ENSG00000008441


Homo sapiens

Features
Gene ID: ENSG00000008441
  
Biological name :NFIX
  
Synonyms : NFIX / nuclear factor I X / Q14938
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.13
Gene start: 12995608
Gene end: 13098796
  
Corresponding Affymetrix probe sets: 209807_s_at (Human Genome U133 Plus 2.0 Array)   227400_at (Human Genome U133 Plus 2.0 Array)   228278_at (Human Genome U133 Plus 2.0 Array)   229834_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467785
Ensembl peptide - ENSP00000467536
Ensembl peptide - ENSP00000468707
Ensembl peptide - ENSP00000468794
Ensembl peptide - ENSP00000351354
Ensembl peptide - ENSP00000353219
Ensembl peptide - ENSP00000380781
Ensembl peptide - ENSP00000465094
Ensembl peptide - ENSP00000465616
Ensembl peptide - ENSP00000466389
Ensembl peptide - ENSP00000466605
Ensembl peptide - ENSP00000466735
Ensembl peptide - ENSP00000467512
NCBI entrez gene - 4784     See in Manteia.
OMIM - 164005
RefSeq - XM_017026837
RefSeq - NM_001271043
RefSeq - NM_001271044
RefSeq - NM_002501
RefSeq - XM_005259917
RefSeq - XM_005259918
RefSeq - XM_005259919
RefSeq - XM_005259920
RefSeq - XM_006722760
RefSeq - XM_011528040
RefSeq Peptide - NP_001257972
RefSeq Peptide - NP_002492
RefSeq Peptide - NP_001257973
swissprot - K7EKH0
swissprot - K7EMQ5
swissprot - K7EN08
swissprot - K7EPU2
swissprot - K7ESG9
swissprot - C9JWJ8
swissprot - Q14938
swissprot - D2DXM9
swissprot - K7EJB0
Ensembl - ENSG00000008441
  
Related genetic diseases (OMIM): 602535 - Marshall-Smith syndrome, 602535
  614753 - Sotos syndrome 2, 614753

This gene has been taged as a transcription factor by TFT
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
 nfixaENSDARG00000043226Danio rerio
 nfixbENSDARG00000061836Danio rerio
 NfixENSMUSG00000001911Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NFIA / Q12857 / nuclear factor I AENSG0000016259971
NFIB / O00712 / nuclear factor I BENSG0000014786258
NFIC / P08651 / nuclear factor I CENSG0000014190556


Protein motifs (from Interpro)
Interpro ID Name
 IPR000647  CTF transcription factor/nuclear factor 1
 IPR003619  MAD homology 1, Dwarfin-type
 IPR019548  CTF transcription factor/nuclear factor 1, N-terminal
 IPR019739  CTF transcription factor/nuclear factor 1, conserved site
 IPR020604  CTF transcription factor/nuclear factor 1, DNA-binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006260 DNA replication IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
RNA Polymerase III Transcription Termination
RNA Polymerase III Abortive And Retractive Initiation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000098 Increased body height 
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000162 Glossoptosis 
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 HP:0000194 Open mouth 
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 HP:0000212 Gingival hyperplasia 
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 HP:0000232 Everted lower lip 
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000275 Narrow face 
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 HP:0000276 Long face 
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 HP:0000278 Retrognathia 
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 HP:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000322 Short philtrum 
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 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000396 Overfolded helices "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators]
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 HP:0000405 Hearing loss, conductive 
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 HP:0000452 Choanal stenosis "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators]
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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:0000483 Astigmatism 
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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:0000494 Downward slanting palpebral fissures 
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 HP:0000520 Proptosis 
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 HP:0000540 Hypermetropia 
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 HP:0000574 Thick eyebrows 
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 HP:0000586 Shallow orbits 
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 HP:0000592 Blue sclerae 
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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:0000648 Optic atrophy 
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 HP:0000664 Synophrys "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson]
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 HP:0000739 Anxiety 
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 HP:0000750 Impaired language development 
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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:0000879 Short sternum 
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 HP:0000963 Thin skin 
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 HP:0000965 Cutis marmorata 
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 HP:0000978 Ecchymoses 
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 HP:0001249 Mental retardation 
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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:0001270 Motor retardation 
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001321 Cerebellar hypoplasia 
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 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001539 Omphalocele 
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 HP:0001548 Overgrowth 
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 HP:0001601 Laryngomalacia 
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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:0001643 Patent ductus arteriosus 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002100 Aspiration pneumonia 
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 HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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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:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002659 Increased susceptibility to fractures "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken]
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 HP:0002673 Coxa valga "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators]
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 HP:0002870 Obstructive sleep apnea "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:curators]
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 HP:0003100 Thin long bones 
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0003311 Hypoplastic odontoid process 
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 HP:0003414 Atlantoaxial dislocation "Partial dislocation of the atlantoaxial joint." [HPO:curators]
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 HP:0003745 Sporadic 
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 HP:0003778 Short mandibular rami 
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 HP:0003819 Death in childhood 
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 HP:0004325 Decreased body weight 
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 HP:0004349 Reduced bone mineral density "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators]
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005616 Accelerated skeletal maturation "An abnormally increased rate of skeletal maturation. Accelerated 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:0005692 Joint hyperflexibility 
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 HP:0006048 Distal widening of metacarpals "Abnormal increase in width of the distal region of the metacarpal bones." [HPO:curators]
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 HP:0006288 Premature eruption of teeth 
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 HP:0006487 Bowing of the long bones 
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 HP:0006642 Large sternal ossification centers 
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 HP:0007227 Brain macrogyria and polymicrogyria 
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 HP:0009845 Bullet-shaped middle phalanges of the hand 
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 HP:0009882 Hypoplasia of the distal phalanges of the hand 
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 HP:0010759 Prominent premaxilla "Prominent aspect of the `premaxilla` (FMA:76869)." [HPO:sdoelken]
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 HP:0010808 Protruding tongue "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
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 HP:0012472 Eclabion "A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson]
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
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 HP:0040079 Irregular dentition 
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 HP:0100807 Long fingers "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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