ENSG00000130449


Homo sapiens
zincionbindingcleftlipcorpuscallosumcystuppernosepolydactylyZSWIM6fingerswim-typemetalautosomaldominantinheritancecryptorchidismpalatebrachycephalyhypertelorismbroadnasaltipglaucomatelecanthusptosismyopiasyndactylymental

Features
Gene ID: ENSG00000130449
  
Biological name :ZSWIM6
  
Synonyms : Q9HCJ5 / zinc finger SWIM-type containing 6 / ZSWIM6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q12.1
Gene start: 61332273
Gene end: 61546170
  
Corresponding Affymetrix probe sets: 226208_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000252744
NCBI entrez gene - 57688     See in Manteia.
OMIM - 615951
RefSeq - NM_020928
RefSeq - XM_017009677
RefSeq Peptide - NP_065979
swissprot - Q9HCJ5
Ensembl - ENSG00000130449
  
Related genetic diseases (OMIM): 603671 - Acromelic frontonasal dysostosis, 603671
  617865 - Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865
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
 zswim6ENSDARG00000101282Danio rerio
 ENSGALG00000027170Gallus gallus
 ENSGALG00000014734Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9P217 / ZSWIM5 / zinc finger SWIM-type containing 5ENSG0000016241571
Q9H7M6 / ZSWIM4 / zinc finger SWIM-type containing 4ENSG0000013200353
A7E2V4 / ZSWIM8 / zinc finger SWIM-type containing 8ENSG0000021465526


Protein motifs (from Interpro)
Interpro ID Name
 IPR007527  Zinc finger, SWIM-type


Gene Ontology (GO)
ion bindingion bindingion bindingion bindingion bindingion bindingion bindingion bindingion bindingion bindingion bindingion binding
TypeGO IDTermEv.Code
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
Genitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary abnormalityHead and neck abnormalityAbnormality of the musculoskeletal systemAbnormality of the eyesAbnormality of limbsNeurological abnormalityIntegument abnormalityRespiratory abnormalityEndocrine abnormalityGenitourinary aGenitourinary abnormalityHead and neck aHead and neck abnormalityAbnormality of Abnormality of the musculoskeletal systemAbnormality of Abnormality of the eyesAbnormality of Abnormality of limbsNeurological abNeurological abnormalityIntegument abnoIntegument abnormalityRespiratory abnRespiratory abnormalityEndocrine abnorEndocrine abnormality
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: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: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:0000204 Cleft lip "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson]
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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:0000316 Hypertelorism 
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 HP:0000455 Broad nasal tip 
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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:0000506 Telecanthus "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000545 Myopia 
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 HP:0001159 Syndactyly "Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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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: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:0001762 Talipes equinovarus "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators]
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 HP:0001805 Thickened nails 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002084 Encephalocele 
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 HP:0002119 Ventriculomegaly 
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 HP:0002190 Choroid plexus cyst 
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 HP:0002435 Meningocele 
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 HP:0002690 Large sella turcica "An abnormal enlargement of the sella turcica." [HPO:curators]
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 HP:0002781 Upper airway obstruction 
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 HP:0004122 Midline defect of the nose "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:curators]
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 HP:0006951 Retrocerebellar cyst 
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 HP:0009928 Ala nasi, thick "Increase in bulk of the ala nasi." [pmid:19152422]
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 HP:0010442 Polydactyly 
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 HP:0010559 Vertical clivus "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators]
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 HP:0010806 U-Shaped upper lip vermilion "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [pmid:19125428]
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 HP:0011803 Bifid nose "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [pmid:19152422]
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 HP:0040075 Hypopituitarism 
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 HP:0100258 Preaxial polydactyly "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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