Metazoan complexes |
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Details of MED12 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| MED12 | ARC240,CAGH45,HOPA,KIAA0192,TNRC11,TRAP230 | Q93074 | MED12_HUMAN | 9968 | ENSG00000184634 | Mediator of RNA polymerase II transcription subunit 12 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Opitz-Kaveggia syndrome (OKS) [MIM:305450]: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. Note=The disease is caused by mutations affecting the gene represented in this entry. | 305450 | Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]: Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root. Note=The disease is caused by mutations affecting the gene represented in this entry. | 309520 |
Phenotypes
Abdominal symptom, Abdominal wall defect, Abnormal aggressive, impulsive or violent behavior, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal dermatoglyphics, Abnormal emotion/affect behavior, Abnormal external genitalia, Abnormal facial shape, Abnormal fear/anxiety-related behavior, Abnormal hair pattern, Abnormal hair whorl, Abnormal internal genitalia, Abnormality of body height, Abnormality of calvarial morphology, Abnormality of cardiac atrium, Abnormality of cardiac ventricle, Abnormality of connective tissue, Abnormality of cranial sutures, Abnormality of facial skeleton, Abnormality of finger, Abnormality of fluid regulation, Abnormality of fontanelles, Abnormality of globe location, Abnormality of hair density, Abnormality of hair texture, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of lower lip, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of mouth shape, Abnormality of mouth size, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of neuronal migration, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the abdominal wall, Abnormality of the anterior fontanelle, Abnormality of the anus, Abnormality of the aorta, Abnormality of the atrial septum, Abnormality of the calvaria, Abnormality of the cardiac septa, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral ventricles, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the cervical spine, Abnormality of the choanae, Abnormality of the choroid, Abnormality of the corpus callosum, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the fingertips, Abnormality of the fontanelles and cranial sutures, Abnormality of the foot, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hallux, Abnormality of the hand, Abnormality of the hard palate, Abnormality of the head, Abnormality of the heart, Abnormality of the helix, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the intestine, Abnormality of the joints of the upper limbs, Abnormality of the larynx, Abnormality of the lip, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the maxilla, Abnormality of the midface, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nasal bridge, Abnormality of the nasopharynx, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the palm, Abnormality of the palmar creases, Abnormality of the palpebral fissures, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the pharynx, Abnormality of the philtrum, Abnormality of the pinna, Abnormality of the posterior segment of the eye, Abnormality of the pylorus, Abnormality of the respiratory system, Abnormality of the rib cage, Abnormality of the sacrum, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the sternum, Abnormality of the stomach, Abnormality of the systemic arterial tree, Abnormality of the teeth, Abnormality of the testis, Abnormality of the thorax, Abnormality of the umbilicus, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the uvea, Abnormality of the vasculature, Abnormality of the ventricular septum, Abnormality of the vertebral column, Abnormality of the voice, Abnormality of toe, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormal joint morphology, Abnormal location of ears, Abnormally folded helix, Abnormal muscle tone, Abnormal nasal morphology, Abnormal palmar dermatoglyphics, Abnormal shape of the frontal region, Agenesis of corpus callosum, Aggressive behavior, All, Anal atresia, Anal stenosis, Aneurysm, Anteriorly placed anus, Aortic aneurysm, Aortic dilatation, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the ear, Aplasia/Hypoplasia of the external ear, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the maxilla, Arachnodactyly, Ascending aortic aneurysm, Attention deficit hyperactivity disorder, Autism, Autism spectrum disorder, Behavioural/Psychiatric Abnormality, Broad hallux, Broad toe, Choanal atresia, Choroidal sclerosis, Cleft palate, Cleft upper lip, Cognitive impairment, Congenital abnormal hair pattern, Constipation, Contractures of the joints of the upper limbs, Cryptorchidism, Deep philtrum, Defect in the atrial septum, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Dental crowding, Deviation of finger, Deviation of the hand or of fingers of the hand, Dilatation of the ascending aorta, Displacement of the external urethral meatus, Disproportionate tall stature, Downslanted palpebral fissures, Dysplastic corpus callosum, Ectopic anus, Ectrodactyly, Ectrodactyly (hands), Edema, Emotional lability, Epicanthus, Facial wrinkling, Fine hair, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Functional abnormality of the inner ear, Generalized abnormality of skin, Generalized hypotonia, Global developmental delay, Gonosomal inheritance, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hernia, Hernia of the abdominal wall, Heterotopia, High palate, High pitched voice, Hydrocephalus, Hyperactivity, Hyperlordosis, Hypertelorism, Hypoplasia of the maxilla, Hypospadias, Impaired social interactions, Inguinal hernia, Intellectual disability, Intestinal malrotation, Joint contracture of the hand, Joint hypermobility, Joint laxity, Joint swelling, Joint swelling onset late infancy, Large fontanelles, Limb joint contracture, Localized skin lesion, Long face, Long fingers, Long nose, Long philtrum, Long toe, Low frustration tolerance, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malformation of the heart and great vessels, Micrognathia, Microtia, Microtia, first degree, Misalignment of teeth, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Multiple joint contractures, Muscular hypotonia, Narrow face, Narrow nasal bridge, Narrow palate, Nasal speech, Neonatal hypotonia, Obsessive-compulsive disorder, Open mouth, Oral cleft, Partial agenesis of the corpus callosum, Pectus excavatum, Phenotypic abnormality, Plagiocephaly, Postnatal macrocephaly, Prematurely aged appearance, Premature skin wrinkling, Prominent digit pad, Prominent fingertip pads, Prominent nose, Psychosis, Pyloric stenosis, Radial deviation of finger, Radial deviation of the hand or of fingers of the hand, Regional abnormality of skin, Sacral dimple, Sacrococcygeal pilonidal abnormality, Seizures, Sensorineural hearing impairment, Short attention span, Short neck, Short philtrum, Short stature, Single transverse palmar crease, Skin dimples, Skin tags, Slanting of the palpebral fissure, Slender finger, Sparse hair, Strabismus, Syndactyly, Tall stature, Thick lower lip vermilion, Thin lips, Thin upper lip vermilion, Thoracoabdominal wall defects, Umbilical hernia, Ventricular septal defect, Wide anterior fontanel, Wide mouth, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Med12 | kto | dpy-22 | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
MED12 | MED13L | 1 | MED12 | MED13L | cpx651 | yes | yes | no | Known |
MED20 | MED12 | 0.041069781 | MED20 | MED12 | cpx11 | yes | yes | yes | Known |
MED17 | MED12 | 0.235741856 | MED17 | MED12 | cpx11 | yes | yes | yes | Known |
MED16 | MED12 | 0.260574745 | MED16 | MED12 | cpx11 | yes | yes | yes | Known |
MED4 | MED12 | 0.185124513 | MED4 | MED12 | cpx11 | yes | yes | yes | Known |
MED18 | MED12 | 0.109946463 | MED18 | MED12 | cpx11 | yes | yes | yes | Known |
MED1 | MED12 | 0.278688544 | MED1 | MED12 | cpx11 | yes | yes | yes | Known |
MED14 | MED12 | 0.519934499 | MED14 | MED12 | cpx11 | yes | yes | yes | Known |
MED19 | MED12 | 0.073340202 | MED19 | MED12 | cpx11 | yes | yes | yes | Known |
MED8 | MED12 | 0.438132616 | MED8 | MED12 | cpx11 | yes | yes | yes | Known |
MED6 | MED12 | 0.13534813 | MED6 | MED12 | cpx11 | yes | yes | yes | Known |
MED27 | MED12 | 0.211684655 | MED27 | MED12 | cpx11 | yes | yes | yes | Known |
MED12 | MED13 | 0.5 | MED12 | MED13 | cpx11 | yes | yes | yes | Known |