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Aliases for ASPHD2 Gene

Aliases for ASPHD2 Gene

  • Aspartate Beta-Hydroxylase Domain Containing 2 2 3 5
  • EC 1.14.11.- 4
  • EC 1.14.11 56

External Ids for ASPHD2 Gene

Previous GeneCards Identifiers for ASPHD2 Gene

  • GC22P025150
  • GC22P026825
  • GC22P009776

Summaries for ASPHD2 Gene

GeneCards Summary for ASPHD2 Gene

ASPHD2 (Aspartate Beta-Hydroxylase Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include dioxygenase activity. An important paralog of this gene is ASPHD1.

UniProtKB/Swiss-Prot for ASPHD2 Gene

  • May function as 2-oxoglutarate-dependent dioxygenase.

Additional gene information for ASPHD2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPHD2 Gene

Genomics for ASPHD2 Gene

GeneHancer (GH) Regulatory Elements for ASPHD2 Gene

Promoters and enhancers for ASPHD2 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
GH22I026427 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 559.9 -0.1 -107 2.6 HDGF PKNOX1 ZNF2 IRF4 ZNF143 ATF7 RUNX3 SP3 GLIS1 NBN ASPHD2 MIATNB RPL15P22 LINC01422 TFIP11 SRRD LOC100507599 LOC646216
GH22I026478 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.5 +53.2 53211 7.5 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF213 SRRD HPS4 TFIP11 ASPHD2
GH22I026511 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.6 +83.3 83257 2.4 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 TFIP11 LOC100507599 GC22P026531 PIR48052 PIR52665 ASPHD2
GH22I026499 Enhancer 0.7 ENCODE 30.1 +71.2 71203 2.4 MEIS2 JUN TEAD4 FOSL1 TCF12 FOXK2 NCOR1 CBFA2T2 TRIM24 SOX6 PIR44830 ASPHD2 SRRD TFIP11
GH22I026435 Enhancer 0.5 ENCODE 40.5 +7.7 7715 2.1 BCOR ZNF341 ZMYM3 FOXA1 ASPHD2 TFIP11 HPS4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASPHD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASPHD2 gene promoter:

Genomic Locations for ASPHD2 Gene

Genomic Locations for ASPHD2 Gene
chr22:26,429,273-26,445,015
(GRCh38/hg38)
Size:
15,743 bases
Orientation:
Plus strand
chr22:26,825,239-26,840,981
(GRCh37/hg19)

Genomic View for ASPHD2 Gene

Genes around ASPHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASPHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASPHD2 Gene

Proteins for ASPHD2 Gene

  • Protein details for ASPHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ICH7-ASPH2_HUMAN
    Recommended name:
    Aspartate beta-hydroxylase domain-containing protein 2
    Protein Accession:
    Q6ICH7
    Secondary Accessions:
    • B2RCH3
    • Q7L0W3
    • Q9NSN3

    Protein attributes for ASPHD2 Gene

    Size:
    369 amino acids
    Molecular mass:
    41699 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH36753.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG37570.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for ASPHD2 Gene

Selected DME Specific Peptides for ASPHD2 Gene

Q6ICH7:
  • EDGPRVVF
  • VDLWHPNVA
  • AERQALDF
  • GCELVVGGEPQCWAEG
  • RCHLGLK

Post-translational modifications for ASPHD2 Gene

  • Glycosylation at posLast=211211
  • Modification sites at PhosphoSitePlus

Other Protein References for ASPHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ASPHD2 Gene

Gene Families for ASPHD2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ASPHD2 Gene

Suggested Antigen Peptide Sequences for ASPHD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ICH7

UniProtKB/Swiss-Prot:

ASPH2_HUMAN :
  • Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
Family:
  • Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
genes like me logo Genes that share domains with ASPHD2: view

Function for ASPHD2 Gene

Molecular function for ASPHD2 Gene

UniProtKB/Swiss-Prot Function:
May function as 2-oxoglutarate-dependent dioxygenase.

Enzyme Numbers (IUBMB) for ASPHD2 Gene

Phenotypes From GWAS Catalog for ASPHD2 Gene

Gene Ontology (GO) - Molecular Function for ASPHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with ASPHD2: view
genes like me logo Genes that share phenotypes with ASPHD2: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASPHD2 Gene

Localization for ASPHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPHD2 Gene

Membrane; Single-pass type II membrane protein.

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 ASPHD2 gene
Compartment Confidence
cytosol 2
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ASPHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASPHD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASPHD2 Gene

Pathways & Interactions for ASPHD2 Gene

SuperPathways for ASPHD2 Gene

No Data Available

Interacting Proteins for ASPHD2 Gene

Gene Ontology (GO) - Biological Process for ASPHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018193 peptidyl-amino acid modification IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ASPHD2: view

No data available for Pathways by source and SIGNOR curated interactions for ASPHD2 Gene

Drugs & Compounds for ASPHD2 Gene

No Compound Related Data Available

Transcripts for ASPHD2 Gene

mRNA/cDNA for ASPHD2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASPHD2 Gene

Aspartate beta-hydroxylase domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASPHD2 Gene

No ASD Table

Relevant External Links for ASPHD2 Gene

GeneLoc Exon Structure for
ASPHD2
ECgene alternative splicing isoforms for
ASPHD2

Expression for ASPHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASPHD2 Gene

mRNA differential expression in normal tissues according to GTEx for ASPHD2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.3) and Brain - Cerebellar Hemisphere (x4.7).

Protein differential expression in normal tissues from HIPED for ASPHD2 Gene

This gene is overexpressed in Bone (28.1), Lung (26.4), and Frontal cortex (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASPHD2 Gene



Protein tissue co-expression partners for ASPHD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASPHD2 Gene:

ASPHD2

SOURCE GeneReport for Unigene cluster for ASPHD2 Gene:

Hs.567547

Evidence on tissue expression from TISSUES for ASPHD2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ASPHD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPHD2 Gene

Orthologs for ASPHD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPHD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASPHD2 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia ASPHD2 33 34
  • 92.5 (n)
cow
(Bos Taurus)
Mammalia ASPHD2 33 34
  • 89.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ASPHD2 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asphd2 33 16 34
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Asphd2 33
  • 87.76 (n)
chicken
(Gallus gallus)
Aves ASPHD2 33 34
  • 84.06 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia asphd2 33
  • 72.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6340 33
zebrafish
(Danio rerio)
Actinopterygii asphd2 33 34
  • 67.57 (n)
Dr.17168 33
fruit fly
(Drosophila melanogaster)
Insecta Asph 34
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K09A9.6 34
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for ASPHD2 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 ASPHD2 Gene

ENSEMBL:
Gene Tree for ASPHD2 (if available)
TreeFam:
Gene Tree for ASPHD2 (if available)

Paralogs for ASPHD2 Gene

Paralogs for ASPHD2 Gene

(1) SIMAP similar genes for ASPHD2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASPHD2: view

Variants for ASPHD2 Gene

Sequence variations from dbSNP and Humsavar for ASPHD2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000141094 -- 26,434,730(+) C/T intron_variant
rs1000348336 -- 26,428,802(+) C/A upstream_transcript_variant
rs1000624254 -- 26,435,110(+) C/T intron_variant
rs1000815 -- 26,435,111(+) A/G intron_variant
rs1001396242 -- 26,440,934(+) GTGT/GT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASPHD2 Gene

Variant ID Type Subtype PubMed ID
esv999415 CNV loss 20482838
nsv7350 OTHER inversion 18451855

Variation tolerance for ASPHD2 Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPHD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPHD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPHD2 Gene

Disorders for ASPHD2 Gene

Additional Disease Information for ASPHD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ASPHD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASPHD2 Gene

Publications for ASPHD2 Gene

  1. 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 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  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 58
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 58

Products for ASPHD2 Gene

Sources for ASPHD2 Gene

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