Seroatlas · Human Serome Atlas

MED12L

Mediator of RNA polymerase II transcription subunit 12-like protein

Also known as: KIAA1635, MD12L_HUMAN, TNRC11L, TRALP, TRALPUSH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86YW9
Gene: MED12L
Ensembl: ENSG00000144893
Chromosome: 3
Canonical length: 2145 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli

OverviewNCBI Gene

The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

2145 residues, UniProt reviewed canonical sequence.

>Q86YW9|MED12L
     1  MAAFGLLSYE QRPLKRPRLG PPDVYPQDPK QKEDELTAVN VKQGFNNQPA FTGDEHGSAR
    61  NIVINPSKIG AYFSSILAEK LKLNTFQDTG KKKPQVNAKD NYWLVTARSQ SAIHSWFSDL
   121  AGNKPLSILA KKVPILSKKE DVFAYLAKYS VPMVRATWLI KMTCAYYSAI SEAKIKKRQA
   181  PDPNLEWTQI STRYLREQLA KISDFYHMAS STGDGPVPVP PEVEQAMKQW EYNEKLAFHM
   241  FQEGMLEKHE YLTWILDVLE KIRPMDDDLL KLLLPLMLQY SDEFVQSAYL SRRLAYFCAR
   301  RLSLLLSDSP NLLAAHSPHM MIGPNNSSIG APSPGPPGPG MSPVQLAFSD FLSCAQHGPL
   361  VYGLSCMLQT VTLCCPSALV WNYSTNENKS ANPGSPLDLL QVAPSSLPMP GGNTAFNQQV
   421  RARIYEVEQQ IKQRGRAVEV RWSFDKCQES TAGVTISRVL HTLEVLDRHC FDRTDSSNSM
   481  ETLYHKIFWA NQNKDNQEVA PNDEAVVTLL CEWAVSCKRS GKHRAMAVAK LLEKRQAEIE
   541  AERCGESEVL DEKESISSSS LAGSSLPVFQ NVLLRFLDTQ APSLSDPNSE CEKVEFVNLV
   601  LLFCEFIRHD VFSHDAYMCT LISRGDLSVT ASTRPRSPVG ENADEHYSKD HDVKMEIFSP
   661  MPGESCENAN TSLGRRMSVN CEKLVKREKP RELIFPSNYD LLRHLQYATH FPIPLDESSS
   721  HECNQRTILL YGVGKERDEA RHQLKKITKD ILKILNKKST TETGVGDEGQ KARKNKQETF
   781  PTLETVFTKL QLLSYFDQHQ VTSQISNNVL EQITSFASGT SYHLPLAHHI QLIFDLMEPA
   841  LNINGLIDFA IQLLNELSVV EAELLLKSSS LAGSYTTGLC VCIVAVLRRY HSCLILNPDQ
   901  TAQVFEGLCG VVKHVVNPSE CSSPERCILA YLYDLYVSCS HLRSKFGDLF SSACSKVKQT
   961  IYNNVMPANS NLRWDPDFMM DFIENPSARS INYSMLGKIL SDNAANRYSF VCNTLMNVCM
  1021  GHQDAGRIND IANFSSELTA CCTVLSSEWL GVLKALCCSS NHVWGFNDVL CTVDVSDLSF
  1081  HDSLATFIAI LIARQCFSLE DVVQHVALPS LLAAACGDAD AEPGARMTCR LLLHLFRAPQ
  1141  ACFLPQATGK PFPGIRSSCD RHLLAAAHNS IEVGAVFAVL KAIMMLGDAK IGNNSVSSLK
  1201  NDDFTMRGLR CDGNADDIWT ASQNPKSCGK SISIETANLR EYARYVLRTI CQQEWVGEHC
  1261  LKEPERLCTD KELILDPVLS NMQAQKLLQL ICYPHGIKEC TEGDNLQRQH IKRILQNLEQ
  1321  WTLRQSWLEL QLMIKQCLKD PGSGSVAEMN NLLDNIAKAT IEVFQQSADL NNSSNSGMSL
  1381  FNPNSIGSAD TSSTRQNGIK TFLSSSERRG VWLVAPLIAR LPTSVQGRVL KAAGEELEKG
  1441  QHLGSSSKKE RDRQKQKSMS LLSQQPFLSL VLTCLKGQDE QREGLLTSLQ NQVNQILSNW
  1501  REERYQDDIK ARQMMHEALQ LRLNLVGGMF DTVQRSTQWT TDWALLLLQI ITSGTVDMHT
  1561  NNELFTTVLD MLGVLINGTL ASDLSNASPG GSEENKRAYM NLVKKLKKEL GDKRSESIDK
  1621  VRQLLPLPKQ TCDVITCEPM GSLIDTKGNK IAGFDSIDKK QGLQVSTKQK VSPWDLFEGQ
  1681  KNPAPLSWAW FGTVRVDRRV IKYEEQHHLL LYHTHPMPKP RSYYLQPLPL PPEEEEEEPT
  1741  SPVSQEPERK SAELSDQGKT TTDEEKKTKG RKRKTKSSSR VDEYPQSNIY RVPPNYSPIS
  1801  SQMMHHPQST LWGYNLVGQP QQPGFFLQNQ SLTPGGSRLD PAGSFVPTNT KQALSNMLQR
  1861  RSGAMMQPPS LHAITSQQQL IQMKLLQQQQ QQRLLRQAQT RPFQQGQPGD QAALFAAQAR
  1921  PSPQLPQYPG LQQAQTMPQG YTMYGTQMPL QQTSQQQAGS VVLSPSYNSR AYPAAHSNPV
  1981  LMERLRQIQQ QPSGYVQQQA SPYLQPLTGS QRLNHQALQQ SPLVGGGIDA VLTSAHPNLP
  2041  SVPLPQDPMR PRQPQVRQQQ RLLQMQQPQQ PQPQQPPQPQ QSSQSQSQTL GLQAMQPQQP
  2101  LFPRQGLQQT QQQQQTAALV RQLQKQLSSN QPQQGVTPYG HPSHF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MED12L 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): 0.4
Highest tissue expression: 3.8 nTPM

Expression across tissuesHPA

Tissue

testis: 3.8 nTPM
bone marrow: 3.6 nTPM
cerebral cortex: 3.5 nTPM
choroid plexus: 2.6 nTPM
retina: 2.6 nTPM
basal ganglia: 2 nTPM

Single-cell type

megakaryocyte progenitors: 2,142 nCPM
choroid plexus epithelial cells: 1,517 nCPM
megakaryocyte-erythroid progenitors: 1,069 nCPM
hematopoietic stem cells: 1,036 nCPM
pituitary stem cells: 499 nCPM
astrocytes: 471 nCPM

Immune cell

plasmacytoid DC: 1.8 nTPM
basophil: 1 nTPM
naive B-cell: 0.6 nTPM
MAIT T-cell: 0.2 nTPM
myeloid DC: 0.2 nTPM
intermediate monocyte: 0.1 nTPM

Brain region

choroid plexus: 69 nTPM
cerebral cortex: 32 nTPM
thalamus: 30 nTPM
basal ganglia: 26 nTPM
midbrain: 24 nTPM
white matter: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MED12L.

Disease | AllUniProt

Conditions MED12L is implicated in, by any mechanism.

Nizon-Isidor syndrome (NIZIDS) MIM:618872

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 567 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nizon-Isidor syndrome
Inborn genetic diseases
Intellectual disability
MED12L-associated neurodevelopmental 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): 0.18
gnomAD pLI: 1
gnomAD missense Z: 3.13
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

Molecular functions

Cellular components

mediator complex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MED12L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MED12L as an antibody target. Whether an autoantibody or antibody against MED12L could matter depends on whether native MED12L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MED12L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MED12L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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