Gene Gene information from NCBI Gene database.
Entrez ID 57688
Gene name Zinc finger SWIM-type containing 6
Gene symbol ZSWIM6
Synonyms (NCBI Gene)
AFNDNEDMAGA
Chromosome 5
Chromosome location 5q12.1
Summary 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.
3
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.
402
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0007399 Process Nervous system development IEA
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
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615951 29316 ENSG00000130449
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
127
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acromelic frontonasal dysostosis Likely pathogenic; Pathogenic rs587777695 RCV000143865
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Likely pathogenic; Pathogenic rs1554041295 RCV000578491
ZSWIM6 related intellectual disability Likely pathogenic; Pathogenic rs1554041295 RCV000590997
ZSWIM6-related disorder Likely pathogenic; Pathogenic rs1554041295 RCV003403147
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs149146685 RCV005917839
Cervical cancer Likely benign rs149146685 RCV005917841
Familial cancer of breast Likely benign rs149146685 RCV005917838
Intellectual disability Uncertain significance rs748121822 RCV001256034
Associations from Text MiningDisease associations identified through Pubtator
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