Gene
MED12
mediator complex subunit 12
- HGNC 11957↗(opens in a new tab)
- Ensembl gene ENSG00000184634↗(opens in a new tab)
- NCBI Gene 9968↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq13.1
- Coordinates
- Chromosome X: 71,118,596–71,142,450 (GRCh38)
- Exons
- 45 exons across 23.9 kb
- Protein
- 2,177 amino acids
- Also known as
- CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS, ARC240, Kto
- Previous symbols
- TNRC11, FGS1
- MANE Select transcript
- ENST00000374080.8NM_005120.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How MED12 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.9 kb of the gene's 23.9 kb; 6,534 of those bases code for the protein.
How a genome test reads MED12
51
positions in MED12 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 23.9 kb of MED12, introns included, not only the 6.9 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to MED12
The Human Phenotype Ontology lists these as features of the rare conditions MED12 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Bulbous nose
- Depressed nasal bridge
- Eye folds
- High palate
- Little lower jaw
- Long face
- Narrow face
- Narrow mouth
Show 60 more traits
- Narrow opening between the eyelids
- Short philtrum
- Sparse eyebrow
- Triangular face
- Wide nasal bridge
- Big calvaria
- Cleft of the mouth
- Dental crowding
- Downward slanting of the opening between the eyelids
- High forehead
- Pit in front of the ear
- Prominent forehead
- Skin tag in front of the ear
- Asymmetry of the posterior head
- Both sided cleft lip
- Broad neck
- Coarse facial features
- Decreased size of maxilla
- Decreased size of tooth
- Drooling
- Full lips
- Fused teeth
- Long philtrum
- Narrow nose
- Open mouth
- Prominent back of the head
- Prominent nasal bridge
- Prominent nose
- Relatively large head
- Right and left cleft palate
- Thick nasal alae
- Wide mouth
- Widely patent fontanelles and sutures
- Zygomatic flattening
- Abnormal dentition
- Blockage of the rear opening of the nasal cavity
- Broad head shape
- Cleft soft palate
- Deformity of the skull
- High frontal hairline
- Narrowing of the tear duct
- One sided cleft palate
- One sided cleft upper lip
- Short chin
- Thin red part of the upper lip
- Widely spaced teeth
- Cleft palate
- Cleft upper lip
- Decreased volume of lip
- Deep philtrum
- Delayed closure of the soft spot on the skull
- Frontal bossing
- Full lower lip
- Long nose
- Narrow nasal bridge
- Narrow palate
- Postnatal macrocephaly
- Short neck
- Smooth philtrum
- Wider-than-typical soft spot of skull
Abnormality of the digestive system
- Decreased liver function
- Intestinal malrotation
- Intrahepatic bile duct dilatation
- Jaundice
- Absent anus
- Feeding difficulties
- Abdominal pain
- Abnormal gallbladder structure
Show 28 more traits
- Abnormality of the biliary system
- Abnormality of the large intestine
- Constipation
- Cyst of the ductus choledochus
- Inguinal hernia
- Malrotation of colon
- Prolonged yellowing of skin in newborn
- Pyloric stenosis
- Slowed or blocked flow of bile from liver
- Acid reflux
- Bile duct inflammation
- Bile duct proliferation
- Bladder exstrophy
- Celiac disease
- Enlarged liver
- Enlarged vein in esophagus
- Gastric varix
- Hepatic fibrosis
- Intrahepatic bile duct cysts
- Liver failure
- Meckel diverticulum
- Portal inflammation
- Scar tissue replaces healthy tissue in the liver
- Stomach hernia
- Umbilical hernia
- Vomiting
- Anteriorly placed anus
- Narrowing of anal opening
Abnormality of the nervous system
- Delayed speech and language development
- Intellectual disability
- Abnormal speech pattern
- Behavioral abnormality
- Abnormality of the cerebellum
- Absent speech development
- Agenesis of corpus callosum
- Aplasia/Hypoplasia of the corpus callosum
Show 23 more traits
- Attention deficit
- Epilepsy
- Global developmental delay
- IQ between 34 and 49
- Ventriculomegaly
- Wide based walk
- Abnormal social behavior
- Autism
- Hallucinations
- Irritability
- Obsessive compulsive behavior
- Psychosis
- Schizophrenia
- Too much cerebrospinal fluid in the brain
- Aggressive behavior
- Can't control feelings
- Gray matter heterotopia
- High pitched voice
- Low frustration tolerance
- More active than typical
- Motor delay
- Partial agenesis of the corpus callosum
- Poor social interactions
Abnormality of limbs
- Broad big toe
- Broad thumb
- Broad toe
- Curvature of digit
- Dropped arches
- Finger joint hyperextensibility
- Limited elbow extension and supination
- Long slender fingers
Show 15 more traits
- Abnormality of the thumb
- Curvature of index finger
- Finger syndactyly
- Long thumb
- Overlapping toe
- Permanent flexion of the finger
- Short fingers or toes
- Short thumb
- Single transverse palmar crease
- Ulnar deviation of the hand
- Joint contracture of the hand
- Prominent fingertip pads
- Radial deviation of finger
- Split hand
- Webbed fingers or toes
Abnormality of the musculoskeletal system
- Double-Jointed
- Low muscle tone
- Scoliosis
- Abnormality of the sternum
- Decreased muscle tone in infant
- Funnel chest
- Generalized low muscle tone in neonate
- Hypermobility of all joints
Show 13 more traits
- Involuntary muscle stiffness, contraction, or spasm
- Abnormal formation of the hip
- Congenital diaphragmatic hernia
- Narrow chest
- Osteoporosis
- Progressive flexion contractures
- Thoracolumbar scoliosis
- Excessive inward curvature of lower spine
- Flexed joint that cannot be straightened
- Generalized decreased muscle tone
- Low muscle tone, in neonatal onset
- Multiple joint contractures
- Permanent flexion of the finger or toe
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Disease of the heart muscle
- Narrowing of aorta
- Patent ductus arteriosus
- Bulge in wall of large artery that carries blood away from heart
- Enlarged liver and spleen
- High blood pressure
- Hole in heart wall separating two lower heart chambers
Show 10 more traits
Abnormality of the eye
- Drooping upper eyelid
- Pigmentary retinopathy
- Abnormally small eyeball
- Cross-eyed
- Farsightedness
- Involuntary, rapid, rhythmic eye movements
- Optic nerve hypoplasia
- Wide-set eyes
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MED12 gene: mediator complex subunit 12. Retrieved 16 October 2026, from https://dantelabs.com/genes/med12
Dante Labs. MED12 gene: mediator complex subunit 12 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/med12
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