• Gene id: 57688

Gene Summary

• Gene Symbol: ZSWIM6   Gene   UCSC   Ensembl
• Aliases: AFND, NEDMAGA
• Gene name: zinc finger SWIM-type containing 6
• Alternate names: zinc finger SWIM domain-containing protein 6, zinc finger, SWIM domain containing 6,
• Gene location: 5q12.1 (61332257: 61546171)     Exons: 16     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 616825

Protein Summary

• Protein general information: Q9HCJ5  
  • Name: Zinc finger SWIM domain containing protein 6
  • Length: 1215  
  • Mass: 133470
• Sequence:

  MAERGQQPPPAKRLCCRPGGGGGGGGSSGGGGGAGGGYSSACRPGPRAGGAAAAAACGGGAALGLLPPGKTQSPE
  SLLDIAARRVAEKWPFQRVEERFERIPEPVQRRIVYWSFPRSEREICMYSSFNTGGGAAGGPGDDSGGGGGAGGG
  GGGGSSSSPAATSAAATSAAAAAAAAAAAAAAAAGAGAPSVGAAGAADGGDETRLPFRRGIALLESGCVDNVLQV
  GFHLSGTVTEPAIQSEPETVCNVAISFDRCKITSVTCSCGNKDIFYCAHVVALSLYRIRKPDQVKLHLPISETLF
  QMNRDQLQKFVQYLITVHHTEVLPTAQKLADEILSQNSEINQVHGAPDPTAGASIDDENCWHLDEEQVQEQVKLF
  LSQGGYHGSGKQLNLLFAKVREMLKMRDSNGARMLTLITEQFMADPRLSLWRQQGTAMTDKYRQLWDELGALWMC
  IVLNPHCKLEQKASWLKQLKKWNSVDVCPWEDGNHGSELPNLTNALPQGANANQDSSNRPHRTVFTRAIEACDLH
  WQDSHLQHIISSDLYTNYCYHDDTENSLFDSRGWPLWHEHVPTACARVDALRSHGYPREALRLAIAIVNTLRRQQ
  QKQLEMFRTQKKELPHKNITSITNLEGWVGHPLDPVGTLFSSLMEACRIDDENLSGFSDFTENMGQCKSLEYQHL
  PAHKFLEEGESYLTLAVEVALIGLGQQRIMPDGLYTQEKVCRNEEQLISKLQEIELDDTLVKIFRKQAVFLLEAG
  PYSGLGEIIHRESVPMHTFAKYLFTSLLPHDAELAYKIALRAMRLLVLESTAPSGDLTRPHHIASVVPNRYPRWF
  TLSHIESQQCELASTMLTAAKGDVRRLETVLESIQKNIHSSSHIFKLAQDAFKIATLMDSLPDITLLKVSLELGL
  QVMRMTLSTLNWRRREMVRWLVTCATEVGVYALDSIMQTWFTLFTPTEATSIVATTVMSNSTIVRLHLDCHQQEK
  LASSARTLALQCAMKDPQNCALSALTLCEKDHIAFETAYQIVLDAATTGMSYTQLFTIARYMEHRGYPMRAYKLA
  TLAMTHLNLSYNQDTHPAINDVLWACALSHSLGKNELAAIIPLVVKSVKCATVLSDILRRCTLTTPGMVGLHGRR
  NSGKLMSLDKAPLRQLLDATIGAYINTTHSRLTHISPRHYSEFIEFLSKARETFLMAHDGHIQFTQFIDNLKQIY
  KGKKKLMMLVRERFG

• Structural information:
  • Interpro: IPR007527  
  • Prosite: PS50966
  • STRING: ENSP00000252744
• Other Databases: GeneCards:  ZSWIM6  Malacards:  ZSWIM6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902667	regulation of axon guidance	IBA	biological process
GO:0031462	Cul2-RING ubiquitin ligase complex	IBA	cellular component
GO:0021773	striatal medium spiny neuron differentiation	ISS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:2001222	regulation of neuron migration	IEA	biological process
GO:0021773	striatal medium spiny neuron differentiation	IEA	biological process

Diseases

Associated diseases	References
Acromelic frontonasal dysostosis	KEGG:H02210
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	KEGG:H02397
Acromelic frontonasal dysostosis	KEGG:H02210
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	KEGG:H02397
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq