Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54757
Gene name Gene Name - the full gene name approved by the HGNC.	FAM20A golgi associated secretory pathway pseudokinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FAM20A
Synonyms (NCBI Gene) Gene synonyms aliases	AI1G, AIGFS, FP2747
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AI1G
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 identi

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144411158	G>A,T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs587776911	AG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs587776914	T>C	Pathogenic	Splice acceptor variant
rs587777531	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all(236)

miRTarBase ID	miRNA	Experiments
MIRT983940	hsa-miR-1233	CLIP-seq
MIRT983941	hsa-miR-1303	CLIP-seq
MIRT983942	hsa-miR-3125	CLIP-seq
MIRT983943	hsa-miR-3150a-3p	CLIP-seq
MIRT983944	hsa-miR-3150b-3p	CLIP-seq
MIRT983945	hsa-miR-3175	CLIP-seq
MIRT983946	hsa-miR-3916	CLIP-seq
MIRT983947	hsa-miR-3927	CLIP-seq
MIRT983948	hsa-miR-4270	CLIP-seq
MIRT983949	hsa-miR-4434	CLIP-seq
MIRT983950	hsa-miR-4441	CLIP-seq
MIRT983951	hsa-miR-4451	CLIP-seq
MIRT983952	hsa-miR-4516	CLIP-seq
MIRT983953	hsa-miR-4728-3p	CLIP-seq
MIRT983954	hsa-miR-4784	CLIP-seq
MIRT983955	hsa-miR-491-5p	CLIP-seq
MIRT983956	hsa-miR-494	CLIP-seq
MIRT983957	hsa-miR-877	CLIP-seq
MIRT983958	hsa-miR-939	CLIP-seq
MIRT1991627	hsa-miR-101	CLIP-seq
MIRT1991628	hsa-miR-144	CLIP-seq
MIRT1991629	hsa-miR-3145-3p	CLIP-seq
MIRT1991630	hsa-miR-582-5p	CLIP-seq
MIRT1991631	hsa-miR-600	CLIP-seq
MIRT983940	hsa-miR-1233	CLIP-seq
MIRT2225723	hsa-miR-1257	CLIP-seq
MIRT2225724	hsa-miR-1296	CLIP-seq
MIRT2225725	hsa-miR-299-3p	CLIP-seq
MIRT983943	hsa-miR-3150a-3p	CLIP-seq
MIRT2225726	hsa-miR-3151	CLIP-seq
MIRT983945	hsa-miR-3175	CLIP-seq
MIRT2225727	hsa-miR-3607-5p	CLIP-seq
MIRT2225728	hsa-miR-3616-5p	CLIP-seq
MIRT2225729	hsa-miR-3647-5p	CLIP-seq
MIRT2225730	hsa-miR-4447	CLIP-seq
MIRT2225731	hsa-miR-4472	CLIP-seq
MIRT2225732	hsa-miR-4512	CLIP-seq
MIRT983953	hsa-miR-4728-3p	CLIP-seq
MIRT2225733	hsa-miR-4795-5p	CLIP-seq
MIRT983955	hsa-miR-491-5p	CLIP-seq
MIRT2225734	hsa-miR-573	CLIP-seq
MIRT983958	hsa-miR-939	CLIP-seq
MIRT2387820	hsa-miR-193a-3p	CLIP-seq
MIRT2387821	hsa-miR-193b	CLIP-seq
MIRT2387822	hsa-miR-3064-5p	CLIP-seq
MIRT2387823	hsa-miR-4652-3p	CLIP-seq
MIRT2387824	hsa-miR-4778-5p	CLIP-seq
MIRT2387825	hsa-miR-604	CLIP-seq
MIRT2387826	hsa-miR-647	CLIP-seq
MIRT2387827	hsa-miR-892b	CLIP-seq
MIRT2449308	hsa-miR-3654	CLIP-seq
MIRT2449309	hsa-miR-378	CLIP-seq
MIRT2449310	hsa-miR-378b	CLIP-seq
MIRT2449311	hsa-miR-378c	CLIP-seq
MIRT2449312	hsa-miR-378d	CLIP-seq
MIRT2449313	hsa-miR-378e	CLIP-seq
MIRT2449314	hsa-miR-378f	CLIP-seq
MIRT2449315	hsa-miR-378h	CLIP-seq
MIRT2449316	hsa-miR-378i	CLIP-seq
MIRT2449317	hsa-miR-422a	CLIP-seq
MIRT2449318	hsa-miR-4522	CLIP-seq
MIRT2449319	hsa-miR-4738-3p	CLIP-seq
MIRT2449320	hsa-miR-4762-3p	CLIP-seq
MIRT2449321	hsa-miR-4766-5p	CLIP-seq
MIRT983956	hsa-miR-494	CLIP-seq
MIRT2529451	hsa-miR-1	CLIP-seq
MIRT1991627	hsa-miR-101	CLIP-seq
MIRT2529452	hsa-miR-106a	CLIP-seq
MIRT2529453	hsa-miR-106b	CLIP-seq
MIRT2529454	hsa-miR-1225-3p	CLIP-seq
MIRT983940	hsa-miR-1233	CLIP-seq
MIRT2529455	hsa-miR-1270	CLIP-seq
MIRT2529456	hsa-miR-1295	CLIP-seq
MIRT2529457	hsa-miR-136	CLIP-seq
MIRT1991628	hsa-miR-144	CLIP-seq
MIRT2529458	hsa-miR-149	CLIP-seq
MIRT2529459	hsa-miR-17	CLIP-seq
MIRT2529460	hsa-miR-192	CLIP-seq
MIRT2529461	hsa-miR-194	CLIP-seq
MIRT2529462	hsa-miR-206	CLIP-seq
MIRT2529463	hsa-miR-20a	CLIP-seq
MIRT2529464	hsa-miR-20b	CLIP-seq
MIRT2529465	hsa-miR-215	CLIP-seq
MIRT2529466	hsa-miR-2277-3p	CLIP-seq
MIRT2529467	hsa-miR-298	CLIP-seq
MIRT2529468	hsa-miR-302a	CLIP-seq
MIRT2529469	hsa-miR-302b	CLIP-seq
MIRT2529470	hsa-miR-302c	CLIP-seq
MIRT2529471	hsa-miR-302d	CLIP-seq
MIRT2529472	hsa-miR-302e	CLIP-seq
MIRT2387822	hsa-miR-3064-5p	CLIP-seq
MIRT2529473	hsa-miR-3121-5p	CLIP-seq
MIRT2529474	hsa-miR-3136-3p	CLIP-seq
MIRT2529475	hsa-miR-3158-5p	CLIP-seq
MIRT2529476	hsa-miR-3176	CLIP-seq
MIRT2529477	hsa-miR-3194-3p	CLIP-seq
MIRT2529478	hsa-miR-3545-3p	CLIP-seq
MIRT2529479	hsa-miR-3591-5p	CLIP-seq
MIRT2529480	hsa-miR-3606	CLIP-seq
MIRT2529481	hsa-miR-3673	CLIP-seq
MIRT2529482	hsa-miR-3688-3p	CLIP-seq
MIRT2529483	hsa-miR-372	CLIP-seq
MIRT2529484	hsa-miR-373	CLIP-seq
MIRT2529485	hsa-miR-3922-3p	CLIP-seq
MIRT2529486	hsa-miR-3934	CLIP-seq
MIRT2529487	hsa-miR-432	CLIP-seq
MIRT2529488	hsa-miR-4418	CLIP-seq
MIRT2529489	hsa-miR-4453	CLIP-seq
MIRT2529490	hsa-miR-4503	CLIP-seq
MIRT2529491	hsa-miR-4530	CLIP-seq
MIRT2529492	hsa-miR-4531	CLIP-seq
MIRT2529493	hsa-miR-4538	CLIP-seq
MIRT2529494	hsa-miR-4641	CLIP-seq
MIRT2529495	hsa-miR-4645-5p	CLIP-seq
MIRT2529496	hsa-miR-4673	CLIP-seq
MIRT2529497	hsa-miR-4680-5p	CLIP-seq
MIRT2529498	hsa-miR-4693-5p	CLIP-seq
MIRT2529499	hsa-miR-4731-5p	CLIP-seq
MIRT2529500	hsa-miR-4747-3p	CLIP-seq
MIRT2529501	hsa-miR-4753-3p	CLIP-seq
MIRT2529502	hsa-miR-4786-5p	CLIP-seq
MIRT2529503	hsa-miR-4794	CLIP-seq
MIRT2529504	hsa-miR-483-3p	CLIP-seq
MIRT2529505	hsa-miR-509-3-5p	CLIP-seq
MIRT2529506	hsa-miR-5095	CLIP-seq
MIRT2529507	hsa-miR-509-5p	CLIP-seq
MIRT2529508	hsa-miR-512-3p	CLIP-seq
MIRT2529509	hsa-miR-519d	CLIP-seq
MIRT2529510	hsa-miR-520a-3p	CLIP-seq
MIRT2529511	hsa-miR-520b	CLIP-seq
MIRT2529512	hsa-miR-520c-3p	CLIP-seq
MIRT2529513	hsa-miR-520d-3p	CLIP-seq
MIRT2529514	hsa-miR-520e	CLIP-seq
MIRT2529515	hsa-miR-520g	CLIP-seq
MIRT2529516	hsa-miR-520h	CLIP-seq
MIRT2529517	hsa-miR-526b	CLIP-seq
MIRT2529518	hsa-miR-542-3p	CLIP-seq
MIRT2529519	hsa-miR-552	CLIP-seq
MIRT1991630	hsa-miR-582-5p	CLIP-seq
MIRT2529520	hsa-miR-599	CLIP-seq
MIRT1991631	hsa-miR-600	CLIP-seq
MIRT2529521	hsa-miR-613	CLIP-seq
MIRT2529522	hsa-miR-620	CLIP-seq
MIRT2529523	hsa-miR-668	CLIP-seq
MIRT2529524	hsa-miR-769-5p	CLIP-seq
MIRT2529525	hsa-miR-802	CLIP-seq
MIRT2529526	hsa-miR-921	CLIP-seq
MIRT2529527	hsa-miR-93	CLIP-seq
MIRT2529528	hsa-miR-944	CLIP-seq
MIRT2529451	hsa-miR-1	CLIP-seq
MIRT1991627	hsa-miR-101	CLIP-seq
MIRT2529452	hsa-miR-106a	CLIP-seq
MIRT2529453	hsa-miR-106b	CLIP-seq
MIRT2529454	hsa-miR-1225-3p	CLIP-seq
MIRT983940	hsa-miR-1233	CLIP-seq
MIRT2529455	hsa-miR-1270	CLIP-seq
MIRT2529456	hsa-miR-1295	CLIP-seq
MIRT2529457	hsa-miR-136	CLIP-seq
MIRT1991628	hsa-miR-144	CLIP-seq
MIRT2529458	hsa-miR-149	CLIP-seq
MIRT2529459	hsa-miR-17	CLIP-seq
MIRT2529460	hsa-miR-192	CLIP-seq
MIRT2529461	hsa-miR-194	CLIP-seq
MIRT2529462	hsa-miR-206	CLIP-seq
MIRT2529463	hsa-miR-20a	CLIP-seq
MIRT2529464	hsa-miR-20b	CLIP-seq
MIRT2529465	hsa-miR-215	CLIP-seq
MIRT2529466	hsa-miR-2277-3p	CLIP-seq
MIRT2529467	hsa-miR-298	CLIP-seq
MIRT2529468	hsa-miR-302a	CLIP-seq
MIRT2529469	hsa-miR-302b	CLIP-seq
MIRT2529470	hsa-miR-302c	CLIP-seq
MIRT2529471	hsa-miR-302d	CLIP-seq
MIRT2529472	hsa-miR-302e	CLIP-seq
MIRT2387822	hsa-miR-3064-5p	CLIP-seq
MIRT2680651	hsa-miR-3065-5p	CLIP-seq
MIRT2529473	hsa-miR-3121-5p	CLIP-seq
MIRT2529474	hsa-miR-3136-3p	CLIP-seq
MIRT2529475	hsa-miR-3158-5p	CLIP-seq
MIRT2529476	hsa-miR-3176	CLIP-seq
MIRT2529477	hsa-miR-3194-3p	CLIP-seq
MIRT2529478	hsa-miR-3545-3p	CLIP-seq
MIRT2529479	hsa-miR-3591-5p	CLIP-seq
MIRT2529480	hsa-miR-3606	CLIP-seq
MIRT2529481	hsa-miR-3673	CLIP-seq
MIRT2529482	hsa-miR-3688-3p	CLIP-seq
MIRT2529483	hsa-miR-372	CLIP-seq
MIRT2529484	hsa-miR-373	CLIP-seq
MIRT2529485	hsa-miR-3922-3p	CLIP-seq
MIRT2529486	hsa-miR-3934	CLIP-seq
MIRT2680652	hsa-miR-3942-3p	CLIP-seq
MIRT2529487	hsa-miR-432	CLIP-seq
MIRT2529488	hsa-miR-4418	CLIP-seq
MIRT2529489	hsa-miR-4453	CLIP-seq
MIRT2529490	hsa-miR-4503	CLIP-seq
MIRT2529491	hsa-miR-4530	CLIP-seq
MIRT2529492	hsa-miR-4531	CLIP-seq
MIRT2529493	hsa-miR-4538	CLIP-seq
MIRT2529494	hsa-miR-4641	CLIP-seq
MIRT2529495	hsa-miR-4645-5p	CLIP-seq
MIRT2529496	hsa-miR-4673	CLIP-seq
MIRT2529497	hsa-miR-4680-5p	CLIP-seq
MIRT2529498	hsa-miR-4693-5p	CLIP-seq
MIRT2529499	hsa-miR-4731-5p	CLIP-seq
MIRT2529500	hsa-miR-4747-3p	CLIP-seq
MIRT2529501	hsa-miR-4753-3p	CLIP-seq
MIRT2449320	hsa-miR-4762-3p	CLIP-seq
MIRT2529502	hsa-miR-4786-5p	CLIP-seq
MIRT2529503	hsa-miR-4794	CLIP-seq
MIRT2529504	hsa-miR-483-3p	CLIP-seq
MIRT2529505	hsa-miR-509-3-5p	CLIP-seq
MIRT2529506	hsa-miR-5095	CLIP-seq
MIRT2529507	hsa-miR-509-5p	CLIP-seq
MIRT2529508	hsa-miR-512-3p	CLIP-seq
MIRT2529509	hsa-miR-519d	CLIP-seq
MIRT2529510	hsa-miR-520a-3p	CLIP-seq
MIRT2529511	hsa-miR-520b	CLIP-seq
MIRT2529512	hsa-miR-520c-3p	CLIP-seq
MIRT2529513	hsa-miR-520d-3p	CLIP-seq
MIRT2529514	hsa-miR-520e	CLIP-seq
MIRT2529515	hsa-miR-520g	CLIP-seq
MIRT2529516	hsa-miR-520h	CLIP-seq
MIRT2529517	hsa-miR-526b	CLIP-seq
MIRT2529518	hsa-miR-542-3p	CLIP-seq
MIRT2529519	hsa-miR-552	CLIP-seq
MIRT1991630	hsa-miR-582-5p	CLIP-seq
MIRT2529520	hsa-miR-599	CLIP-seq
MIRT1991631	hsa-miR-600	CLIP-seq
MIRT2529521	hsa-miR-613	CLIP-seq
MIRT2529522	hsa-miR-620	CLIP-seq
MIRT2529523	hsa-miR-668	CLIP-seq
MIRT2529524	hsa-miR-769-5p	CLIP-seq
MIRT2529525	hsa-miR-802	CLIP-seq
MIRT2529526	hsa-miR-921	CLIP-seq
MIRT2529527	hsa-miR-93	CLIP-seq
MIRT2529528	hsa-miR-944	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	25789606
GO:0001934	Process	Positive regulation of protein phosphorylation	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	25789606
GO:0005515	Function	Protein binding	IPI	25789606
GO:0005615	Component	Extracellular space	IDA	22582013
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	22582013
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0009617	Process	Response to bacterium	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IBA	21873635
GO:0031214	Process	Biomineral tissue development	IMP	25789606
GO:0043539	Function	Protein serine/threonine kinase activator activity	IBA	21873635
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	25789606
GO:0044691	Process	Tooth eruption	IMP	21990045, 23434854, 23468644, 23697977
GO:0055074	Process	Calcium ion homeostasis	IMP	23434854
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070166	Process	Enamel mineralization	IBA	21873635
GO:0070166	Process	Enamel mineralization	IMP	21549343, 21990045, 23468644
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IEA

MIM	HGNC	e!Ensembl
611062	23015	ENSG00000108950

Protein

UniProt ID

Q96MK3

Protein name

Pseudokinase FAM20A

Protein function

Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins th

PDB

5WRR , 5WRS , 5YH2 , 5YH3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06702	Fam20C	305 → 522	Golgi casein kinase, C-terminal, Fam20	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in lung and liver. Intermediate levels in thymus and ovary. {ECO:0000269|PubMed:15676076}.

Sequence

MPGLRRDRLLTLLLLGALLSADLYFHLWPQVQRQLRPRERPRGCPCTGRASSLARDSAAA
ASDPGTIVHNFSRTEPRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQ
EALRYYRRKVARWNRRHKMYREQMNLTSLDPPLQLRLEASWVQFHLGINRHGLYSRSSPV
VSKLLQDMRHFPTISADYSQDEKALLGACDCTQIVKPSGVHLKLVLRFSDFGKAMFKPMR
QQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPPTVGRIVNVTKEILEVTKNEI
LQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLAPRLSVPNPWI
RSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKF
GDDGFLIHLDNARGFGRHSHDEISILSPLSQCCMIKKKTLLHLQLLAQADYRLSDVMRES
LLEDQLSPVLTEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDGPVEQLAPDSGQANLT
S

Sequence length

541

Interactions

View interactions

	Reactome
			Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Amelogenesis imperfecta	Amelogenesis Imperfecta, Amelogenesis imperfecta nephrocalcinosis	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489 View all (70 more)	23468644, 24259279, 25827751, 22732358, 24196488, 23434854, 21549343, 25636655, 24756937, 21990045, 25789606, 23697977
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	31131889
Amelogenesis Imperfecta	Associate	21549343, 23434854, 25636655, 30120606, 36351670, 38546520
Amelogenesis imperfecta local hypoplastic form	Associate	30120606, 36351670
Calcinosis	Inhibit	34957696
Calcinosis	Associate	38546520
Carcinoma Hepatocellular	Associate	33371894
Dental Enamel Hypoplasia	Associate	31131889
Fibroma	Associate	34777248
Fibromatosis Gingival	Associate	25636655
Genetic Diseases Inborn	Associate	23434854, 25636655, 34957696
Gingival Hyperplasia	Associate	21549343, 25636655, 31131889
Glioblastoma	Associate	35456975
Hashimoto Disease	Associate	39510033
Hypomagnesemia primary	Associate	37960754
Leukemia	Associate	39216403
Leukemia Lymphoid	Associate	39216403
Nephrocalcinosis	Associate	23434854, 31131889, 34957696, 36351670
Nephrolithiasis	Associate	36351670
Thyroid Cancer Papillary	Stimulate	39510033

FAM20A (FAM20A golgi associated secretory pathway pseudokinase)