FAM20B - FAM20B glycosaminoglycan xylosylkinase Gene

Also Known as gxk1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

製品番号 製品名 アクセッション番号 純度
HY-P76326 FAM20B Protein, Human (HEK293, Fc) O75063/NP_055679.1 (S31-L409) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

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)
製品番号 製品名
製品効果
純度
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

生物種 Symbol 由来 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