Aliases for HMGXB4 Gene
Aliases for HMGXB4 Gene
External Ids for HMGXB4 Gene
- HGNC: 5003
- Entrez Gene: 10042
- Ensembl: ENSG00000100281
- OMIM: 604702
- UniProtKB: Q9UGU5
Previous HGNC Symbols for HMGXB4 Gene
- HMG2L1
Previous GeneCards Identifiers for HMGXB4 Gene
- GC22P033983
- GC22P035653
- GC22P018614
- GC22P035257
Summaries 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. GO annotations related to this gene include chromatin binding.
UniProtKB/Swiss-Prot for HMGXB4 Gene
-
Negatively regulates Wnt/beta-catenin signaling during development.
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
Regulatory Elements for HMGXB4 Gene
Enhancers for HMGXB4 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH22G035525 | 1 | ENCODE | 80.2 | +284.4 | 284394 | 1.6 | HDGF FOXA2 ZNF493 ZFP64 ARID4B YY1 KLF7 FOS ZNF263 SP5 | HMGXB4 RPS15AP38 MB RASD2 ENSG00000273044 LOC100131536 |
| GH22G035396 | 1.4 | ENCODE dbSUPER | 36.9 | +157.5 | 157510 | 5.6 | HDGF PKNOX1 FOXA2 MLX AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 | HMGXB4 MCM5 HMOX1 |
| GH22G035371 | 1.5 | FANTOM5 ENCODE | 30.2 | +130.9 | 130924 | 2.1 | PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 | HMGXB4 TOM1 HMOX1 APOL6 ENSG00000282602 ENSG00000282041 |
| GH22G035586 | 1.8 | VISTA Ensembl ENCODE dbSUPER | 24.4 | +348.9 | 348941 | 7.8 | PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 FOS KLF7 ZNF263 REST | HMGXB4 RASD2 MB RPS15AP38 APOL6 ENSG00000268818 |
| GH22G035298 | 1.4 | ENCODE dbSUPER | 28.2 | +59.5 | 59509 | 4.7 | HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B | HMGXB4 TOM1 GC22P035300 MIR3909 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HMGXB4 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HMGXB4 gene promoter:
Regulatory Element Products
Genomic Location for HMGXB4 Gene
- Chromosome:
- 22
- Start:
- 35,241,535 bp from pter
- End:
- 35,295,807 bp from pter
- Size:
- 54,273 bases
- Orientation:
- Plus strand
Genomic View for HMGXB4 Gene
Genes around HMGXB4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.3 by Ensembl
- 22q12.3 by Entrez Gene
- 22q12.3 by HGNC
HMGXB4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- O75672
- O75673
- Q9UMT5
Protein attributes for HMGXB4 Gene
- Size:
- 601 amino acids
- Molecular mass:
- 65712 Da
- Quaternary structure:
- No Data Available
Protein Expression for HMGXB4 Gene
Post-translational modifications for HMGXB4 Gene
Other Protein References for HMGXB4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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- antibodies-online Antibodies for HMGXB4: See all 23
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-
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Protein Products
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-
Cloud-Clone Corp. Proteins for HMGXB4
- antibodies-online Proteins for HMGXB4: See all 5
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Assay Products
No data available for DME Specific Peptides for HMGXB4 Gene
Domains & Families for HMGXB4 Gene
Gene Families for HMGXB4 Gene
Protein Domains for HMGXB4 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HMGXB4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for HMGXB4 Gene
- GenomeRNAi human phenotypes for HMGXB4:
Animal Model Products
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miRNA for HMGXB4 Gene
- miRTarBase miRNAs that target HMGXB4
-
- hsa-mir-221-3p (MIRT003368)
- hsa-mir-186-5p (MIRT021175)
- hsa-mir-30c-5p (MIRT047935)
- hsa-let-7c-3p (MIRT087686)
- hsa-mir-190a-3p (MIRT205681)
- hsa-mir-297 (MIRT205684)
- hsa-mir-3924 (MIRT205685)
- hsa-mir-5011-5p (MIRT205686)
- hsa-mir-19a-5p (MIRT236399)
- hsa-mir-19b-1-5p (MIRT236400)
- hsa-mir-19b-2-5p (MIRT236401)
- hsa-mir-2052 (MIRT236402)
- hsa-mir-3174 (MIRT236403)
- hsa-mir-4693-3p (MIRT236404)
- hsa-mir-5586-3p (MIRT236405)
- hsa-let-7a-2-3p (MIRT352639)
- hsa-let-7g-3p (MIRT352640)
- hsa-mir-323a-3p (MIRT352641)
- hsa-mir-493-5p (MIRT352642)
- hsa-mir-4528 (MIRT352644)
- hsa-mir-3154 (MIRT352663)
- hsa-mir-218-5p (MIRT440490)
- hsa-mir-6809-5p (MIRT475578)
- hsa-mir-4716-3p (MIRT475579)
- hsa-mir-6883-5p (MIRT475580)
- hsa-mir-4728-5p (MIRT475581)
- hsa-mir-6785-5p (MIRT475582)
- hsa-mir-149-3p (MIRT475583)
- hsa-mir-4261 (MIRT475584)
- hsa-mir-3141 (MIRT475585)
- hsa-mir-4756-5p (MIRT475586)
- hsa-mir-4739 (MIRT475587)
- hsa-mir-1321 (MIRT475588)
- hsa-mir-4496 (MIRT475589)
- hsa-mir-1277-5p (MIRT511496)
- hsa-mir-567 (MIRT511497)
- hsa-mir-3163 (MIRT511498)
- hsa-mir-129-5p (MIRT557254)
- hsa-mir-3680-3p (MIRT557255)
- hsa-mir-557 (MIRT557256)
- hsa-mir-507 (MIRT557257)
- hsa-mir-106a-3p (MIRT557258)
- hsa-mir-450b-5p (MIRT557259)
- hsa-mir-27b-3p (MIRT727490)
- hsa-mir-27a-3p (MIRT727491)
miRNA Products
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Flow Cytometry 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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0016589 | NURF complex | IDA | 20850016 |
Pathways & Interactions for HMGXB4 Gene
No Data Available
Interacting Proteins for HMGXB4 Gene
Selected Interacting proteins:
ENSP00000216106
Q9UGU5-HMGX4_HUMAN
for HMGXB4 Gene via
STRING
IID
MINT
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for HMGXB4 Gene
Transcripts for HMGXB4 Gene
mRNA/cDNA for HMGXB4 Gene
- (6) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (224) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HMGXB4 Gene
CRISPR Products
-
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-
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Flow Cytometry Products
| 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: |
Expression for HMGXB4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
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
NURSA nuclear receptor signaling pathways regulating expression of HMGXB4 Gene:
HMGXB4SOURCE GeneReport for Unigene cluster for HMGXB4 Gene:
Hs.588815Evidence on tissue expression from TISSUES for HMGXB4 Gene
- Liver(4.4)
Primer Products
-
OriGene qPCR primer pairs for HMGXB4
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HMGXB4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HMGXB4 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HMGXB4 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hmgxb4 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hmgxb4 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HMGXB4 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HMGXB4 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HMGXB4 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HMGXB4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hmgxb4 34 |
|
||
| Str.822 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | HMG2L1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hmgxb4a 35 |
|
OneToMany | |
| hmgxb4b 35 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6678 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4617 35 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.702 35 |
|
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)
Paralogs for HMGXB4 Gene
No data available for Paralogs for HMGXB4 Gene
Variants for HMGXB4 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000117191 | -- | 35,282,452(+) | TACCC(C/G)ACCCG | intron-variant | |
| rs1000125106 | -- | 35,278,642(+) | ATGTA(-/T)TTTTT | intron-variant | |
| rs1000184578 | -- | 35,283,895(+) | CTATG(G/T)ATTCA | intron-variant | |
| rs1000205825 | -- | 35,288,781(+) | AGTTC(A/G)AGACT | intron-variant | |
| rs1000365778 | -- | 35,259,816(+) | TTATT(G/T)AATCC | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2170801 | CNV | deletion | 18987734 |
| nsv1136672 | CNV | deletion | 24896259 |
| nsv588948 | CNV | loss | 21841781 |
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)
Relevant External Links 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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spherocytosis, type 4 |
|
|
Search HMGXB4 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HMGXB4
No data available for UniProtKB/Swiss-Prot and Genatlas for HMGXB4 Gene
Publications for HMGXB4 Gene
- The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
- 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 J.P. (Genomics 1999) 2 3 4 64
- Repression of smooth muscle differentiation by a novel high mobility group box-containing protein, HMG2L1. (PMID: 20511232) Zhou J. … Wang X. (J. Biol. Chem. 2010) 2 3 64
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
- Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins J.E. … Dunham I. (Genome Res. 2003) 3 4 64
Products for HMGXB4 Gene
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HMGXB4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
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