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] See more...

Aliases for ZSWIM6 Gene

Aliases for ZSWIM6 Gene

  • Zinc Finger SWIM-Type Containing 6 2 3 5
  • Zinc Finger SWIM Domain-Containing Protein 6 3 4
  • KIAA1577 2 4
  • Zinc Finger, SWIM Domain Containing 6 3
  • NEDMAGA 3
  • ZSWIM6 5
  • AFND 3

External Ids for ZSWIM6 Gene

Previous GeneCards Identifiers for ZSWIM6 Gene

  • GC05P060783
  • GC05P060645
  • GC05P060663
  • GC05P060628
  • GC05P057585

Summaries for ZSWIM6 Gene

Entrez Gene Summary for ZSWIM6 Gene

  • 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]

GeneCards Summary for ZSWIM6 Gene

ZSWIM6 (Zinc Finger SWIM-Type Containing 6) is a Protein Coding gene. Diseases associated with ZSWIM6 include Acromelic Frontonasal Dysostosis and Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features. An important paralog of this gene is ZSWIM5.

UniProtKB/Swiss-Prot Summary for ZSWIM6 Gene

  • involved in nervous system development, important for striatal morphology and motor regulation.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZSWIM6 Gene

Genomics for ZSWIM6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZSWIM6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J061327 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 613 -0.3 -348 8.6 RNF2 SP1 CREB1 GATAD2A ZBTB33 PRDM10 REST ZNF629 CTCF ZNF692 ZSWIM6 lnc-SMIM15-2 ELOVL7 LOC105378994 SMIM15
GH05J060943 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 13.6 -386.9 -386857 4 SP1 CREB1 GATAD2A PRDM10 ZNF629 RFX1 ZNF692 POLR2A FOS FOXA1 ERCC8 NDUFAF2 NONHSAG040481.2 lnc-ELOVL7-1 DEPDC1B ZSWIM6 ELOVL7 piR-60985-091 SMIM15
GH05J061298 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE dbSUPER 14.2 -29.4 -29440 9.4 CEBPG CREB1 GATAD2A ATF7 PRDM10 RFX1 SOX13 NFKBIZ RCOR2 FOXA1 SMIM15 lnc-ZSWIM6-5 ZSWIM6 SMIM15-AS1 RNU6-913P ERCC8 LINC02057 lnc-ZSWIM6-2 LOC105378993
GH05J061288 Enhancer 1 Ensembl ENCODE dbSUPER 12.3 -41.2 -41157 5.4 CTCF ZIC2 POLR2A SP1 GABPA CTBP1 USF1 PKNOX1 ZNF217 ZNF207 ZSWIM6 ERCC8 lnc-ZSWIM6-2 LINC02057 lnc-ZSWIM6-3 SMIM15
GH05J061415 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.6 +83.7 83743 4.4 MYNN BATF RAD21 SP1 CTCF ZSWIM6 RNU6-913P RPL3P6 piR-36701 KIF2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZSWIM6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZSWIM6

Top Transcription factor binding sites by QIAGEN in the ZSWIM6 gene promoter:
  • E2F
  • E2F-1
  • LCR-F1
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU3F1
  • RSRFC4
  • TBP

Genomic Locations for ZSWIM6 Gene

Genomic Locations for ZSWIM6 Gene
chr5:61,332,258-61,546,172
(GRCh38/hg38)
Size:
213,915 bases
Orientation:
Plus strand
chr5:60,628,100-60,841,999
(GRCh37/hg19)
Size:
213,900 bases
Orientation:
Plus strand

Genomic View for ZSWIM6 Gene

Genes around ZSWIM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZSWIM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZSWIM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZSWIM6 Gene

Proteins for ZSWIM6 Gene

  • Protein details for ZSWIM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCJ5-ZSWM6_HUMAN
    Recommended name:
    Zinc finger SWIM domain-containing protein 6
    Protein Accession:
    Q9HCJ5

    Protein attributes for ZSWIM6 Gene

    Size:
    1215 amino acids
    Molecular mass:
    133470 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZSWIM6 Gene

Post-translational modifications for ZSWIM6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZSWIM6 Gene

No data available for DME Specific Peptides for ZSWIM6 Gene

Domains & Families for ZSWIM6 Gene

Gene Families for ZSWIM6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ZSWIM6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZSWIM6 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger SWIM domain-containing protein 6 (ZSWM6_HUMAN)
genes like me logo Genes that share domains with ZSWIM6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZSWIM6 Gene

Function for ZSWIM6 Gene

Molecular function for ZSWIM6 Gene

UniProtKB/Swiss-Prot Function:
involved in nervous system development, important for striatal morphology and motor regulation.

Phenotypes From GWAS Catalog for ZSWIM6 Gene

Gene Ontology (GO) - Molecular Function for ZSWIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZSWIM6: view
genes like me logo Genes that share phenotypes with ZSWIM6: view

Human Phenotype Ontology for ZSWIM6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZSWIM6 Gene

MGI Knock Outs for ZSWIM6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZSWIM6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZSWIM6 Gene

Localization for ZSWIM6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZSWIM6 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZSWIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031462 Cul2-RING ubiquitin ligase complex IBA 21873635
GO:0032420 stereocilium IEA --
genes like me logo Genes that share ontologies with ZSWIM6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ZSWIM6 Gene

Pathways & Interactions for ZSWIM6 Gene

PathCards logo

SuperPathways for ZSWIM6 Gene

No Data Available

Interacting Proteins for ZSWIM6 Gene

Gene Ontology (GO) - Biological Process for ZSWIM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0021773 striatal medium spiny neuron differentiation IEA,ISS --
GO:0048812 neuron projection morphogenesis IEA --
GO:1902667 regulation of axon guidance IBA 21873635
GO:2001222 regulation of neuron migration IEA --
genes like me logo Genes that share ontologies with ZSWIM6: view

No data available for Pathways by source and SIGNOR curated interactions for ZSWIM6 Gene

Drugs & Compounds for ZSWIM6 Gene

No Compound Related Data Available

Transcripts for ZSWIM6 Gene

mRNA/cDNA for ZSWIM6 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZSWIM6

Alternative Splicing Database (ASD) splice patterns (SP) for ZSWIM6 Gene

No ASD Table

Relevant External Links for ZSWIM6 Gene

GeneLoc Exon Structure for
ZSWIM6

Expression for ZSWIM6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZSWIM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZSWIM6 Gene

This gene is overexpressed in Liver, secretome (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZSWIM6 Gene



Protein tissue co-expression partners for ZSWIM6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZSWIM6

SOURCE GeneReport for Unigene cluster for ZSWIM6 Gene:

Hs.744939

Evidence on tissue expression from TISSUES for ZSWIM6 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZSWIM6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
  • lip
  • meninges
  • mouth
  • neck
  • nose
  • skull
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ZSWIM6: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ZSWIM6 Gene

Orthologs for ZSWIM6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZSWIM6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZSWIM6 31
  • 98 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZSWIM6 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ZSWIM6 30 31
  • 95.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZSWIM6 30 31
  • 95.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zswim6 30 17 31
  • 93.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zswim6 30
  • 93 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ZSWIM6 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 94 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
ZSWIM6 30
  • 88.65 (n)
Lizard
(Anolis carolinensis)
Reptilia ZSWIM6 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zswim6 30
  • 84.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii zswim6 30 31
  • 75.42 (n)
OneToOne
Dr.28381 30
Worm
(Caenorhabditis elegans)
Secernentea ebax-1 31
  • 14 (a)
OneToMany
Species where no ortholog for ZSWIM6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ZSWIM6 Gene

ENSEMBL:
Gene Tree for ZSWIM6 (if available)
TreeFam:
Gene Tree for ZSWIM6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZSWIM6: view image

Paralogs for ZSWIM6 Gene

Paralogs for ZSWIM6 Gene

(2) SIMAP similar genes for ZSWIM6 Gene using alignment to 1 proteins:

  • ZSWM6_HUMAN
genes like me logo Genes that share paralogs with ZSWIM6: view

Variants for ZSWIM6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZSWIM6 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
638342 Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 61,543,550(+) A/G MISSENSE_VARIANT
708200 Likely Benign: not provided 61,530,119(+) T/G SYNONYMOUS_VARIANT
717679 Likely Benign: not provided 61,543,735(+) G/A SYNONYMOUS_VARIANT
718714 Likely Benign: not provided 61,526,326(+) A/G SYNONYMOUS_VARIANT
721820 Likely Benign: not provided 61,472,748(+) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZSWIM6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZSWIM6 Gene

Variant ID Type Subtype PubMed ID
dgv9812n54 CNV gain 21841781
dgv9813n54 CNV loss 21841781
esv22368 CNV gain+loss 19812545
esv2730245 CNV deletion 23290073
esv3605213 CNV loss 21293372
nsv1073885 CNV deletion 25765185
nsv1144106 CNV deletion 24896259
nsv522826 CNV loss 19592680
nsv598315 CNV loss 21841781
nsv598318 CNV gain+loss 21841781
nsv598319 CNV loss 21841781
nsv823089 CNV gain 20364138
nsv823090 CNV loss 20364138
nsv930487 CNV deletion 23359205
nsv950068 CNV deletion 24416366
nsv950069 CNV duplication 24416366
nsv950070 CNV duplication 24416366
nsv968179 CNV duplication 23825009
nsv980649 CNV duplication 23825009

Variation tolerance for ZSWIM6 Gene

Gene Damage Index Score: 15.72; 97.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZSWIM6 Gene

Human Gene Mutation Database (HGMD)
ZSWIM6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZSWIM6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZSWIM6 Gene

Disorders for ZSWIM6 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ZSWIM6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZSWM6_HUMAN
  • Acromelic frontonasal dysostosis (AFND) [MIM:603671]: A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V-shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. {ECO:0000269 PubMed:25105228}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) [MIM:617865]: An autosomal dominant neurodevelopmental disorder characterized by infantile-onset global developmental delay, severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy. {ECO:0000269 PubMed:29198722}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ZSWIM6: view

No data available for Genatlas for ZSWIM6 Gene

Publications for ZSWIM6 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  2. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. (PMID: 29198722) Palmer EE … Gecz J (American journal of human genetics 2017) 3 4
  3. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. (PMID: 25105228) Smith JD … Cunningham ML (American journal of human genetics 2014) 3 4
  4. Altered gene expression in the subdivisions of the amygdala of Fyn-deficient mice as revealed by laser capture microdissection and mKIAA cDNA array analysis. (PMID: 16427614) Kai N … Yuasa S (Brain research 2006) 2 3
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

Products for ZSWIM6 Gene

Sources for ZSWIM6 Gene