Aliases for ZMYM5 Gene

Aliases for ZMYM5 Gene

  • Zinc Finger MYM-Type Containing 5 2 3 5
  • Zinc Finger Protein 237 2 3 4
  • Zinc Finger MYM-Type Protein 5 3 4
  • Zinc Finger Protein 198-Like 1 3 4
  • ZNF198L1 3 4
  • ZNF237 3 4
  • Zinc Finger, MYM-Type 5 3
  • HSPC050 3
  • MYM 3

External Ids for ZMYM5 Gene

Previous HGNC Symbols for ZMYM5 Gene

  • ZNF237

Previous GeneCards Identifiers for ZMYM5 Gene

  • GC13M019310
  • GC13M020397
  • GC13M001202

Summaries for ZMYM5 Gene

GeneCards Summary for ZMYM5 Gene

ZMYM5 (Zinc Finger MYM-Type Containing 5) is a Protein Coding gene. Diseases associated with ZMYM5 include Dyskeratosis Congenita, Autosomal Recessive 2 and Moyamoya Disease 1. An important paralog of this gene is ZMYM2.

UniProtKB/Swiss-Prot Summary for ZMYM5 Gene

Additional gene information for ZMYM5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZMYM5 Gene

Genomics for ZMYM5 Gene

GeneHancer (GH) Regulatory Elements for ZMYM5 Gene

Promoters and enhancers for ZMYM5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZMYM5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZMYM5

Top Transcription factor binding sites by QIAGEN in the ZMYM5 gene promoter:
  • HEN1
  • MAZR
  • p300
  • POU3F1
  • RREB-1
  • Spz1
  • STAT5A
  • STAT5B
  • YY1

Genomic Locations for ZMYM5 Gene

Genomic Locations for ZMYM5 Gene
chr13:19,823,482-19,863,649
(GRCh38/hg38)
Size:
40,168 bases
Orientation:
Minus strand
chr13:20,397,622-20,437,776
(GRCh37/hg19)
Size:
40,155 bases
Orientation:
Minus strand

Genomic View for ZMYM5 Gene

Genes around ZMYM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZMYM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZMYM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZMYM5 Gene

Proteins for ZMYM5 Gene

  • Protein details for ZMYM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJ78-ZMYM5_HUMAN
    Recommended name:
    Zinc finger MYM-type protein 5
    Protein Accession:
    Q9UJ78
    Secondary Accessions:
    • B2R6V1
    • Q5T6E1
    • Q5T6E2
    • Q5T6E4
    • Q96IY6
    • Q9NZY5
    • Q9UBW0
    • Q9UJ77

    Protein attributes for ZMYM5 Gene

    Size:
    669 amino acids
    Molecular mass:
    74817 Da
    Quaternary structure:
    • Interacts (via N-terminal 120 amino acid region) with ETV5 (via C-terminal).
    SequenceCaution:
    • Sequence=AAF29022.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZMYM5 Gene

    Alternative splice isoforms for ZMYM5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZMYM5 Gene

Post-translational modifications for ZMYM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZMYM5 Gene

Domains & Families for ZMYM5 Gene

Gene Families for ZMYM5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ZMYM5 Gene

Blocks:
  • TRASH
  • MYM-type zinc finger
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZMYM5 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 237 (ZMYM5_HUMAN)
genes like me logo Genes that share domains with ZMYM5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZMYM5 Gene

Function for ZMYM5 Gene

Molecular function for ZMYM5 Gene

UniProtKB/Swiss-Prot Function:
Functions as a transcriptional regulator.

Phenotypes From GWAS Catalog for ZMYM5 Gene

Gene Ontology (GO) - Molecular Function for ZMYM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA 17126306
GO:0005515 protein binding IPI 17126306
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZMYM5: view
genes like me logo Genes that share phenotypes with ZMYM5: view

Animal Model Products

CRISPR Products

miRNA for ZMYM5 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZMYM5 Gene

Localization for ZMYM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZMYM5 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 ZMYM5 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZMYM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ZMYM5: view

Pathways & Interactions for ZMYM5 Gene

PathCards logo

SuperPathways for ZMYM5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZMYM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0022604 regulation of cell morphogenesis IBA 21873635
genes like me logo Genes that share ontologies with ZMYM5: view

No data available for Pathways by source and SIGNOR curated interactions for ZMYM5 Gene

Drugs & Compounds for ZMYM5 Gene

No Compound Related Data Available

Transcripts for ZMYM5 Gene

mRNA/cDNA for ZMYM5 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZMYM5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9
SP1: -
SP2: - -
SP3:
SP4: -
SP5: -
SP6:
SP7: - -

Relevant External Links for ZMYM5 Gene

GeneLoc Exon Structure for
ZMYM5

Expression for ZMYM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZMYM5 Gene

Protein differential expression in normal tissues from HIPED for ZMYM5 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZMYM5 Gene



Protein tissue co-expression partners for ZMYM5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZMYM5

SOURCE GeneReport for Unigene cluster for ZMYM5 Gene:

Hs.530988

Evidence on tissue expression from TISSUES for ZMYM5 Gene

  • Nervous system(4.3)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with ZMYM5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZMYM5 Gene

Orthologs for ZMYM5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZMYM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZMYM5 31 30
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZMYM5 30
  • 87.8 (n)
cow
(Bos Taurus)
Mammalia ZMYM5 31 30
  • 85.58 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306353 30
  • 79.98 (n)
mouse
(Mus musculus)
Mammalia Zmym5 17 31 30
  • 79.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 18 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 17 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii zmym2 31
  • 11 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta woc 31
  • 4 (a)
OneToMany
Species where no ortholog for ZMYM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZMYM5 Gene

ENSEMBL:
Gene Tree for ZMYM5 (if available)
TreeFam:
Gene Tree for ZMYM5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZMYM5: view image

Paralogs for ZMYM5 Gene

genes like me logo Genes that share paralogs with ZMYM5: view

Variants for ZMYM5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZMYM5 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs41292167 - p.Thr231Ala
rs9579717 - p.Cys137Phe
rs9579718 - p.Ile125Val

Additional dbSNP identifiers (rs#s) for ZMYM5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZMYM5 Gene

Variant ID Type Subtype PubMed ID
dgv1607n100 CNV gain 25217958
dgv1609n100 CNV gain 25217958
dgv3071n54 CNV loss 21841781
dgv535e212 CNV gain 25503493
esv2761244 CNV gain 21179565
esv3582126 CNV gain 25503493
esv3631393 CNV gain 21293372
esv3631403 CNV gain 21293372
esv3631404 CNV gain 21293372
esv3631405 CNV loss 21293372
esv3631406 CNV gain 21293372
esv3631407 CNV loss 21293372
esv3631408 CNV gain 21293372
esv3892297 CNV gain 25118596
esv3892300 CNV loss 25118596
nsv1036275 CNV loss 25217958
nsv1038964 CNV gain 25217958
nsv1041042 CNV gain 25217958
nsv1046946 CNV gain 25217958
nsv1054226 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1116721 CNV tandem duplication 24896259
nsv1127310 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv455826 CNV loss 19166990
nsv516945 CNV gain+loss 19592680
nsv561213 CNV loss 21841781
nsv561214 CNV gain 21841781

Variation tolerance for ZMYM5 Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZMYM5 Gene

Human Gene Mutation Database (HGMD)
ZMYM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZMYM5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZMYM5 Gene

Disorders for ZMYM5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZMYM5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal recessive 2
  • dkcb2
moyamoya disease 1
  • mymy1
- elite association - COSMIC cancer census association via MalaCards
Search ZMYM5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZMYM5

genes like me logo Genes that share disorders with ZMYM5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZMYM5 Gene

Publications for ZMYM5 Gene

  1. Cloning of ZNF237, a novel member of the MYM gene family that maps to human chromosome 13q11-->q12. (PMID: 10894931) Sohal J … Cross NC (Cytogenetics and cell genetics 2000) 3 4 23 54
  2. Analysis of transcriptional modulation of the presenilin 1 gene promoter by ZNF237, a candidate binding partner of the Ets transcription factor ERM. (PMID: 17126306) Pastorcic M … Das HK (Brain research 2007) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 54
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 54

Products for ZMYM5 Gene

Sources for ZMYM5 Gene