Details for: FAM20A

Gene ID: 54757

Symbol: FAM20A

Ensembl ID: ENSG00000108950

Description: FAM20A golgi associated secretory pathway pseudokinase

Associated with

Other Information

Genular Protein ID: 3996752897

Symbol: FA20A_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q96MK3 B2RN47 B2RN49 Q9UF95

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 12 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 4 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 2 SAM 1 SMR 1 STRING 1 SignaLink 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15676076

Title: FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.

PubMed ID: 15676076

DOI: 10.1186/1471-2164-6-11

PubMed ID: 21549343

Title: Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.

PubMed ID: 21549343

DOI: 10.1016/j.ajhg.2011.04.005

PubMed ID: 23697977

Title: Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.

PubMed ID: 23697977

DOI: 10.1038/jhg.2013.44

PubMed ID: 24259279

Title: Enamel-renal-gingival syndrome and FAM20A mutations.

PubMed ID: 24259279

DOI: 10.1002/ajmg.a.36187

PubMed ID: 24756937

Title: Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.

PubMed ID: 24756937

DOI: 10.1002/ajmg.a.36579

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25827751

Title: Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

PubMed ID: 25827751

DOI: 10.1016/j.archoralbio.2015.02.018

PubMed ID: 25636655

Title: Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

PubMed ID: 25636655

DOI: 10.1186/1472-6831-15-14

PubMed ID: 25789606

Title: A secretory kinase complex regulates extracellular protein phosphorylation.

PubMed ID: 25789606

DOI: 10.7554/elife.06120

PubMed ID: 21990045

Title: Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

PubMed ID: 21990045

DOI: 10.1002/humu.21621

PubMed ID: 23434854

Title: Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

PubMed ID: 23434854

DOI: 10.1159/000349989

PubMed ID: 23468644

Title: FAM20A mutations can cause enamel-renal syndrome (ERS).

PubMed ID: 23468644

DOI: 10.1371/journal.pgen.1003302

PubMed ID: 24196488

Title: FAM20A mutations associated with enamel renal syndrome.

PubMed ID: 24196488

DOI: 10.1177/0022034513512653

Sequence Information:

  • Length: 541
  • Mass: 61417
  • Checksum: B44A4655996279A1
  • Sequence:
    • MPGLRRDRLL TLLLLGALLS ADLYFHLWPQ VQRQLRPRER PRGCPCTGRA SSLARDSAAA 
ASDPGTIVHN FSRTEPRTEP AGGSHSGSSS KLQALFAHPL YNVPEEPPLL GAEDSLLASQ 
EALRYYRRKV ARWNRRHKMY REQMNLTSLD PPLQLRLEAS WVQFHLGINR HGLYSRSSPV 
VSKLLQDMRH FPTISADYSQ DEKALLGACD CTQIVKPSGV HLKLVLRFSD FGKAMFKPMR 
QQRDEETPVD FFYFIDFQRH NAEIAAFHLD RILDFRRVPP TVGRIVNVTK EILEVTKNEI 
LQSVFFVSPA SNVCFFAKCP YMCKTEYAVC GNPHLLEGSL SAFLPSLNLA PRLSVPNPWI 
RSYTLAGKEE WEVNPLYCDT VKQIYPYNNS QRLLNVIDMA IFDFLIGNMD RHHYEMFTKF 
GDDGFLIHLD NARGFGRHSH DEISILSPLS QCCMIKKKTL LHLQLLAQAD YRLSDVMRES 
LLEDQLSPVL TEPHLLALDR RLQTILRTVE GCIVAHGQQS VIVDGPVEQL APDSGQANLT 
S

Genular Protein ID: 2925942330

Symbol: Q8IYA5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IYA5

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 2 ChiTaRS 1 DNASU 1 EMBL 2 GO 2 Genevisible 1 GenomeRNAi 1 InterPro 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 2 SAM 1 SMR 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 247
  • Mass: 27997
  • Checksum: C970D1356B56A205
  • Sequence:
    • MYREQMNLTS LDPPLQLRLE ASWVQFHLGI NRHGLYSRSS PVVSKLLQDM RHFPTISADY 
SQDEKALLGA CDCTQIVKPS GVHLKLVLRF SDFGKAMFKP HEQRDEETPV DFFYFIDFQR 
HNAEIAAFHL DRILDFRRVP PTVGRIVNVT KEILEVTKNE ILQSVFFVSP ASNVCFFAKC 
PYMCKTEYAV CGNPHLLEGS LSAFLPSLNL APRLSVPNPW IRSYTLAGKE DPRTSSPPQV 
GGQSPLL

Genular Protein ID: 4110139195

Symbol: B7Z4Y3_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z4Y3

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 6 DNASU 1 EMBL 2 GO 3 Genevisible 1 GenomeRNAi 1 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 3 PeptideAtlas 1 Pfam 2 RefSeq 1

Sequence Information:

  • Length: 396
  • Mass: 45146
  • Checksum: F65671A24A13A4E4
  • Sequence:
    • MYREQMNLTS LDPPLQLRLE ASWVQFHLGI NRHGLYSRSS PVVSKLLQDM RHFPTISADY 
SQDEKALLGA CDCTQIVKPS GVHPKLVLRF SDFGKAMFKP MRQQRDEETP VDFFYFIDFQ 
RHNAEIAAFH LDRILDFRRV PPTVGRIVNV TKEILEVTKN EILQSVFFVS PASNVCFFAK 
CPYMCKTEYA VCGNPHLLEG SLSAFLPSLN LAPRLSVPNP WIRSYTLAGK EEWEVNPLYC 
DTVKQIYPYN NSQRLLNVID MAIFDFLIGN MDRHHYEMFT KFGDDGFLIH LDNARGFGRH 
SHDEISILSP LSQCCMIKKK TLLHLQLLAQ ADYRLSDVMR ESLLEDQLSP VLTEPHLQTI 
LRTVEGCIVA HGQQSVIVDG PVEQLAPDSG QANLTS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.