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Aliases for HMGXB4 Gene

Aliases for HMGXB4 Gene

  • HMG-Box Containing 4 2 3 5
  • High Mobility Group Protein 2-Like 1 3 4
  • HMG Box-Containing Protein 4 3 4
  • HMG Box Domain Containing 4 2 3
  • HMG2L1 3 4
  • HMGBCG 3 4
  • High-Mobility Group Protein 2-Like 1 2
  • HMG Domain-Containing Protein 4 3
  • Protein HMGBCG 4
  • THC211630 3

External Ids for HMGXB4 Gene

Previous HGNC Symbols for HMGXB4 Gene

  • HMG2L1

Previous GeneCards Identifiers for HMGXB4 Gene

  • GC22P033983
  • GC22P035653
  • GC22P018614
  • GC22P035257

Summaries for HMGXB4 Gene

Entrez Gene Summary for HMGXB4 Gene

  • High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]

GeneCards Summary for HMGXB4 Gene

HMGXB4 (HMG-Box Containing 4) is a Protein Coding gene. Diseases associated with HMGXB4 include Spherocytosis, Type 4. Gene Ontology (GO) annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot for HMGXB4 Gene

  • Negatively regulates Wnt/beta-catenin signaling during development.

Additional gene information for HMGXB4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMGXB4 Gene

Genomics for HMGXB4 Gene

GeneHancer (GH) Regulatory Elements for HMGXB4 Gene

Promoters and enhancers for HMGXB4 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
GH22I035256 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 584.6 +16.4 16391 2.1 ARID4B SIN3A DMAP1 YY1 E2F8 ZNF207 ZNF143 KLF13 SP3 CEBPZ HMGXB4 TOM1 LOC105373017 GC22P035250
GH22I035525 Enhancer 0.9 ENCODE 117.2 +284.4 284393 1.6 ZNF493 ZNF529 ZFP64 MZF1 ZNF155 ZNF213 ZNF354C ZNF138 RCOR1 KLF7 ENSG00000273044 HMGXB4 FOXRED2 RBFOX2 RPS15AP38 MCM5 MB RASD2 LOC100131536
GH22I035375 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 37.2 +137.5 137467 8 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MCM3 HMOX1 HMGXB4 MCM5 TOM1 RBFOX2 APOL6 ENSG00000282041
GH22I035298 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.7 +59.5 59509 4.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B TOM1 ENSG00000273176 GC22P035300 GC22M035299 HMGXB4 RBFOX2 MIR3909
GH22I035371 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE 43 +130.9 130923 2.1 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 SP3 ZFP41 ENSG00000282602 HMGXB4 RBFOX2 TOM1 HMOX1 MCM5 APOL6 ENSG00000282041
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HMGXB4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HMGXB4 gene promoter:

Genomic Locations for HMGXB4 Gene

Genomic Locations for HMGXB4 Gene
chr22:35,241,535-35,295,807
(GRCh38/hg38)
Size:
54,273 bases
Orientation:
Plus strand
chr22:35,653,445-35,691,800
(GRCh37/hg19)

Genomic View for HMGXB4 Gene

Genes around HMGXB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMGXB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMGXB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMGXB4 Gene

Proteins for HMGXB4 Gene

  • Protein details for HMGXB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGU5-HMGX4_HUMAN
    Recommended name:
    HMG domain-containing protein 4
    Protein Accession:
    Q9UGU5
    Secondary Accessions:
    • O75672
    • O75673
    • Q9UMT5

    Protein attributes for HMGXB4 Gene

    Size:
    601 amino acids
    Molecular mass:
    65712 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HMGXB4 Gene

Post-translational modifications for HMGXB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HMGXB4 Gene

No data available for DME Specific Peptides for HMGXB4 Gene

Domains & Families for HMGXB4 Gene

Gene Families for HMGXB4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HMGXB4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HMGXB4: view

No data available for UniProtKB/Swiss-Prot for HMGXB4 Gene

Function for HMGXB4 Gene

Molecular function for HMGXB4 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates Wnt/beta-catenin signaling during development.

Phenotypes From GWAS Catalog for HMGXB4 Gene

Gene Ontology (GO) - Molecular Function for HMGXB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with HMGXB4: view
genes like me logo Genes that share phenotypes with HMGXB4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HMGXB4 Gene

Localization for HMGXB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMGXB4 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 HMGXB4 gene
Compartment Confidence
nucleus 5
plasma membrane 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HMGXB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016589 NURF complex IDA 20850016
genes like me logo Genes that share ontologies with HMGXB4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HMGXB4 Gene

Pathways & Interactions for HMGXB4 Gene

SuperPathways for HMGXB4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMGXB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008333 endosome to lysosome transport NAS 10329004
GO:0016055 Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway ISS --
genes like me logo Genes that share ontologies with HMGXB4: view

No data available for Pathways by source and SIGNOR curated interactions for HMGXB4 Gene

Drugs & Compounds for HMGXB4 Gene

No Compound Related Data Available

Transcripts for HMGXB4 Gene

Unigene Clusters for HMGXB4 Gene

HMG box domain containing 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMGXB4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - -
SP6:
SP7: -
SP8:
SP9:

Relevant External Links for HMGXB4 Gene

GeneLoc Exon Structure for
HMGXB4
ECgene alternative splicing isoforms for
HMGXB4

Expression for HMGXB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HMGXB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HMGXB4 Gene

This gene is overexpressed in Platelet (26.1), Placenta (22.0), and Fetal ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HMGXB4 Gene



Protein tissue co-expression partners for HMGXB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of HMGXB4 Gene:

HMGXB4

SOURCE GeneReport for Unigene cluster for HMGXB4 Gene:

Hs.588815

Evidence on tissue expression from TISSUES for HMGXB4 Gene

  • Liver(4.4)
genes like me logo Genes that share expression patterns with HMGXB4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGXB4 Gene

Orthologs for HMGXB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMGXB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMGXB4 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia HMGXB4 33 34
  • 91.22 (n)
cow
(Bos Taurus)
Mammalia HMGXB4 33 34
  • 89.02 (n)
mouse
(Mus musculus)
Mammalia Hmgxb4 33 16 34
  • 85.35 (n)
rat
(Rattus norvegicus)
Mammalia Hmgxb4 33
  • 83.28 (n)
oppossum
(Monodelphis domestica)
Mammalia HMGXB4 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMGXB4 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMGXB4 33 34
  • 72.94 (n)
lizard
(Anolis carolinensis)
Reptilia HMGXB4 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmgxb4 33
  • 63.21 (n)
Str.822 33
African clawed frog
(Xenopus laevis)
Amphibia HMG2L1 33
zebrafish
(Danio rerio)
Actinopterygii hmgxb4a 34
  • 52 (a)
OneToMany
hmgxb4b 34
  • 34 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6678 33
fruit fly
(Drosophila melanogaster)
Insecta CG4617 34
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.702 34
  • 29 (a)
OneToOne
Species where no ortholog for HMGXB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HMGXB4 Gene

ENSEMBL:
Gene Tree for HMGXB4 (if available)
TreeFam:
Gene Tree for HMGXB4 (if available)

Paralogs for HMGXB4 Gene

No data available for Paralogs for HMGXB4 Gene

Variants for HMGXB4 Gene

Sequence variations from dbSNP and Humsavar for HMGXB4 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000117191 -- 35,282,452(+) C/G intron_variant
rs1000184578 -- 35,283,895(+) G/T intron_variant
rs1000205825 -- 35,288,781(+) G/A intron_variant
rs1000365778 -- 35,259,816(+) T/G intron_variant
rs1000493889 -- 35,261,371(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HMGXB4 Gene

Variant ID Type Subtype PubMed ID
esv2170801 CNV deletion 18987734
nsv1136672 CNV deletion 24896259
nsv588948 CNV loss 21841781

Variation tolerance for HMGXB4 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.13; 84.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMGXB4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMGXB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMGXB4 Gene

Disorders for HMGXB4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HMGXB4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 4
  • sph4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HMGXB4

genes like me logo Genes that share disorders with HMGXB4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HMGXB4 Gene

Publications for HMGXB4 Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 58
  2. TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1 and encode proteins similar to the endosomal proteins HGS and STAM. (PMID: 10329004) Seroussi E … Dumanski JP (Genomics 1999) 2 3 4 58
  3. Repression of smooth muscle differentiation by a novel high mobility group box-containing protein, HMG2L1. (PMID: 20511232) Zhou J … Wang X (The Journal of biological chemistry 2010) 2 3 58
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  5. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins JE … Dunham I (Genome research 2003) 3 4 58

Products for HMGXB4 Gene

Sources for HMGXB4 Gene

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