Aliases for HMG20A Gene

Aliases for HMG20A Gene

  • High Mobility Group 20A 2 3 5
  • HMG Domain-Containing Protein HMGX1 3 4
  • High Mobility Group Protein 20A 3 4
  • HMG Domain-Containing Protein 1 3 4
  • HMG Box-Containing Protein 20A 3 4
  • HMG Box Domain Containing 1 2 3
  • HMGXB1 3 4
  • HMGX1 3 4
  • High-Mobility Group 20A 2

External Ids for HMG20A Gene

Previous GeneCards Identifiers for HMG20A Gene

  • GC15P073605
  • GC15P070803
  • GC15P075289
  • GC15P075429
  • GC15P075500
  • GC15P077712
  • GC15P054470

Summaries for HMG20A Gene

GeneCards Summary for HMG20A Gene

HMG20A (High Mobility Group 20A) is a Protein Coding gene. Diseases associated with HMG20A include Autosomal Recessive Congenital Cerebellar Ataxia. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is HMG20B.

UniProtKB/Swiss-Prot Summary for HMG20A Gene

  • Plays a role in neuronal differentiation as chromatin-associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4 (By similarity).

Gene Wiki entry for HMG20A Gene

Additional gene information for HMG20A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMG20A Gene

Genomics for HMG20A Gene

GeneHancer (GH) Regulatory Elements for HMG20A Gene

Promoters and enhancers for HMG20A 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 HMG20A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMG20A

Top Transcription factor binding sites by QIAGEN in the HMG20A gene promoter:
  • aMEF-2
  • ATF-2
  • CUTL1
  • HNF-3beta
  • HOXA9
  • HOXA9B
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1a

Genomic Locations for HMG20A Gene

Genomic Locations for HMG20A Gene
chr15:77,420,412-77,485,607
(GRCh38/hg38)
Size:
65,196 bases
Orientation:
Plus strand
chr15:77,712,754-77,777,949
(GRCh37/hg19)
Size:
65,196 bases
Orientation:
Plus strand

Genomic View for HMG20A Gene

Genes around HMG20A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMG20A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMG20A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMG20A Gene

Proteins for HMG20A Gene

  • Protein details for HMG20A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP66-HM20A_HUMAN
    Recommended name:
    High mobility group protein 20A
    Protein Accession:
    Q9NP66
    Secondary Accessions:
    • A6NHY3
    • D3DW78
    • Q53G31
    • Q9NSF6

    Protein attributes for HMG20A Gene

    Size:
    347 amino acids
    Molecular mass:
    40144 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HMG20A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMG20A Gene

Post-translational modifications for HMG20A Gene

  • Ubiquitination at Lys230
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HMG20A Gene

Domains & Families for HMG20A Gene

Gene Families for HMG20A Gene

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

Protein Domains for HMG20A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HMG20A Gene

GenScript: Design optimal peptide antigens:
  • HMG domain-containing protein HMGX1 (HM20A_HUMAN)
genes like me logo Genes that share domains with HMG20A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HMG20A Gene

Function for HMG20A Gene

Molecular function for HMG20A Gene

UniProtKB/Swiss-Prot Function:
Plays a role in neuronal differentiation as chromatin-associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4 (By similarity).

Phenotypes From GWAS Catalog for HMG20A Gene

Gene Ontology (GO) - Molecular Function for HMG20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,NAS 10773667
GO:0003700 DNA-binding transcription factor activity NAS 10773667
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 16189514
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HMG20A: view
genes like me logo Genes that share phenotypes with HMG20A: view

Animal Model Products

CRISPR Products

miRNA for HMG20A Gene

miRTarBase miRNAs that target HMG20A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HMG20A Gene

Localization for HMG20A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMG20A 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 HMG20A gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
golgi apparatus 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HMG20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,NAS 10773667
genes like me logo Genes that share ontologies with HMG20A: view

Pathways & Interactions for HMG20A Gene

PathCards logo

SuperPathways for HMG20A Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMG20A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006325 chromatin organization NAS 10773667
GO:0006355 regulation of transcription, DNA-templated NAS 10773667
GO:0033234 negative regulation of protein sumoylation IEA --
GO:0045665 negative regulation of neuron differentiation IEA --
genes like me logo Genes that share ontologies with HMG20A: view

No data available for Pathways by source and SIGNOR curated interactions for HMG20A Gene

Drugs & Compounds for HMG20A Gene

No Compound Related Data Available

Transcripts for HMG20A Gene

mRNA/cDNA for HMG20A Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
12 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 HMG20A Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2: -
SP3: - -
SP4: -
SP5: - -
SP6:
SP7:

Relevant External Links for HMG20A Gene

GeneLoc Exon Structure for
HMG20A

Expression for HMG20A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HMG20A Gene

Protein differential expression in normal tissues from HIPED for HMG20A Gene

This gene is overexpressed in Blymphocyte (12.3), Fetal ovary (11.2), and CD8 Tcells (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HMG20A Gene



Protein tissue co-expression partners for HMG20A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMG20A

SOURCE GeneReport for Unigene cluster for HMG20A Gene:

Hs.69594

mRNA Expression by UniProt/SwissProt for HMG20A Gene:

Q9NP66-HM20A_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for HMG20A Gene

  • Nervous system(4.6)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with HMG20A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMG20A Gene

Orthologs for HMG20A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HMG20A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMG20A 31 30
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HMG20A 31 30
  • 95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HMG20A 31 30
  • 94.24 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMG20A 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmg20a 17 31 30
  • 91.62 (n)
rat
(Rattus norvegicus)
Mammalia Hmg20a 30
  • 90.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMG20A 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 89 (a)
OneToMany
HMG20A 31 30
  • 78 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HMG20A 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8432 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7860 30
zebrafish
(Danio rerio)
Actinopterygii hmg20a 31 30
  • 69.11 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004789 30
  • 49.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9418 31 30
  • 47.73 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hmg-20 31
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHP6A 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for HMG20A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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 HMG20A Gene

ENSEMBL:
Gene Tree for HMG20A (if available)
TreeFam:
Gene Tree for HMG20A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HMG20A: view image

Paralogs for HMG20A Gene

(1) SIMAP similar genes for HMG20A Gene using alignment to 8 proteins:

  • HM20A_HUMAN
  • H0YK55_HUMAN
  • H0YKL0_HUMAN
  • H0YKM5_HUMAN
  • H0YM80_HUMAN
  • H0YMG2_HUMAN
  • H0YMS9_HUMAN
  • H0YNS8_HUMAN
genes like me logo Genes that share paralogs with HMG20A: view

Variants for HMG20A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMG20A Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
710819 Likely Benign: not provided 77,458,433(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for HMG20A Gene

Structural Variations from Database of Genomic Variants (DGV) for HMG20A Gene

Variant ID Type Subtype PubMed ID
esv2660058 CNV deletion 23128226
esv2749898 CNV deletion 23290073
esv3306898 CNV mobile element insertion 20981092
esv3362224 CNV insertion 20981092
esv3552706 CNV deletion 23714750
esv3636966 CNV loss 21293372
nsv1040852 CNV gain 25217958
nsv1043284 CNV gain 25217958
nsv1116463 OTHER inversion 24896259
nsv570139 CNV loss 21841781

Variation tolerance for HMG20A Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMG20A Gene

Human Gene Mutation Database (HGMD)
HMG20A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMG20A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMG20A Gene

Disorders for HMG20A Gene

MalaCards: The human disease database

(1) MalaCards diseases for HMG20A Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HMG20A

genes like me logo Genes that share disorders with HMG20A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HMG20A Gene

Publications for HMG20A Gene

  1. HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression. (PMID: 10773667) Sumoy L … Peral B (Cytogenetics and cell genetics 2000) 2 3 4 54
  2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 41 54
  3. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. (PMID: 21874001) Kooner JS … Chambers JC (Nature genetics 2011) 3 41 54
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for HMG20A Gene

Sources for HMG20A Gene