This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta ... See more...

Aliases for ASXL3 Gene

Aliases for ASXL3 Gene

  • ASXL Transcriptional Regulator 3 2 3 5
  • KIAA1713 2 3 4
  • Additional Sex Combs Like 3, Transcriptional Regulator 2 3
  • Putative Polycomb Group Protein ASXL3 3 4
  • Additional Sex Combs-Like Protein 3 3 4
  • Additional Sex Combs Like Transcriptional Regulator 3 3
  • Additional Sex Combs Like 3 (Drosophila) 2
  • ASXL3 5
  • BRPS 3

External Ids for ASXL3 Gene

Previous HGNC Symbols for ASXL3 Gene

  • KIAA1713

Previous GeneCards Identifiers for ASXL3 Gene

  • GC18P029413
  • GC18P031158
  • GC18P028018

Summaries for ASXL3 Gene

Entrez Gene Summary for ASXL3 Gene

  • This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]

GeneCards Summary for ASXL3 Gene

ASXL3 (ASXL Transcriptional Regulator 3) is a Protein Coding gene. Diseases associated with ASXL3 include Bainbridge-Ropers Syndrome and Alacrima, Achalasia, And Mental Retardation Syndrome. An important paralog of this gene is ASXL2.

UniProtKB/Swiss-Prot Summary for ASXL3 Gene

  • Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASXL3 Gene

Genomics for ASXL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASXL3 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
GH18J033577 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 250.7 +1.2 1218 5.2 ZSCAN16 ZBTB10 FEZF1 ZEB1 ZIC2 ZNF610 ZNF513 ZNF639 KLF7 ZNF341 ASXL3 ENSG00000267642 HSALNG0120815 lnc-NOL4-3 NOL4
GH18J033600 Enhancer 0.3 Ensembl 11.8 +22.7 22682 0.6 PRDM6 TRIM28 ASXL3 HSALNG0120815 lnc-NOL4-3 NOL4
GH18J033575 Enhancer 0.3 Ensembl 0.7 -2.3 -2319 1.4 SCRT1 MZF1 ASXL3 ENSG00000267642 HSALNG0120814 CCDC178
GH18J033584 Enhancer 0.5 Ensembl 0.4 +6.8 6781 2 SP1 PKNOX1 NANOG ZNF558 PRDM10 ZBTB20 PRDM1 ZNF10 ASXL3 HSALNG0120815 lnc-NOL4-3 NOL4
GH18J033595 Enhancer 0.6 Ensembl ENCODE 0.4 +18.2 18248 1.3 ZNF366 FOS ZNF335 ASXL3 HSALNG0120815 lnc-NOL4-3 NOL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASXL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASXL3

Top Transcription factor binding sites by QIAGEN in the ASXL3 gene promoter:
  • C/EBPalpha
  • FOXI1
  • GR
  • GR-alpha
  • GR-beta
  • HFH-3
  • Hlf
  • RSRFC4

Genomic Locations for ASXL3 Gene

Latest Assembly
chr18:33,578,219-33,751,195
(GRCh38/hg38)
Size:
172,977 bases
Orientation:
Plus strand

Previous Assembly
chr18:31,158,183-31,331,159
(GRCh37/hg19 by Entrez Gene)
Size:
172,977 bases
Orientation:
Plus strand

chr18:31,158,579-31,331,156
(GRCh37/hg19 by Ensembl)
Size:
172,578 bases
Orientation:
Plus strand

Genomic View for ASXL3 Gene

Genes around ASXL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASXL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASXL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASXL3 Gene

Proteins for ASXL3 Gene

  • Protein details for ASXL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0F0-ASXL3_HUMAN
    Recommended name:
    Putative Polycomb group protein ASXL3
    Protein Accession:
    Q9C0F0
    Secondary Accessions:
    • Q6ZMX6
    • Q96MU3
    • Q9UFC5

    Protein attributes for ASXL3 Gene

    Size:
    2248 amino acids
    Molecular mass:
    241919 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71186.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD18599.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB61377.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for ASXL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASXL3 Gene

Post-translational modifications for ASXL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ASXL3 Gene

Domains & Families for ASXL3 Gene

Gene Families for ASXL3 Gene

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

Protein Domains for ASXL3 Gene

Suggested Antigen Peptide Sequences for ASXL3 Gene

GenScript: Design optimal peptide antigens:
  • Additional sex combs-like protein 3 (ASXL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9C0F0

UniProtKB/Swiss-Prot:

ASXL3_HUMAN :
  • Belongs to the Asx family.
Family:
  • Belongs to the Asx family.
genes like me logo Genes that share domains with ASXL3: view

Function for ASXL3 Gene

Molecular function for ASXL3 Gene

UniProtKB/Swiss-Prot Function:
Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).

Phenotypes From GWAS Catalog for ASXL3 Gene

Gene Ontology (GO) - Molecular Function for ASXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
GO:0042975 peroxisome proliferator activated receptor binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASXL3: view

Phenotypes for ASXL3 Gene

genes like me logo Genes that share phenotypes with ASXL3: view

Human Phenotype Ontology for ASXL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASXL3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ASXL3 Gene

Localization for ASXL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASXL3 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 ASXL3 gene
Compartment Confidence
nucleus 4
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0035517 PR-DUB complex IBA 21873635
genes like me logo Genes that share ontologies with ASXL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASXL3 Gene

Pathways & Interactions for ASXL3 Gene

PathCards logo

SuperPathways for ASXL3 Gene

No Data Available

Interacting Proteins for ASXL3 Gene

Gene Ontology (GO) - Biological Process for ASXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009887 animal organ morphogenesis IBA 21873635
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
GO:0051055 negative regulation of lipid biosynthetic process IDA 25450400
genes like me logo Genes that share ontologies with ASXL3: view

No data available for Pathways by source and SIGNOR curated interactions for ASXL3 Gene

Drugs & Compounds for ASXL3 Gene

No Compound Related Data Available

Transcripts for ASXL3 Gene

mRNA/cDNA for ASXL3 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASXL3

Alternative Splicing Database (ASD) splice patterns (SP) for ASXL3 Gene

No ASD Table

Relevant External Links for ASXL3 Gene

GeneLoc Exon Structure for
ASXL3

Expression for ASXL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASXL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASXL3 Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for ASXL3 Gene

This gene is overexpressed in Bone (33.5), Liver, secretome (18.6), and Pancreatic juice (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASXL3 Gene



Protein tissue co-expression partners for ASXL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASXL3

SOURCE GeneReport for Unigene cluster for ASXL3 Gene:

Hs.464876

mRNA Expression by UniProt/SwissProt for ASXL3 Gene:

Q9C0F0-ASXL3_HUMAN
Tissue specificity: Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor.

Evidence on tissue expression from TISSUES for ASXL3 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASXL3 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • nose
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with ASXL3: view

Primer products for research

Orthologs for ASXL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASXL3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASXL3 30 31
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASXL3 30 31
  • 89.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASXL3 30 31
  • 85.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Asxl3 30 17 31
  • 83.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASXL3 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASXL3 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASXL3 30 31
  • 75.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASXL3 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asxl3 30
  • 64.74 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Asx 31
  • 15 (a)
OneToMany
Species where no ortholog for ASXL3 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)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ASXL3 Gene

ENSEMBL:
Gene Tree for ASXL3 (if available)
TreeFam:
Gene Tree for ASXL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASXL3: view image

Paralogs for ASXL3 Gene

Paralogs for ASXL3 Gene

(1) SIMAP similar genes for ASXL3 Gene using alignment to 10 proteins:

  • ASXL3_HUMAN
  • K7EIX5_HUMAN
  • K7EJ76_HUMAN
  • K7EKI3_HUMAN
  • K7ELD7_HUMAN
  • K7ELG8_HUMAN
  • K7ELW2_HUMAN
  • K7EQ33_HUMAN
  • K7EQY1_HUMAN
  • K7ERH8_HUMAN
genes like me logo Genes that share paralogs with ASXL3: view

Variants for ASXL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASXL3 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
429913 Pathogenic/Likely Pathogenic: Bainbridge-Ropers syndrome; not provided 33,742,954(+) C/T
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NONSENSE
858551 Uncertain Significance: not provided 33,683,564(+) G/A
NM_030632.3(ASXL3):c.875G>A (p.Arg292Lys)
MISSENSE
870738 Uncertain Significance: not provided 33,732,029(+) A/G
NM_030632.3(ASXL3):c.941A>G (p.Tyr314Cys)
MISSENSE
870739 Uncertain Significance: not provided 33,744,186(+) G/T
NM_030632.3(ASXL3):c.4338G>T (p.Arg1446Ser)
MISSENSE
915370 Uncertain Significance: Bainbridge-Ropers syndrome 33,745,427(+) TCATCAGTTCCGG/T
NM_030632.3(ASXL3):c.5587_5598del (p.Ser1863_Ser1866del)
INFRAME_DELETION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASXL3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASXL3 Gene

Variant ID Type Subtype PubMed ID
esv2668525 CNV deletion 23128226
esv2762001 CNV gain 21179565
esv3642175 CNV gain 21293372
nsv131746 CNV insertion 16902084
nsv475661 CNV novel sequence insertion 20440878
nsv576643 CNV gain 21841781
nsv819880 CNV loss 19587683
nsv833618 CNV gain 17160897

Variation tolerance for ASXL3 Gene

Residual Variation Intolerance Score: 5.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASXL3 Gene

Human Gene Mutation Database (HGMD)
ASXL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASXL3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASXL3 Gene

Disorders for ASXL3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ASXL3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
bainbridge-ropers syndrome
  • brps
alacrima, achalasia, and mental retardation syndrome
  • aamr
disease of mental health
  • mental health
sleep disorder
  • non-organic sleep disorder
asxl3-related disorder
  • bainbridge-ropers syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ASXL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASXL3_HUMAN
  • Bainbridge-Ropers syndrome (BRPS) [MIM:615485]: A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. {ECO:0000269 PubMed:23383720}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ASXL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASXL3: view

No data available for Genatlas for ASXL3 Gene

Publications for ASXL3 Gene

  1. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. (PMID: 23383720) Bainbridge MN … Ropers HH (Genome medicine 2013) 3 4 74
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Identification and characterization of ASXL3 gene in silico. (PMID: 15138607) Katoh M … Katoh M (International journal of oncology 2004) 3 4

Products for ASXL3 Gene

Sources for ASXL3 Gene