FAM20A - FAM20A golgi associated secretory pathway pseudokinase Gene

Also Known as AI1G; AIGFS; FP2747

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54757

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25789606	GOA
enables protein serine/threonine kinase activator activity	IDA IDA: Inferred from direct assay	25789606	GOA
NOT enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	25789606	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in biomineral tissue development	IMP IMP: Inferred from mutant phenotype	25789606	GOA
involved in calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	23434854	GOA
involved in enamel mineralization	IMP IMP: Inferred from mutant phenotype	21549343	GOA
involved in positive regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	25789606	GOA
involved in tooth eruption	IMP IMP: Inferred from mutant phenotype	21990045	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
colocalizes with Golgi apparatus	IDA IDA: Inferred from direct assay	22582013	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

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

FAM20A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	FAM20A	Q96MK3	FAM20C	Homo sapiens	Q8IXL6	Anti Tag CoIP	25789606

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS04704	FAM20A Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	FAM20A	NCBI