1. Gene
  2. FAM20C - FAM20C golgi associated secretory pathway kinase Gene

FAM20C - FAM20C golgi associated secretory pathway kinase Gene

中文名称:FAM20C 高尔基体相关分泌途径激酶

种属: Homo sapiens

同用名: RNS; DMP4; G-CK; DMP-4; GEF-CK

基因 ID: 56975 | 基因类型: protein coding

关于 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.

功能概要

该基因编码分泌蛋白激酶家族的一个成员。编码的蛋白质结合钙并磷酸化参与骨矿化的蛋白质。该基因的突变与常染色体隐性遗传病 Raine 综合征有关。[RefSeq 提供,2014 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_020223.4 NP_064608.2 extracellular serine/threonine protein kinase FAM20C precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables manganese ion binding IDA
IDA: 通过直接分析推断
23754375 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
34349020 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22582013 GOA
enables protein kinase activity IDA
IDA: 通过直接分析推断
34349020 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
22582013 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in biomineral tissue development IMP
IMP: 通过突变表型推断
22582013 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
23754375 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
22582013 GOA
located in Golgi membrane IDA
IDA: 通过直接分析推断
34349020 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
22582013 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FAM20C 蛋白结构

Fam20C

Fam20C: Golgi casein kinase, C-terminal, Fam20 (353 - 573)

  • 0
  • 100
  • 200
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  • 400
  • 500
  • 584 a.a.
蛋白主名 其他名称

extracellular serine/threonine protein kinase FAM20C

Golgi casein kinase

FAM20C 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FAM20C Q8IXL6 ENAM Homo sapiens Q9NRM1
Protein Kinase Assay
25789606
种属内
FAM20C Q8IXL6 AMTN Homo sapiens Q6UX39
Protein Kinase Assay
25789606
种属内
FAM20C Q8IXL6 FAM20A Homo sapiens Q96MK3
Protein Kinase Assay
25789606
种属内
FAM20C Q8IXL6 FAM20A Homo sapiens Q96MK3
GMS
25789606
种属内
FAM20C Q8IXL6 FAM20A Homo sapiens Q96MK3
Solution Sedimentation
25789606
种属内
FAM20C Q8IXL6 P10451-PRO_0000020321 Homo sapiens P10451-PRO_0000020321
Protein Kinase Assay
22582013
种属内
FAM20C Q8IXL6 P10451-PRO_0000020321 Homo sapiens P10451-PRO_0000020321
Protein Kinase Assay
25789606
种属内
FAM20C Q8IXL6 AMBN Homo sapiens Q9NP70
Protein Kinase Assay
25789606
种属内
FAM20C Q8IXL6 FGA Homo sapiens P02671
Protein Kinase Assay
26091039
种属内
FAM20C Q8IXL6 CHGB Homo sapiens P05060
Protein Kinase Assay
22582013
种属内
FAM20C Q8IXL6 SPP1 Homo sapiens P10451
IF
22582013
种属内
FAM20C Q8IXL6 PRH1 Homo sapiens P02810
Protein Kinase Assay
26091039
种属间
FAM20C Q8IXL6 CSN2 Bos taurus P02666
Protein Kinase Assay
26091039
种属间
FAM20C Q8IXL6 CSN2 Bos taurus P02666
Protein Kinase Assay
22582013
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 FAM20C 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71677 FAM20C Protein, Human (HEK293, Myc, His) Q8IXL6-1 (D93-R584) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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