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

Gene ID: 57688, updated on 5-Aug-2018

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; Vega:OTTHUMG00000162388
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

Genomic context

See ZSWIM6 in Genome Data Viewer
Location:
5q12.1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (61332273..61546172)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60628100..60841999)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378993 Neighboring gene uncharacterized LOC105378994 Neighboring gene DEAD-box helicase 25 pseudogene Neighboring gene family with sequence similarity 133 member B pseudogene Neighboring gene ribosomal protein L3 pseudogene 6 Neighboring gene basic proline-rich protein Neighboring gene uncharacterized LOC101928651 Neighboring gene chromosome 5 open reading frame 64 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 Jun 15 11:32:44 2016

Bibliography

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: CN800196 OMIM: 617865 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1577, DKFZp779P0344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Cul2-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..218900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AA740254, AB046797, AC008836, AC122718, AW136453, BF750632, BF751445
    Consensus CDS
    CCDS47215.1
    UniProtKB/Swiss-Prot
    Q9HCJ5
    Related
    ENSP00000252744.5, OTTHUMP00000221941, ENST00000252744.5, OTTHUMT00000368710

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    61332273..61546172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_024446140.1XP_024301908.1  zinc finger SWIM domain-containing protein 6 isoform X3

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

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