapiens	J3KQ12	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	BSCL2	Homo sapiens	J3KQ12	Y2H Array	32296183
Intra	FAM20B	O75063	TMEM80	Homo sapiens	Q96HE8	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	TMEM80	Homo sapiens	Q96HE8	Validated Y2H	32296183
Intra	FAM20B	O75063	TMEM80	Homo sapiens	Q96HE8	Y2H Array	32296183
Intra	FAM20B	O75063	KCNJ6	Homo sapiens	P48051	Validated Y2H	32296183
Intra	FAM20B	O75063	KCNJ6	Homo sapiens	P48051	Y2H Array	32296183
Intra	FAM20B	O75063	KCNJ6	Homo sapiens	P48051	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	GPR152	Homo sapiens	Q8TDT2	Validated Y2H	32296183
Intra	FAM20B	O75063	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	FAM20B	O75063	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	FAM209A	Homo sapiens	Q5JX71	Validated Y2H	32296183
Intra	FAM20B	O75063	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	FAM20B	O75063	ASPHD2	Homo sapiens	Q6ICH7	Anti Tag CoIP	33961781
Intra	FAM20B	O75063	ASPHD2	Homo sapiens	Q6ICH7	Anti Tag CoIP	28514442
Intra	FAM20B	O75063	FFAR2	Homo sapiens	O15552	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	FFAR2	Homo sapiens	O15552	Y2H Array	32296183
Intra	FAM20B	O75063	SLC7A14	Homo sapiens	Q8TBB6	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	SLC7A14	Homo sapiens	Q8TBB6	Validated Y2H	32296183
Intra	FAM20B	O75063	SLC7A14	Homo sapiens	Q8TBB6	Y2H Array	32296183
Intra	FAM20B	O75063	TIMMDC1	Homo sapiens	Q9NPL8	Validated Y2H	32296183
Intra	FAM20B	O75063	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Prey Pooling	32296183
Intra	FAM20B	O75063	TIMMDC1	Homo sapiens	Q9NPL8	Y2H Array	32296183
Intra	FAM20B	O75063	DCN	Homo sapiens	P07585	Phosphotransferase	25331875
Intra	FAM20B	O75063	DCN	Homo sapiens	P07585	Protein Kinase Assay	25789606

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FAM20B Proteins

Referencia número	Nombre del producto	Accession	Pureza
HY-P76326	FAM20B Protein, Human (HEK293, Fc)	O75063/NP_055679.1 (S31-L409)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Desbuquois Dysplasia	Desbuquois Syndrome Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification Dysplasia, Desbuquois
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Temtamy Preaxial Brachydactyly Syndrome	Preaxial Brachydactyly Syndrome, Temtamy Type TPBS Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies Preaxial Brachydactyly Syndrome Temtamy Type
Hereditary Multiple Exostoses	Multiple Congenital Exostosis Hereditary Multiple Exostoses 1 Hereditary Multiple Exostoses 2 Hereditary Multiple Exostoses 3 Multiple Exostosis Syndromes Multiple Ostechondromas Osteochondromatosis Syndrome Exostoses Multiple Hereditary Exostoses, Multiple Hereditary
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Dysplasia, Spondyloepimetaphyseal, With Joint Laxity Semdjl Spondyloepimetaphyseal Dysplasia Joint Laxity Semd-Jl Semdjl1 Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS04705	FAM20B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21854	Fam20b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28371	Fam20b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FAM20B	VGNC	VGNC:28786
Felis catus	FAM20B	VGNC	VGNC:62098
Mus musculus	FAM20B	MGD	MGI:2443990
Canis familiaris	FAM20B	VGNC	VGNC:40655
Rattus norvegicus	FAM20B	RGD	RGD:1311162
Macaca mulatta	FAM20B	VGNC	VGNC:72317
Others	FAM20B	NCBI