1. Gene
  2. FAM20B - FAM20B glycosaminoglycan xylosylkinase Gene

FAM20B - FAM20B glycosaminoglycan xylosylkinase Gene

Homo sapiens

Also known as gxk1

Gene ID: 9917 | Gene type: protein coding

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 Reference 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 Reference 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

Fam20C: Golgi casein kinase, C-terminal, Fam20 (190 - 402)

  • 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 Reference
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

Cat. No. Product Name Accession Purity
HY-P76326 FAM20B Protein, Human (HEK293, Fc) O75063/NP_055679.1 (S31-L409) ≥95%

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

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