FAM20C - FAM20C golgi associated secretory pathway kinase Gene

Also Known as RNS; DMP4; G-CK; DMP-4; GEF-CK

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56975

About FAM20C

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:192,571-260,772 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 272 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 13.7), fat (RPKM 6.0) and 24 other tissues.

Summary

This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]

FAM20C Products (1)

mRNA	Protein	Name
NM_020223.4	NP_064608.2	extracellular serine/threonine protein kinase FAM20C precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables manganese ion binding	IDA IDA: Inferred from direct assay	23754375	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	34349020	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22582013	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	34349020	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	22582013	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in biomineral tissue development	IMP IMP: Inferred from mutant phenotype	22582013	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	23754375	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	22582013	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	34349020	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	22582013	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

FAM20C Protein Structure

Fam20C

0
100
200
300
400
500
584 a.a.

Protein Preferred Names	Protein Names
extracellular serine/threonine protein kinase FAM20C	Golgi casein kinase

FAM20C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	FAM20C	Q8IXL6	ENAM	Homo sapiens	Q9NRM1	Protein Kinase Assay	25789606
Intra	FAM20C	Q8IXL6	AMTN	Homo sapiens	Q6UX39	Protein Kinase Assay	25789606
Intra	FAM20C	Q8IXL6	FAM20A	Homo sapiens	Q96MK3	Protein Kinase Assay	25789606
Intra	FAM20C	Q8IXL6	FAM20A	Homo sapiens	Q96MK3	GMS	25789606
Intra	FAM20C	Q8IXL6	FAM20A	Homo sapiens	Q96MK3	Solution Sedimentation	25789606
Intra	FAM20C	Q8IXL6	P10451-PRO_0000020321	Homo sapiens	P10451-PRO_0000020321	Protein Kinase Assay	22582013
Intra	FAM20C	Q8IXL6	P10451-PRO_0000020321	Homo sapiens	P10451-PRO_0000020321	Protein Kinase Assay	25789606
Intra	FAM20C	Q8IXL6	AMBN	Homo sapiens	Q9NP70	Protein Kinase Assay	25789606
Intra	FAM20C	Q8IXL6	FGA	Homo sapiens	P02671	Protein Kinase Assay	26091039
Intra	FAM20C	Q8IXL6	CHGB	Homo sapiens	P05060	Protein Kinase Assay	22582013
Intra	FAM20C	Q8IXL6	SPP1	Homo sapiens	P10451	IF	22582013
Intra	FAM20C	Q8IXL6	PRH1	Homo sapiens	P02810	Protein Kinase Assay	26091039
Cross	FAM20C	Q8IXL6	CSN2	Bos taurus	P02666	Protein Kinase Assay	26091039
Cross	FAM20C	Q8IXL6	CSN2	Bos taurus	P02666	Protein Kinase Assay	22582013

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FAM20C Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P71677	FAM20C Protein, Human (HEK293, Myc, His)	Q8IXL6-1 (D93-R584)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Raine Syndrome	Lethal Osteosclerotic Bone Dysplasia RNS Renal Nutcracker Syndrome Osteomalacia, Sclerosing, With Cerebral Calcification Left Renal Vein Entrapment Syndrome Csocc Osteosclerotic Bone Dysplasia, Lethal Combination Of Microcephaly, Exophthalmos, Hypoplastic Nose And Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, And Osteosclerosis Nutcracker Syndrome
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Diamond-Blackfan Anemia 8	DBA8 Rps7-Related Diamond-Blackfan Anemia Anemia, Diamond-Blackfan, Type 8
Osteomalacia	Adult Rickets
Autosomal Recessive Hypophosphatemic Rickets	Arhr Hypophosphatemic Rickets, Autosomal Recessive Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Conidiobolomycosis	Infection By Conidiobolus Rhinoentomophthoromycosis Entomophthoromycosis Conidiobolae
Microcephaly And Chorioretinopathy 1
Gastric Hemangioma	Hemangioma Of Stomach
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemic Familial Tumoral Calcinosis Hftc Hyperostosis-Hyperphosphatemia Syndrome Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome Tumoral Calcinosis, Hyperphosphatemic, Familial Phptc Lipocalcinogranulomatosis Morbus Teutschlaender Hhs Hyperostosis With Hyperphosphatemia Cortical Hyperostosis With Hyperphosphatemia Primary Hyperphosphatemic Tumoral Calcinosis Familial Tumoral Calcinosis HFTC1 Hypercalcemic Tumoral Calcinosis Hyperphosphatemia Hyperostosis Hyperphosphatemia Hyperostosis Syndrome Hyperphosphatemia Tumoral Calcinosis Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Tumoral Calcinosis, Primary Hyperphosphatemic Teutschlaender Disease, Familial Familial Teutschlaender Disease Tumoral Calcinosis With Hyperphosphatemia Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome Ftc/Hhs Familial Tumoral Calcinosis With Hyperphosphatemia Teutschlaender Disease Tumoral Calcinosis Primary Hyperphosphatemic Calcinosis, Tumoral, Hyperphosphatemic, Familial
Dental Abscess
Hypophosphatemic Rickets, Autosomal Dominant	Autosomal Dominant Hypophosphatemic Rickets ADHR Autosomal Dominant Hypophosphatemia Vitamin D-Resistant Rickets, Autosomal Dominant Hypophosphatemia, Autosomal Dominant Autosomal Dominant Vitamin D-Resistant Rickets Rickets, Hypophosphatemic, Autosomal Dominant
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Osteoglophonic Dysplasia	Osteoglophonic Dwarfism OGD Fairbank-Keats Syndrome Osteoglosphonic Dysplasia Dysplasia, Osteoglophonic
Serous Labyrinthitis	Acute Serous Labyrinthitis
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Hypophosphatemic Rickets, X-Linked Dominant	X-Linked Hypophosphatemia Xlh Vitamin D-Resistant Rickets, X-Linked X-Linked Hypophosphatemic Rickets XLHR Hyp Hypophosphatemic Vitamin D-Resistant Rickets Hpdr X-Linked Dominant Hypophosphatemic Rickets Familial Hypophosphatemic Rickets Hypophosphatemia, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets Hypophosphatemic Rickets X-Linked Dominant X-Linked Vitamin D-Resistant Rickets Hypophophatemia, X-Linked Hypophophatemic Vitamin D-Resistant Rickets Hypophosphatemia X-Linked Vitamin D-Resistant Rickets X-Linked Vitamin D-Resistant Rickets Rickets, X-Linked Hypophosphatemic
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Vitamin D-Dependent Rickets, Type 2a	Hvdrr Generalized Resistance To 1,25-Dihydroxyvitamin D Hypocalcemic Vitamin D-Resistant Rickets VDDR2A Rickets, Hereditary Vitamin D-Resistant Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Pddr Iia Rickets-Alopecia Syndrome Rickets, Vitamin D-Resistant, Type Iia Vitamin D-Dependent Rickets Type 2a Vitamin D-Dependent Rickets, Type 2 Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia Generalized 1,25-Dihydroxyvitamin D Pseudovitamin D-Deficiency, Type Iia Hereditary Vitamin D-Resistant Rickets Vddr Ii Vdrr Ii Vitamin D-Dependent Rickets Type Ii Vitamin D-Resistant Rickets Type Ii Rickets Vitamin D-Dependent 2a Pseudovitamin D-Deficiency Type Iia Rickets Hereditary Vitamin D-Resistant Type Iia Rickets Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia Vitamin D-Dependent Rickets, Type Ii Familial Hypophosphatemic Rickets Hypophosphatemic Rickets, X-Linked Dominant
Arterial Calcification Of Infancy	Idiopathic Infantile Arterial Calcification Generalized Arterial Calcification Of Infancy Iiac Occlusive Infantile Arteriopathy Infantile Arteriosclerosis Gaci Idiopathic Obliterative Arteriopathy Generalized Arterial Calcification In Infancy Arteriopathia Calcificans Infantum Diffuse Arterial Calcifying Elastopathy Of Infancy Infantile Calcifying Arteriopathy Medial Coronary Sclerosis Of Infancy Coronary Sclerosis, Medial, Of Infancy Calcification, Arterial, Generalized, Infancy
Exophthalmos	Proptosis
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Rickets X-Linked Recessive Hypophosphatemic Rickets XLRHR Hypophosphatemic Rickets Disorders Rickets Hypophosphatemic Rickets, Hypophosphatemic, X-Linked Recessive Familial Hypophosphatemic Rickets
Teeth Hard Tissue Disease
Schimmelpenning-Feuerstein-Mims Syndrome	Nevus Sebaceus Of Jadassohn Organoid Nevus Phakomatosis Linear Nevus Sebaceous Syndrome Sfm Syndrome Jadassohn Nevus Phakomatosis Jnp Schimmelpenning Syndrome Solomon Syndrome SFM Linear Sebaceous Nevus Syndrome Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic Nevus Sebaceus Syndrome Organoid Nevus Syndrome Schimmelpenning Feuerstein Mims Syndrome Sebaceous Nevus Syndrome, Linear Epidermal Nevus Syndrome, Formerly Sebaceous Nevus Syndrome Linear Linear Nevus Sebaceus Syndrome Epidermal Nevus Syndrome Ss Nevus Sebaceous
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04706	FAM20C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19506	Fam20c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26000	Fam20c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FAM20C	RGD	RGD:1311980
Macaca mulatta	FAM20C	VGNC	VGNC:108406
Canis familiaris	FAM20C	VGNC	VGNC:40656
Mus musculus	FAM20C	MGD	MGI:2136853
Felis catus	FAM20C	VGNC	VGNC:62099
Bos taurus	FAM20C	VGNC	VGNC:28787
Others	FAM20C	NCBI