TCF20

Protein identityUniProt · HPA

UniProt accession

Q9UGU0

Gene

TCF20

Ensembl

ENSG00000100207

Chromosome

22

Canonical length

1960 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Canonical amino-acid sequenceUniProt

1960 residues, UniProt reviewed canonical sequence.

>Q9UGU0|TCF20
     1  MQSFREQSSY HGNQQSYPQE VHGSSRLEEF SPRQAQMFQN FGGTGGSSGS SGSGSGGGRR
    61  GAAAAAAAMA SETSGHQGYQ GFRKEAGDFY YMAGNKDPVT TGTPQPPQRR PSGPVQSYGP
   121  PQGSSFGNQY GSEGHVGQFQ AQHSGLGGVS HYQQDYTGPF SPGSAQYQQQ ASSQQQQQQV
   181  QQLRQQLYQS HQPLPQATGQ PASSSSHLQP MQRPSTLPSS AAGYQLRVGQ FGQHYQSSAS
   241  SSSSSSFPSP QRFSQSGQSY DGSYNVNAGS QYEGHNVGSN AQAYGTQSNY SYQPQSMKNF
   301  EQAKIPQGTQ QGQQQQQPQQ QQHPSQHVMQ YTNAATKLPL QSQVGQYNQP EVPVRSPMQF
   361  HQNFSPISNP SPAASVVQSP SCSSTPSPLM QTGENLQCGQ GSVPMGSRNR ILQLMPQLSP
   421  TPSMMPSPNS HAAGFKGFGL EGVPEKRLTD PGLSSLSALS TQVANLPNTV QHMLLSDALT
   481  PQKKTSKRPS SSKKADSCTN SEGSSQPEEQ LKSPMAESLD GGCSSSSEDQ GERVRQLSGQ
   541  STSSDTTYKG GASEKAGSSP AQGAQNEPPR LNASPAAREE ATSPGAKDMP LSSDGNPKVN
   601  EKTVGVIVSR EAMTGRVEKP GGQDKGSQED DPAATQRPPS NGGAKETSHA SLPQPEPPGG
   661  GGSKGNKNGD NNSNHNGEGN GQSGHSAAGP GFTSRTEPSK SPGSLRYSYK DSFGSAVPRN
   721  VSGFPQYPTG QEKGDFTGHG ERKGRNEKFP SLLQEVLQGY HHHPDRRYSR STQEHQGMAG
   781  SLEGTTRPNV LVSQTNELAS RGLLNKSIGS LLENPHWGPW ERKSSSTAPE MKQINLTDYP
   841  IPRKFEIEPQ SSAHEPGGSL SERRSVICDI SPLRQIVRDP GAHSLGHMSA DTRIGRNDRL
   901  NPTLSQSVIL PGGLVSMETK LKSQSGQIKE EDFEQSKSQA SFNNKKSGDH CHPPSIKHES
   961  YRGNASPGAA THDSLSDYGP QDSRPTPMRR VPGRVGGREG MRGRSPSQYH DFAEKLKMSP
  1021  GRSRGPGGDP HHMNPHMTFS ERANRSSLHT PFSPNSETLA SAYHANTRAH AYGDPNAGLN
  1081  SQLHYKRQMY QQQPEEYKDW SSGSAQGVIA AAQHRQEGPR KSPRQQQFLD RVRSPLKNDK
  1141  DGMMYGPPVG TYHDPSAQEA GRCLMSSDGL PNKGMELKHG SQKLQESCWD LSRQTSPAKS
  1201  SGPPGMSSQK RYGPPHETDG HGLAEATQSS KPGSVMLRLP GQEDHSSQNP LIMRRRVRSF
  1261  ISPIPSKRQS QDVKNSSTED KGRLLHSSKE GADKAFNSYA HLSHSQDIKS IPKRDSSKDL
  1321  PSPDSRNCPA VTLTSPAKTK ILPPRKGRGL KLEAIVQKIT SPNIRRSASS NSAEAGGDTV
  1381  TLDDILSLKS GPPEGGSVAV QDADIEKRKG EVASDLVSPA NQELHVEKPL PRSSEEWRGS
  1441  VDDKVKTETH AETVTAGKEP PGAMTSTTSQ KPGSNQGRPD GSLGGTAPLI FPDSKNVPPV
  1501  GILAPEANPK AEEKENDTVT ISPKQEGFPP KGYFPSGKKK GRPIGSVNKQ KKQQQPPPPP
  1561  PQPPQIPEGS ADGEPKPKKQ RQRRERRKPG AQPRKRKTKQ AVPIVEPQEP EIKLKYATQP
  1621  LDKTDAKNKS FYPYIHVVNK CELGAVCTII NAEEEEQTKL VRGRKGQRSL TPPPSSTESK
  1681  ALPASSFMLQ GPVVTESSVM GHLVCCLCGK WASYRNMGDL FGPFYPQDYA ATLPKNPPPK
  1741  RATEMQSKVK VRHKSASNGS KTDTEEEEEQ QQQQKEQRSL AAHPRFKRRH RSEDCGGGPR
  1801  SLSRGLPCKK AATEGSSEKT VLDSKPSVPT TSEGGPELEL QIPELPLDSN EFWVHEGCIL
  1861  WANGIYLVCG RLYGLQEALE IAREMKCSHC QEAGATLGCY NKGCSFRYHY PCAIDADCLL
  1921  HEENFSVRCP KHKPPLPCPL PPLQNKTAKG SLSTEQSERG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCF20 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.63

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCF20.

Disease | AllUniProt

Conditions TCF20 is implicated in, by any mechanism.

• Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) MIM:618430

Disease | GeneticClinVar

145 pathogenic / likely-pathogenic of 1,314 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental delay with variable intellectual impairment and behavioral abnormalities
• Neurodevelopmental abnormality
• Inborn genetic diseases
• Neurodevelopmental delay
• TCF20-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.1

gnomAD pLI

1

gnomAD missense Z

0.09

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA binding
• RNA binding
• zinc ion binding

Cellular components

• nuclear body
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger, PHD-type
• Zinc finger, RING/FYVE/PHD-type
• Extended PHD (ePHD) domain
• Transcriptional Regulator and Chromatin Remodeler
• PHD-like zinc-binding domain
• Transcription factor 20, ePHD domain

KeywordsUniProt

• Acetylation
• Activator
• DNA-binding
• Intellectual disability
• Isopeptide bond
• Metal-binding
• Methylation
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Ubl conjugation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of TCF20 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• JUN
• RNF4
• TOPBP1