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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 61

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. 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.

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

Genomics for ASPHD2 Gene

Regulatory Elements for ASPHD2 Gene

Enhancers for ASPHD2 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
GH22F026435 0.5 ENCODE 40.5 +7.7 7716 2.1 BCOR ZNF341 ZMYM3 EGR2 ASPHD2 TFIP11 HPS4
GH22F026478 0.4 ENCODE 33.5 +53.2 53211 7.5 HDGF MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 TFIP11 ASPHD2 SRRD LINC01638 RPL15P22 HPS4
GH22F026499 0.4 ENCODE 30.1 +71.2 71204 2.4 CTCF TBL1XR1 TAL1 JUN ZFHX2 NCOR1 POLR2A TRIM24 FOSL2 EGR2 ASPHD2 SRRD PIR44830 TFIP11
GH22F026461 1.3 FANTOM5 ENCODE 16.5 +33.9 33906 3.7 CTCF ESRRA TEAD4 CEBPG ZIC2 RAD21 ZNF316 ZNF143 SMC3 NR2F6 SRRD ASPHD2 HPS4 TPST2
GH22F026416 0.6 Ensembl ENCODE 16.2 -12.2 -12225 1.1 JUN CEBPB REST JUND ATF3 STAT3 FOSL2 FOS ZNF600 ZNF24 SRRD ASPHD2 HPS4 LOC100507599 LOC646216 RNA5SP495
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ASPHD2 on UCSC Golden Path with GeneCards custom track

Promoters for ASPHD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000616186 -173 1801 HDGF PKNOX1 ZNF76 SIN3A KLF17 ZNF2 ZBTB40 ZNF366 ZNF143 ETV6

Genomic Location for ASPHD2 Gene

Chromosome:
22
Start:
26,429,273 bp from pter
End:
26,445,015 bp from pter
Size:
15,743 bases
Orientation:
Plus strand

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 Asn 211
  • Modification sites at PhosphoSitePlus

Other Protein References for ASPHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ASPHD2 Gene

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

No data available for Gene Families for ASPHD2 Gene

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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for ASPHD2 Gene COMPARTMENTS Subcellular localization image for ASPHD2 gene
Compartment Confidence
cytosol 2
golgi apparatus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ASPHD2 Gene

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

Pathways & Interactions for ASPHD2 Gene

SuperPathways for ASPHD2 Gene

No Data Available

Interacting Proteins for ASPHD2 Gene

Selected Interacting proteins: Q6ICH7-ASPH2_HUMAN for ASPHD2 Gene via IID

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with ASPHD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia ASPHD2 34 35
  • 92.5 (n)
cow
(Bos Taurus)
Mammalia ASPHD2 34 35
  • 89.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ASPHD2 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asphd2 34 16 35
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Asphd2 34
  • 87.76 (n)
chicken
(Gallus gallus)
Aves ASPHD2 34 35
  • 84.06 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia asphd2 34
  • 72.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6340 34
zebrafish
(Danio rerio)
Actinopterygii asphd2 34 35
  • 67.57 (n)
Dr.17168 34
fruit fly
(Drosophila melanogaster)
Insecta Asph 35
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K09A9.6 35
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000815 -- 26,435,111(-) aaggc(C/T)gtcta intron-variant
rs1046453 -- 26,444,511(+) ATAGC(C/T)TGTGT utr-variant-3-prime
rs10536042 -- 26,436,844(+) TGTGT(-/GT/TG)AAAAC intron-variant
rs11090442 -- 26,440,154(+) GCCAC(A/G)GTGGC intron-variant
rs111283849 -- 26,429,384(+) CAGCC(A/G)GGCGG utr-variant-5-prime

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)

Relevant External Links 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

Relevant External Links for ASPHD2

Genetic Association Database (GAD)
ASPHD2
Human Genome Epidemiology (HuGE) Navigator
ASPHD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASPHD2

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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4 64

Products for ASPHD2 Gene

Sources for ASPHD2 Gene

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