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    ZSWIM6 zinc finger SWIM-type containing 6 [ Homo sapiens (human) ]

    Gene ID: 57688, updated on 17-Jun-2024

    Summary

    Official Symbol
    ZSWIM6provided by HGNC
    Official Full Name
    zinc finger SWIM-type containing 6provided by HGNC
    Primary source
    HGNC:HGNC:29316
    See related
    Ensembl:ENSG00000130449 MIM:615951; AllianceGenome:HGNC:29316
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AFND; NEDMAGA
    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 acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in gall bladder (RPKM 6.8), brain (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ZSWIM6 in Genome Data Viewer
    Location:
    5q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (61332258..61546172)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (62151402..62365278)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60628085..60841999)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378993 Neighboring gene uncharacterized LOC105378994 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:60626175-60626745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16049 Neighboring gene DEAD-box helicase 25 pseudogene Neighboring gene family with sequence similarity 133 member B pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:60703838-60705037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:60711419-60712045 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:60712046-60712673 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:60712674-60713300 Neighboring gene ribosomal protein L3 pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 3122 Neighboring gene uncharacterized LOC101928651 Neighboring gene RNA, U6 small nuclear 913, pseudogene Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 22

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acromelic frontonasal dysostosis
    MedGen: C1863616 OMIM: 603671 GeneReviews: Not available
    Compare labs
    Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
    MedGen: C4693405 OMIM: 617865 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1577, DKFZp779P0344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in striatal medium spiny neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    zinc finger SWIM domain-containing protein 6
    Names
    zinc finger, SWIM domain containing 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053150.1 RefSeqGene

      Range
      4986..218900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020928.2NP_065979.1  zinc finger SWIM domain-containing protein 6

      See identical proteins and their annotated locations for NP_065979.1

      Status: REVIEWED

      Source sequence(s)
      AA740254, AB046797, AC008836, AC122718, AW136453, BF750632, BF751445
      Consensus CDS
      CCDS47215.1
      UniProtKB/Swiss-Prot
      Q9HCJ5
      Related
      ENSP00000252744.5, ENST00000252744.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      61332258..61546172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417453.1XP_047273409.1  zinc finger SWIM domain-containing protein 6 isoform X3

    2. XM_024446139.2XP_024301907.1  zinc finger SWIM domain-containing protein 6 isoform X1

    3. XM_017009677.2XP_016865166.1  zinc finger SWIM domain-containing protein 6 isoform X2

    4. XM_047417454.1XP_047273410.1  zinc finger SWIM domain-containing protein 6 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      62151402..62365278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353016.1XP_054208991.1  zinc finger SWIM domain-containing protein 6 isoform X1

    2. XM_054353018.1XP_054208993.1  zinc finger SWIM domain-containing protein 6 isoform X3

    3. XM_054353017.1XP_054208992.1  zinc finger SWIM domain-containing protein 6 isoform X2

    4. XM_054353019.1XP_054208994.1  zinc finger SWIM domain-containing protein 6 isoform X4