ENSG00000204852


Homo sapiens

Features
Gene ID: ENSG00000204852
  
Biological name :TCTN1
  
Synonyms : Q2MV58 / TCTN1 / tectonic family member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q24.11
Gene start: 110614027
Gene end: 110649430
  
Corresponding Affymetrix probe sets: 1556864_at (Human Genome U133 Plus 2.0 Array)   218584_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473789
Ensembl peptide - ENSP00000473743
Ensembl peptide - ENSP00000473903
Ensembl peptide - ENSP00000484255
Ensembl peptide - ENSP00000474525
Ensembl peptide - ENSP00000474343
Ensembl peptide - ENSP00000474291
Ensembl peptide - ENSP00000474208
Ensembl peptide - ENSP00000366882
Ensembl peptide - ENSP00000380775
Ensembl peptide - ENSP00000380776
Ensembl peptide - ENSP00000380779
Ensembl peptide - ENSP00000435027
Ensembl peptide - ENSP00000436044
Ensembl peptide - ENSP00000436673
Ensembl peptide - ENSP00000437196
Ensembl peptide - ENSP00000448188
Ensembl peptide - ENSP00000448735
Ensembl peptide - ENSP00000450154
NCBI entrez gene - 79600     See in Manteia.
OMIM - 609863
RefSeq - XM_017019969
RefSeq - NM_001319681
RefSeq - NM_001319682
RefSeq - NM_024549
RefSeq - XM_005253934
RefSeq - XM_005253935
RefSeq - XM_006719594
RefSeq - XM_006719595
RefSeq - XM_006719596
RefSeq - XM_006719597
RefSeq - XM_006719598
RefSeq - XM_006719599
RefSeq - XM_006719600
RefSeq - XM_011538733
RefSeq - XM_011538734
RefSeq - XM_011538735
RefSeq - XM_011538737
RefSeq - XM_011538738
RefSeq - XM_017019964
RefSeq - XM_017019965
RefSeq - XM_017019966
RefSeq - XM_017019967
RefSeq - XM_017019968
RefSeq - NM_001082537
RefSeq - NM_001082538
RefSeq - NM_001173975
RefSeq - NM_001173976
RefSeq - NM_001319680
RefSeq Peptide - NP_001306611
RefSeq Peptide - NP_078825
RefSeq Peptide - NP_001076006
RefSeq Peptide - NP_001076007
RefSeq Peptide - NP_001167446
RefSeq Peptide - NP_001167447
RefSeq Peptide - NP_001306609
RefSeq Peptide - NP_001306610
swissprot - Q2MV58
swissprot - E9PR69
swissprot - S4R339
swissprot - S4R3G2
swissprot - S4R3M8
swissprot - A0A087X1J4
swissprot - S4R2Y1
swissprot - E9PNE4
swissprot - E9PIB8
swissprot - B4DIB9
swissprot - A0A0A0MRU7
swissprot - F8VQ12
swissprot - F8VSB8
swissprot - J3KPW2
Ensembl - ENSG00000204852
  
Related genetic diseases (OMIM): 614173 - Joubert syndrome 13, 614173
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
 tctn1ENSDARG00000078447Danio rerio
 TCTN1ENSGALG00000041861Gallus gallus
 Tctn1ENSMUSG00000038593Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TCTN3 / Q6NUS6 / tectonic family member 3ENSG0000011997729


Protein motifs (from Interpro)
Interpro ID Name
 IPR011677  Domain of unknown function DUF1619


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001841 neural tube formation IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008589 regulation of smoothened signaling pathway IEA
 biological_processGO:0021523 somatic motor neuron differentiation IEA
 biological_processGO:0021537 telencephalon development IEA
 biological_processGO:0021904 dorsal/ventral neural tube patterning IEA
 biological_processGO:0021956 central nervous system interneuron axonogenesis IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0060271 cilium assembly ISS
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 biological_processGO:1904491 protein localization to ciliary transition zone IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0035869 ciliary transition zone IEA
 cellular_componentGO:0036038 MKS complex ISS
 cellular_componentGO:0042995 cell projection IEA


Pathways (from Reactome)
Pathway description
Anchoring of the basal body to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000202 Cleft lip/palate 
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 HP:0000238 Hydrocephalus 
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 HP:0000276 Long face 
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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:0000426 Prominent nasal bridge 
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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: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:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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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:0000657 Oculomotor apraxia 
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 HP:0000864 Abnormality of the hypothalamus-pituitary axis 
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 HP:0001161 Polydactyly (hands) 
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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:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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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:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0001829 Polydactyly (feet) 
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 HP:0002084 Encephalocele 
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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:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002251 Congenital megacolon "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators]
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 HP:0002419 Molar tooth sign on MRI 
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 HP:0002553 Arched eyebrows 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002876 Tachypnea, episodic 
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 HP:0003312 Abnormal form of the vertebral bodies 
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 HP:0004422 Biparietal narrowing "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators]
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 HP:0007370 Aplasia/Hypoplasia of the corpus callosum "Absence or underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0008872 Feeding problems in infancy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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