ENSG00000108055


Homo sapiens

Features
Gene ID: ENSG00000108055
  
Biological name :SMC3
  
Synonyms : Q9UQE7 / SMC3 / structural maintenance of chromosomes 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q25.2
Gene start: 110567691
Gene end: 110604636
  
Corresponding Affymetrix probe sets: 1556925_at (Human Genome U133 Plus 2.0 Array)   209257_s_at (Human Genome U133 Plus 2.0 Array)   209258_s_at (Human Genome U133 Plus 2.0 Array)   209259_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354720
NCBI entrez gene - 9126     See in Manteia.
OMIM - 606062
RefSeq - NM_005445
RefSeq Peptide - NP_005436
swissprot - Q9UQE7
Ensembl - ENSG00000108055
  
Related genetic diseases (OMIM): 610759 - Cornelia de Lange syndrome 3, 610759
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smc3ENSDARG00000019000Danio rerio
 SMC3ENSGALG00000008585Gallus gallus
 Smc3ENSMUSG00000024974Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003395  RecF/RecN/SMC, N-terminal
 IPR010935  SMCs flexible hinge
 IPR024704  Structural maintenance of chromosomes protein
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036277  SMCs flexible hinge superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000278 mitotic cell cycle TAS
 biological_processGO:0006275 regulation of DNA replication IMP
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007062 sister chromatid cohesion IMP
 biological_processGO:0019827 stem cell population maintenance IEA
 biological_processGO:0032876 negative regulation of DNA endoreduplication IMP
 biological_processGO:0044791 positive regulation by host of viral release from host cell IDA
 biological_processGO:0051276 chromosome organization IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051321 meiotic cell cycle IEA
 biological_processGO:0051702 interaction with symbiont IDA
 biological_processGO:1901673 regulation of mitotic spindle assembly IMP
 cellular_componentGO:0000775 chromosome, centromeric region TAS
 cellular_componentGO:0000785 chromatin IDA
 cellular_componentGO:0000800 lateral element IEA
 cellular_componentGO:0005604 basement membrane TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0008278 cohesin complex IEA
 cellular_componentGO:0016363 nuclear matrix IDA
 cellular_componentGO:0030893 meiotic cohesin complex IEA
 cellular_componentGO:0034991 nuclear meiotic cohesin complex IEA
 cellular_componentGO:0097431 mitotic spindle pole IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003777 microtubule motor activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0036033 mediator complex binding IEA
 molecular_functionGO:0044877 protein-containing complex binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0048487 beta-tubulin binding IDA
 molecular_functionGO:0070840 dynein complex binding IDA


Pathways (from Reactome)
Pathway description
Meiotic synapsis
Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000003 Multicystic kidney "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators]
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 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000059 Hypoplastic labia majora 
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000130 Abnormality of the uterus "An abnormality of the uterus (womb)." [HPO:curators]
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 HP:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000219 Thin upper lip 
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 HP:0000233 Thin vermillion border 
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 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000294 Low frontal hairline "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators]
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 HP:0000343 Long philtrum 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000368 Low-set, posteriorly rotated ears 
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 HP:0000400 Large ears 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000413 External auditory canal atresia "Absence or failure to form of the external auditory canal." [HPO:curators]
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 HP:0000414 Bulbous nose 
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 HP:0000426 Prominent nasal bridge 
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 HP:0000453 Choanal atresia "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators]
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000470 Short neck 
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 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000498 Blepharitis "Inflammation of the eyelids." [HPO:curators]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000527 Long eyelashes "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427]
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 HP:0000545 Myopia 
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 HP:0000574 Thick eyebrows 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000664 Synophrys "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson]
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 HP:0000667 Phthisis bulbi "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:curators]
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000687 Widely spaced teeth 
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 HP:0000717 Autism 
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 HP:0000722 Obsessive-compulsive disorder 
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 HP:0000739 Anxiety 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000776 Diaphragmatic hernia "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators]
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 HP:0000786 Primary amenorrhea 
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 HP:0000823 Delayed puberty 
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 HP:0000965 Cutis marmorata 
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 HP:0001007 Hirsutism "Abnormally increased hair growth." [HPO:curators]
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 HP:0001156 Brachydactyly 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001385 Hip dysplasia 
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 HP:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001557 Prenatal movement abnormality 
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 HP:0001622 Premature birth 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001642 Pulmonic stenosis "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators]
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 HP:0001671 Abnormality of the cardiac septa 
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001773 Short, broad feet "Abnormally short and wide feet." [HPO:curators]
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 HP:0001883 Talipes 
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 HP:0001956 Truncal obesity "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators]
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002021 Pyloric stenosis 
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 HP:0002119 Ventriculomegaly 
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002162 Low posterior hairline 
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 HP:0002167 Neurological speech impairment 
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 HP:0002230 Generalized hirsutism "Abnormally increased hair growth over much of the entire body." [HPO:curators]
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002465 Poor speech 
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 HP:0002553 Arched eyebrows 
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 HP:0002557 Hypoplastic nipples 
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 HP:0002566 Intestinal malrotation "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators]
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 HP:0002580 Volvulus 
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 HP:0002714 Downturned corners of mouth "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson]
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002827 Dislocated hips 
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 HP:0002974 Radioulnar synostosis "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators]
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 HP:0002983 Micromelia 
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 HP:0002996 Limited elbow movement 
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 HP:0003042 Elbow dislocation "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators]
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0003812 Phenotypic variability 
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0007018 Attention deficit hyperactivity disorder "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
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 HP:0007360 Aplasia/Hypoplasia of the cerebellum 
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 HP:0007598 Bilateral single palmar creases 
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 HP:0007665 Curly eyelashes "Abnormally curly or curved eyelashes." [HPO:curators]
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 HP:0008736 Hypoplasia of penis 
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 HP:0008850 Postnatal growth retardation, severe 
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 HP:0008872 Feeding problems in infancy 
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 HP:0009623 Proximally placed thumb "Proximally displaced thumb." [HPO:curators]
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 HP:0009830 Peripheral neuropathy "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators]
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 HP:0010034 Hypoplastic/short 1st metacarpal "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
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 HP:0010300 Abnormally low-pitched voice "An abnormally low-pitched voice." [HPO:curators]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0010880 Increased nuchal translucency "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)." [HPO:probinson, pmid:12751779]
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 HP:0012165 Oligodactyly "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0100874 Thick hair "Increased density of `hairs` (FMA:53667), i.e., and elevanted number of hairs per unit area." [HPO:probinson]
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 HP:0200055 Small hands 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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