Human Gene ZSWIM6 (ENST00000252744.6) from GENCODE V44
  Description: Homo sapiens zinc finger SWIM-type containing 6 (ZSWIM6), mRNA. (from RefSeq NM_020928)
RefSeq Summary (NM_020928): 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 acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by orthologous and paralogous data.
Gencode Transcript: ENST00000252744.6
Gencode Gene: ENSG00000130449.6
Transcript (Including UTRs)
   Position: hg38 chr5:61,332,258-61,546,172 Size: 213,915 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr5:61,332,273-61,544,317 Size: 212,045 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:61,332,258-61,546,172)mRNA (may differ from genome)Protein (1215 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGImyGene2neXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZSWM6_HUMAN
DESCRIPTION: RecName: Full=Zinc finger SWIM domain-containing protein 6;
SIMILARITY: Contains 1 SWIM-type zinc finger.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZSWIM6
Diseases sorted by gene-association score: acromelic frontonasal dysostosis* (1711), dysostosis (20), corpus callosum agenesis (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.39 RPKM in Nerve - Tibial
Total median expression: 296.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -401.011855-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007527 - Znf_SWIM

ModBase Predicted Comparative 3D Structure on Q9HCJ5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008270 zinc ion binding
GO:0046872 metal ion binding


-  Descriptions from all associated GenBank mRNAs
  JD186849 - Sequence 167873 from Patent EP1572962.
JD271294 - Sequence 252318 from Patent EP1572962.
JD458584 - Sequence 439608 from Patent EP1572962.
JD056235 - Sequence 37259 from Patent EP1572962.
BX648543 - Homo sapiens mRNA; cDNA DKFZp779P0344 (from clone DKFZp779P0344).
JD317723 - Sequence 298747 from Patent EP1572962.
AB046797 - Homo sapiens mRNA for KIAA1577 protein, partial cds.
JD320584 - Sequence 301608 from Patent EP1572962.
JD040752 - Sequence 21776 from Patent EP1572962.
JD422577 - Sequence 403601 from Patent EP1572962.
JD508217 - Sequence 489241 from Patent EP1572962.
JD321385 - Sequence 302409 from Patent EP1572962.
JD053037 - Sequence 34061 from Patent EP1572962.
JD127405 - Sequence 108429 from Patent EP1572962.
JD208120 - Sequence 189144 from Patent EP1572962.
JD151570 - Sequence 132594 from Patent EP1572962.
BC039438 - Homo sapiens zinc finger, SWIM-type containing 6, mRNA (cDNA clone IMAGE:5303767).
JD223992 - Sequence 205016 from Patent EP1572962.
JD560367 - Sequence 541391 from Patent EP1572962.
JD053486 - Sequence 34510 from Patent EP1572962.
JD094569 - Sequence 75593 from Patent EP1572962.
JD039278 - Sequence 20302 from Patent EP1572962.
JD115487 - Sequence 96511 from Patent EP1572962.
JD050768 - Sequence 31792 from Patent EP1572962.
JD220995 - Sequence 202019 from Patent EP1572962.
JD241444 - Sequence 222468 from Patent EP1572962.
JD196859 - Sequence 177883 from Patent EP1572962.
JD410874 - Sequence 391898 from Patent EP1572962.
JD232232 - Sequence 213256 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000252744.1, ENST00000252744.2, ENST00000252744.3, ENST00000252744.4, ENST00000252744.5, KIAA1577, NM_020928, Q9HCJ5, uc003jsr.1, uc003jsr.2, uc003jsr.3, uc003jsr.4, uc003jsr.5, ZSWM6_HUMAN
UCSC ID: ENST00000252744.6
RefSeq Accession: NM_020928
Protein: Q9HCJ5 (aka ZSWM6_HUMAN or ZSW6_HUMAN)
CCDS: CCDS47215.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.