Aliases for ASPHD2 Gene

Aliases for ASPHD2 Gene

  • Aspartate Beta-Hydroxylase Domain Containing 2 2 3 5
  • Aspartate Beta-Hydroxylase Domain-Containing Protein 2 3 4
  • EC 1.14.11.- 4
  • EC 1.14.11 51
  • FLJ39838 2
  • ASPHD2 5

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 Summary for ASPHD2 Gene

Additional gene information for ASPHD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASPHD2 Gene

Genomics for ASPHD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASPHD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASPHD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASPHD2

Top Transcription factor binding sites by QIAGEN in the ASPHD2 gene promoter:
  • C/EBPalpha
  • GATA-1
  • HEN1
  • Ik-2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4

Genomic Locations for ASPHD2 Gene

Genomic Locations for ASPHD2 Gene
chr22:26,429,260-26,445,015
(GRCh38/hg38)
Size:
15,756 bases
Orientation:
Plus strand
chr22:26,825,239-26,840,981
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG37570.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Asn211
  • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASPHD2 Gene

GenScript: Design optimal peptide antigens:
  • Aspartate beta-hydroxylase domain-containing protein 2 (ASPH2_HUMAN)

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPHD2

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
golgi apparatus 2
extracellular 1
nucleus 1
cytosol 1
plasma membrane 0
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for ASPHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,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

PathCards logo

SuperPathways for ASPHD2 Gene

No Data Available

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPHD2

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

No ASD Table

Relevant External Links for ASPHD2 Gene

GeneLoc Exon Structure 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASPHD2

SOURCE GeneReport for Unigene cluster for ASPHD2 Gene:

Hs.567547

Evidence on tissue expression from TISSUES for ASPHD2 Gene

  • Nervous system(4.5)
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 30 31
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASPHD2 30 31
  • 92.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASPHD2 30 31
  • 89.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASPHD2 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Asphd2 30 17 31
  • 88.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asphd2 30
  • 87.76 (n)
Chicken
(Gallus gallus)
Aves ASPHD2 30 31
  • 84.06 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asphd2 30
  • 72.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6340 30
Zebrafish
(Danio rerio)
Actinopterygii asphd2 30 31
  • 67.57 (n)
OneToOne
Dr.17168 30
Fruit Fly
(Drosophila melanogaster)
Insecta Asph 31
  • 10 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K09A9.6 31
  • 7 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToMany
Species where no ortholog for ASPHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ASPHD2: view image

Paralogs for ASPHD2 Gene

Paralogs for ASPHD2 Gene

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

  • ASPH2_HUMAN
genes like me logo Genes that share paralogs with ASPHD2: view

Variants for ASPHD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASPHD2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs34902186 - p.Asn235Ser

Additional dbSNP identifiers (rs#s) for ASPHD2 Gene

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
Open Targets Platform

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 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4

Products for ASPHD2 Gene

Sources for ASPHD2 Gene