Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
found on the
X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-d ...
.
Clinical significance
Mutations in ''MED12'' are responsible for at least two different forms of
X-linked dominant
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. ...
mental retardation
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...
,
Lujan-Fryns syndrome and
FG syndrome
FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first pat ...
, as well as instances of prostate cancer.
Mutations in ''MED12'' are associated with uterine
leiomyomas and breast fibroepithelial tumors (e.g.
fibroadenoma
Fibroadenomas are benign breast tumours characterized by an admixture of stromal and epithelial tissue. Breasts are made of lobules (milk producing glands) and ducts (tubes that carry the milk to the nipple). These are surrounded by glandular, ...
and
phyllodes tumor
Phyllodes tumors (from Greek: ''phullon'' leaf), also cystosarcoma phyllodes, cystosarcoma phylloides and phylloides tumor, are typically large, fast-growing masses that form from the periductal stromal cells of the breast. They account for less th ...
s).
Interactions
MED12 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with:
*
Calcitriol receptor
The vitamin D receptor (VDR also known as the calcitriol receptor) is a member of the nuclear receptor family of transcription factors. Calcitriol (the active form of vitamin D, 1,25-(OH)2vitamin D3) binds to VDR, which then forms a heterodim ...
,
Cyclin-dependent kinase 8
Cell division protein kinase 8 is an enzyme that in humans is encoded by the ''CDK8'' gene.
Function
The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK8 and cyclin C associate with the mediato ...
[
* ]Estrogen receptor alpha
Estrogen receptor alpha (ERα), also known as NR3A1 (nuclear receptor subfamily 3, group A, member 1), is one of two main types of estrogen receptor, a nuclear receptor (mainly found as a chromatin-binding protein)
that is activated by the sex ...
,Gli3
Zinc finger protein GLI3 is a protein that in humans is encoded by the ''GLI3'' gene.
This gene encodes a protein that belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription f ...
, G9a
Euchromatic histone-lysine N-methyltransferase 2 (EHMT2), also known as G9a, is a histone methyltransferase enzyme that in humans is encoded by the ''EHMT2'' gene. G9a catalyzes the mono- and di-methylated states of histone H3 at lysine residue 9 ...
, PPARGC1A
Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α) is a protein that in humans is encoded by the ''PPARGC1A'' gene. PPARGC1A is also known as human accelerated region 20 ( HAR20). It may, therefore, have played a key ro ...
,MED26
Mediator of RNA polymerase II transcription subunit 26 is an enzyme that in humans is encoded by the ''MED26'' gene.
It forms part of the Mediator complex.
The activation of gene transcription is a multistep process that is triggered by factor ...
,SOX9
Transcription factor SOX-9 is a protein that in humans is encoded by the ''SOX9'' gene.
Function
SOX-9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It is expressed by proliferating but no ...
,Thyroid hormone receptor alpha
Thyroid hormone receptor alpha (TR-alpha) also known as nuclear receptor subfamily 1, group A, member 1 (NR1A1), is a nuclear receptor protein that in humans is encoded by the ''THRA'' gene.
Function
The protein encoded by this gene is a nucle ...
.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on MED12-Related Disorders