Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57688
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger SWIM-type containing 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZSWIM6
Synonyms (NCBI Gene) Gene synonyms aliases
AFND, NEDMAGA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AFND, NEDMAGA
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acrome
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777695 C>T Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs1554041295 C>T Pathogenic Coding sequence variant, stop gained
rs1554041457 A>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016083 hsa-miR-374b-5p Sequencing 20371350
MIRT050654 hsa-miR-18a-5p CLASH 23622248
MIRT042841 hsa-miR-324-3p CLASH 23622248
MIRT037981 hsa-miR-502-3p CLASH 23622248
MIRT096831 hsa-miR-6074 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0008270 Function Zinc ion binding IEA
GO:0021773 Process Striatal medium spiny neuron differentiation ISS
GO:0031462 Component Cul2-RING ubiquitin ligase complex IBA 21873635
GO:1902667 Process Regulation of axon guidance IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615951 29316 ENSG00000130449
Protein
UniProt ID Q9HCJ5
Protein name Zinc finger SWIM domain-containing protein 6
Protein function involved in nervous system development, important for striatal morphology and motor regulation.
Family and domains
Sequence
MAERGQQPPPAKRLCCRPGGGGGGGGSSGGGGGAGGGYSSACRPGPRAGGAAAAAACGGG
AALGLLPPGKTQSPESLLDIAARRVAEKWPFQRVEERFERIPEPVQRRIVYWSFPRSERE
ICMYSSFNTGGGAAGGPGDDSGGGGGAGGGGGGGSSSSPAATSAAATSAAAAAAAAAAAA
AAAAGAGAPSVGAAGAADGGDETRLPFRRGIALLESGCVDNVLQVGFHLSGTVTEPAIQS
EPETVCNVAISFDRCKITSVTCSCGNKDIFYCAHVVALSLYRIRKPDQVKLHLPISETLF
QMNRDQLQKFVQYLITVHHTEVLPTAQKLADEILSQNSEINQVHGAPDPTAGASIDDENC
WHLDEEQVQEQVKLFLSQGGYHGSGKQLNLLFAKVREMLKMRDSNGARMLTLITEQFMAD
PRLSLWRQQGTAMTDKYRQLWDELGALWMCIVLNPHCKLEQKASWLKQLKKWNSVDVCPW
EDGNHGSELPNLTNALPQGANANQDSSNRPHRTVFTRAIEACDLHWQDSHLQHIISSDLY
TNYCYHDDTENSLFDSRGWPLWHEHVPTACARVDALRSHGYPREALRLAIAIVNTLRRQQ
QKQLEMFRTQKKELPHKNITSITNLEGWVGHPLDPVGTLFSSLMEACRIDDENLSGFSDF
TENMGQCKSLEYQHLPAHKFLEEGESYLTLAVEVALIGLGQQRIMPDGLYTQEKVCRNEE
QLISKLQEIELDDTLVKIFRKQAVFLLEAGPYSGLGEIIHRESVPMHTFAKYLFTSLLPH
DAELAYKIALRAMRLLVLESTAPSGDLTRPHHIASVVPNRYPRWFTLSHIESQQCELAST
MLTAAKGDVRRLETVLESIQKNIHSSSHIFKLAQDAFKIATLMDSLPDITLLKVSLELGL
QVMRMTLSTLNWRRREMVRWLVTCATEVGVYALDSIMQTWFTLFTPTEATSIVATTVMSN
STIVRLHLDCHQQEKLASSARTLALQCAMKDPQNCALSALTLCEKDHIAFETAYQIVLDA
ATTGMSYTQLFTIARYMEHRGYPMRAYKLATLAMTHLNLSYNQDTHPAINDVLWACALSH
SLGKNELAAIIPLVVKSVKCATVLSDILRRCTLTTPGMVGLHGRRNSGKLMSLDKAPLRQ
LLDATIGAYINTTHSRLTHISPRHYSEFIEFLSKARETFLMAHDGHIQFTQFIDNLKQIY
KGKKKLMMLVRERFG
Sequence length 1215
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Acromelic frontonasal dysostosis Acromelic frontonasal dysplasia, ACROMELIC FRONTONASAL DYSOSTOSIS rs587777695 25105228, 26706854
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acromelic Frontonasal Dysostosis Associate 26706854, 29198722
Dental Caries Inhibit 23363935
Intellectual Disability Associate 29198722
Neurocognitive Disorders Associate 29198722
Scleroderma Systemic Associate 39727004
Spondylitis Ankylosing Associate 39727004
Squamous Cell Carcinoma of Head and Neck Associate 38246918