FAM20A - FAM20A golgi associated secretory pathway pseudokinase Gene

中文名称：FAM20A 高尔基体相关分泌途径假激酶

种属: Homo sapiens

同用名: AI1G; AIGFS; FP2747

基因 ID: 54757 | 基因类型: protein coding

关于 FAM20A

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,535,116-68,601,367 (from NCBI)

This gene has 7 transcripts (splice variants), 215 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in salivary gland (RPKM 7.2), liver (RPKM 6.1) and 23 other tissues.

功能概要

该基因座编码一种可能被分泌并可能在造血功能中发挥作用的蛋白质。该位点的突变与釉质发育不全和牙龈增生综合征有关。已经鉴定出可变剪接的转录物变体。[RefSeq 提供，2011 年 8 月]

This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

FAM20A 基因产物(2)

mRNA	Protein	Name
NM_001243746.2	NP_001230675.1	pseudokinase FAM20A isoform b
NM_017565.4	NP_060035.2	pseudokinase FAM20A isoform a 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 protein binding	IPI IPI: 通过物理相互作用推断	25789606	GOA
enables protein serine/threonine kinase activator activity	IDA IDA: 通过直接分析推断	25789606	GOA
NOT enables protein serine/threonine kinase activity	IDA IDA: 通过直接分析推断	25789606	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	25789606	GOA
involved in calcium ion homeostasis	IMP IMP: 通过突变表型推断	23434854	GOA
involved in enamel mineralization	IMP IMP: 通过突变表型推断	21549343	GOA
involved in positive regulation of protein phosphorylation	IDA IDA: 通过直接分析推断	25789606	GOA
involved in tooth eruption	IMP IMP: 通过突变表型推断	21990045	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with Golgi apparatus	IDA IDA: 通过直接分析推断	22582013	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

FAM20A 蛋白结构

Fam20C

0
100
200
300
400
500
541 a.a.

蛋白主名

其他名称

pseudokinase FAM20A

family with sequence similarity 20, member A

FAM20A 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	FAM20A	Q96MK3	FAM20C	Homo sapiens	Q8IXL6	Anti Tag CoIP	25789606

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome	Ers
Amelogenesis Imperfecta Type 1g	AI1G
Enamel-Renal-Gingival Syndrome	Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome
Aigfs	Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis
Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis	Amelogenesis Imperfecta Type Ig
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome	Amelogenesis Imperfecta 1g
Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis	Amelogenesis Imperfecta Nephrocalcinosis

Amelogenesis Imperfecta Hypoplastic Type, Ig

Amelogenesis Imperfecta Nephrocalcinosis	Amelogenesis Imperfecta And Nephrocalcinosis
Absent Enamel, Nephrocalcinosis And Apparently Normal Calcium Metabolism	Ers
Enamel Renal Syndrome	Generalized Enamel Hypoplasia And Renal Dysfunction
Ai1g	Enamel-Renal Syndrome

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Hypoplastic Amelogenesis Imperfecta

Amelogenesis Imperfecta Type 1	Amelogenesis Imperfecta, Hypoplastic Type
Amelogenesis Imperfecta Local Hypoplastic Form

Nephrocalcinosis

Hypercalcemic Nephropathy

Dental Pulp Calcification

Pulp Calcification	Pulp Calcifications
Pulpal Calcifications	Dental Pulp Stone

Gingival Overgrowth

Gingival Enlargement	Gingival Hyperplasia
Gingival Bulge	Gingival Enlargement Nos
Gingival Hypertrophy	Gum Hypertrophy
Hyperplasia Gum	Gingival Thickening
Hyperplasia Of Gingiva	Hypertrophy Of Gingiva
Hypertrophy Of Mucous Membrane Of Gums

Amelogenesis Imperfecta, Type Ic

Amelogenesis Imperfecta Type 1c	AI1C
Amelogenesis Imperfecta Type Ic	Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive
Amelogenesis Imperfecta, Hypoplastic, With Or Without Open-Bite Malocclusion, Autosomal Recessive	Autosomal Recessive Amelogenesis Imperfecta Hypoplastic With Or Without Openbite Malocclusion
Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type	Amelogenesis Imperfecta 1c
Amelogenesis Imperfecta Hypoplastic With Or Without Openbite Malocclusion Autosomal Recessive	Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive

Microcephaly And Chorioretinopathy 1

Gingival Fibromatosis

Hereditary Gingival Fibromatosis	Hereditary Gingival Hyperplasia
Autosomal Dominant Gingival Fibromatosis	Autosomal Dominant Gingival Hyperplasia
Fibromatosis, Gingival, Hereditary	Fibromatosis, Gingival

Superficial Keratitis

Heimler Syndrome 1

Deafness Enamel Hypoplasia Nail Defects	Heimler Syndrome
HMLR1	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
Peroxisome Biogenesis Disorder 1c	Pbd1c
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities
Peroxisomal Biogenesis Disorder 1c	Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects
Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome	Heimler, Syndrome
Heimler Syndrome, Type 1

Jalili Syndrome

Cone-Rod Dystrophy And Amelogenesis Imperfecta	Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome
Cone-Rod Dystrophy Amelogenesis Imperfecta	Cone-Rod Dystrophy With Amelogenesis Imperfecta
JALIS	Cone Rod Dystrophy Amelogenesis Imperfecta

Immunodeficiency 9

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1	Combined Immunodeficiency Due To Orai1 Deficiency
IMD9	Cid Due To Orai1 Deficiency
Severe Combined Immunodeficiency Due To Crac Channel Dysfunction	Immunodeficiency, Type 9

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome	Tdo Syndrome
Trichodontoosseous Syndrome	TDO
Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Amelogenesis Imperfecta, Type Iiia

Ai3	Adhcai
Amelogenesis Imperfecta Type 3	AI3A
Amelogenesis Imperfecta, Type Iii	Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant
Amelogenesis Imperfecta Type 3a	Amelogenesis Imperfecta Hypomineralization Type
Amelogenesis Imperfecta Type Iii	Hypocalcified Amelogenesis Imperfecta
Amelogenesis Imperfecta, Type 3	Amelogenesis Imperfecta, Hypomineralization Type
Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type	Amelogenesis Imperfecta 3a
Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Teeth Hard Tissue Disease

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome	KTZS
Epilepsy And Yellow Teeth	Kohlschutter Tonz Syndrome
Kohlschutter Syndrome	Epilepsy Dementia Amelogenesis Imperfecta
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome	Epilepsy, Dementia, And Amelogenesis Imperfecta
Kohlschutter'S Syndrome	Kohlschütter-Tönz Syndrome
Kohlschuetter-Toenz Syndrome	Presenile Dementia
Dementia

Hypercementosis

Cementation Hyperplasia

Gingival Disease

Gingival Diseases	Gum Disease
Gingival Disorder	Gingivitis And Periodontal Diseases

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional	Jeb
Epidermolysis Bullosa Atrophicans	Congenital Junctional Epidermolysis Bullosa
Epidermolysis Bullosa Junctional	Junctional Eb - [Epidermolysis Bullosa]
Jeb - [Junctional Epidermolysis Bullosa]	Lucidolytic Epidermolysis Bullosa

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04704	FAM20A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	FAM20A	VGNC	VGNC:99149
Felis catus	FAM20A	VGNC	VGNC:97429
Rattus norvegicus	FAM20A	RGD	RGD:1306364
Mus musculus	FAM20A	MGD	MGI:2388266
Bos taurus	FAM20A	VGNC	VGNC:28785
Canis familiaris	FAM20A	VGNC	VGNC:40654

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4