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ASPHD2 Gene(Protein Coding)

Aspartate Beta-Hydroxylase Domain Containing 2

GCID:
GC22P026429
GIFtS:
47
Genes Participants
UDN Logo

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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPHD2 Gene

Genomics for ASPHD2 Gene

Products:

  1. Regulatory Element

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
GH22G026478 1.4 ENCODE dbSUPER 33.5 +53.2 53211 7.5 HDGF FOXA2 MLX ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 TFIP11 ASPHD2 SRRD HPS4
GH22G026499 0.8 ENCODE 30.1 +71.2 71204 2.4 CTCF TBL1XR1 TAL1 JUN ZNF664 FOSL1 TCF12 ZFHX2 NCOR1 FOXK2 ASPHD2 SRRD PIR44830 TFIP11
GH22G026461 1.3 FANTOM5 ENCODE dbSUPER 16.5 +33.9 33906 3.7 CTCF MXI1 ESRRA TEAD4 CEBPG ZIC2 RAD21 ZNF316 ZNF143 SMC3 SRRD ASPHD2 HPS4 TPST2
GH22G026435 0.5 ENCODE 40.5 +7.7 7716 2.1 BCOR ZNF341 ZMYM3 EGR2 FOXA1 ASPHD2 TFIP11 HPS4
GH22G026470 1.1 Ensembl ENCODE dbSUPER 15.8 +42.2 42162 2.7 TBP ZNF316 JUND JUN FOS MAFK ASPHD2 SRRD HPS4
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000144603 -73 1201 HDGF PKNOX1 SIN3A ZNF2 ZNF143 ZNF263 TBX21 SMARCA4 GLIS1 NBN

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

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 Structure • Gene Density

RefSeq DNA sequence for ASPHD2 Gene

Proteins for ASPHD2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ASPHD2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Protein Domains for ASPHD2 Gene

InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

CRISPR 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
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 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

PathCards logo More details on SuperPathways for ASPHD2
No Data Available

Interacting Proteins for ASPHD2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000215906%0d%0a9606.ENSP00000345719%0d%0a9606.ENSP00000320965%0d%0a
Selected Interacting proteins: Q6ICH7-ASPH2_HUMAN ENSP00000215906 for ASPHD2 Gene via IID STRING

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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ASPHD2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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:

CRISPR Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for ASPHD2 Gene
mRNA expression by GTEx 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

Primer Products

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 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
rs1000141094 -- 26,434,730(+) AAGAA(C/T)TTTCT intron-variant
rs1000348336 -- 26,428,802(+) CGGTT(A/C)CATTC upstream-variant-2KB
rs1000624254 -- 26,435,110(+) TTAGA(C/T)AGCCT intron-variant
rs1000815 -- 26,435,111(-) aaggc(C/T)gtcta intron-variant
rs1001396242 -- 26,440,934(+) TCAGA(-/GT)GTAGT 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)

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

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