FAM20A - FAM20A golgi associated secretory pathway pseudokinase Gene

Homo sapiens

Also known as AI1G; AIGFS; FP2747

Gene ID: 54757 | Gene type: protein coding

About 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.

Summary

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 Products(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

FAM20A Protein Structure

Fam20C

0
100
200
300
400
500
541 a.a.

Protein Preferred Names

Protein Names

pseudokinase FAM20A

family with sequence similarity 20, member A

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04704	FAM20A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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