Aliases for ADGB Gene

Aliases for ADGB Gene

  • Androglobin 2 3 4 5
  • Calpain-7-Like Protein 3 4
  • C6orf103 3 4
  • CAPN16 2 3
  • Chromosome 6 Open Reading Frame 103 2
  • DJ408K24.1 2
  • FLJ23121 2
  • CAPN7L 4
  • ADGB 5

External Ids for ADGB Gene

Previous HGNC Symbols for ADGB Gene

  • C6orf103

Previous GeneCards Identifiers for ADGB Gene

  • GC06P146920

Summaries for ADGB Gene

GeneCards Summary for ADGB Gene

ADGB (Androglobin) is a Protein Coding gene. Diseases associated with ADGB include Nuclear Senile Cataract. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is CAPN15.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADGB Gene

Genomics for ADGB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADGB 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
GH06J146598 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.0 33 1.2 RFX1 PATZ1 RFX3 KLF9 SP2 EGR1 BMI1 ZBTB26 ZBTB17 ZFHX2 ADGB LOC101928661 ENSG00000273719 STXBP5
GH06J146542 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.9 -53.7 -53682 5 CEBPG CREB1 CTCF ZBTB33 ATF7 ZNF629 TFE3 ZNF512 ZNF692 ZHX2 RAB32 SHPRH LOC101928661 ADGB HSALNG0054141
GH06J146771 Promoter/Enhancer 1.1 Ensembl ENCODE 15.8 +172.1 172055 1.2 RFX1 LEF1 ETV6 ZNF24 NR2C1 HDAC1 SOX6 EP300 MGA CBX3 LOC105378040 ADGB RF00017-5828 LOC105378041 RF00017-5829 STXBP5
GH06J146912 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.8 +316.0 316024 5 TEAD4 PRDM10 ZNF629 ZNF512 LEF1 IKZF1 ZNF692 JUND PRDM1 MTA2 STXBP5-AS1 SHPRH ADGB STXBP5 RAB32 lnc-ADGB-3 lnc-ADGB-4 ENSG00000272397 RF00017-5829
GH06J146548 Enhancer 1.1 FANTOM5 ENCODE 10.9 -50.0 -49971 0.2 LEF1 IKZF1 JUND DDX20 MTA2 ZNF24 MTA1 NR2C1 BRD9 DPF2 ADGB LOC101928661 HSALNG0054141 RAB32
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for ADGB Gene

Genomic Locations for ADGB Gene
chr6:146,598,967-146,815,462
(GRCh38/hg38)
Size:
216,496 bases
Orientation:
Plus strand
chr6:146,920,101-147,136,598
(GRCh37/hg19)
Size:
216,498 bases
Orientation:
Plus strand

Genomic View for ADGB Gene

Genes around ADGB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ADGB Gene

Proteins for ADGB Gene

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

    Protein Symbol:
    Q8N7X0-ADGB_HUMAN
    Recommended name:
    Androglobin
    Protein Accession:
    Q8N7X0
    Secondary Accessions:
    • Q5T402
    • Q5T904
    • Q5T905

    Protein attributes for ADGB Gene

    Size:
    1667 amino acids
    Molecular mass:
    189713 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AL832192; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AL832192; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAI16490.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20488.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=DN831198; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ADGB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGB Gene

Post-translational modifications for ADGB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADGB Gene

Domains & Families for ADGB Gene

Gene Families for ADGB Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ADGB Gene

Suggested Antigen Peptide Sequences for ADGB Gene

GenScript: Design optimal peptide antigens:
  • Calpain-7-like protein (CAN7L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N7X0

UniProtKB/Swiss-Prot:

ADGB_HUMAN :
  • Belongs to the peptidase C2 family.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with ADGB: view

Function for ADGB Gene

Phenotypes From GWAS Catalog for ADGB Gene

Gene Ontology (GO) - Molecular Function for ADGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA --
GO:0005515 protein binding IEA --
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with ADGB: view

Phenotypes for ADGB Gene

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

Animal Model Products

CRISPR Products

miRNA for ADGB Gene

miRTarBase miRNAs that target ADGB

Inhibitory RNA Products

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADGB Gene

Localization for ADGB 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 ADGB gene
Compartment Confidence
mitochondrion 4
nucleus 4
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (1)
  • Nucleoplasm (1)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ADGB Gene

Pathways & Interactions for ADGB Gene

PathCards logo

SuperPathways for ADGB Gene

No Data Available

Interacting Proteins for ADGB Gene

Gene Ontology (GO) - Biological Process for ADGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ADGB: view

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

Drugs & Compounds for ADGB Gene

No Compound Related Data Available

Transcripts for ADGB Gene

mRNA/cDNA for ADGB Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
12 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 ADGB

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns: 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30 ^ 31 ^ 32
SP1:
SP2: - -
SP3:
SP4:
SP5: -

Relevant External Links for ADGB Gene

GeneLoc Exon Structure for
ADGB

Expression for ADGB Gene

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

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

This gene is overexpressed in Testis (x22.5) and Fallopian Tube (x6.7).

Protein differential expression in normal tissues from HIPED for ADGB Gene

This gene is overexpressed in Blymphocyte (26.7), Plasma (18.6), CD4 Tcells (14.8), and Breast (6.1).

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



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

SOURCE GeneReport for Unigene cluster for ADGB Gene:

Hs.720870

Evidence on tissue expression from TISSUES for ADGB Gene

  • Nervous system(2.7)
  • Kidney(2.4)
  • Blood(2.4)
  • Muscle(2.4)
  • Heart(2.3)
  • Eye(2.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with ADGB: view

Primer Products

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

Orthologs for ADGB Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADGB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC472148 30
  • 98.63 (n)
ADGB 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ADGB 30 31
  • 85.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADGB 30 31
  • 84.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adgb 30
  • 78.2 (n)
Mouse
(Mus musculus)
Mammalia Adgb 30 17 31
  • 78.16 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ADGB 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C3H6ORF103 30
  • 61.62 (n)
ADGB 31
  • 48 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADGB 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adgb 30
  • 59.12 (n)
Zebrafish
(Danio rerio)
Actinopterygii adgb 30 31
  • 54.99 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToOne
Species where no ortholog for ADGB 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ADGB Gene

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

Paralogs for ADGB Gene

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

Variants for ADGB Gene

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

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1052445 - p.Thr1637Ala
rs9497606 - p.Ile310Thr

Additional dbSNP identifiers (rs#s) for ADGB Gene

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

Variant ID Type Subtype PubMed ID
dgv1022e201 CNV deletion 23290073
esv1011004 CNV deletion 20482838
esv2045633 CNV deletion 18987734
esv2159904 CNV deletion 18987734
esv2451551 CNV deletion 19546169
esv2518343 CNV deletion 19546169
esv2596411 CNV deletion 19546169
esv2665277 CNV deletion 23128226
esv2674520 CNV deletion 23128226
esv2732834 CNV deletion 23290073
esv2732835 CNV deletion 23290073
esv2732836 CNV deletion 23290073
esv2732837 CNV deletion 23290073
esv2732838 CNV deletion 23290073
esv2732839 CNV deletion 23290073
esv2762619 CNV loss 21179565
esv3422508 CNV insertion 20981092
esv3611157 CNV loss 21293372
esv3611158 CNV gain 21293372
nsv1032168 CNV loss 25217958
nsv1118001 CNV deletion 24896259
nsv349025 CNV deletion 16902084
nsv830838 CNV gain 17160897
nsv969453 CNV duplication 23825009
nsv981192 CNV duplication 23825009

Variation tolerance for ADGB Gene

Gene Damage Index Score: 10.76; 91.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADGB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADGB Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADGB Gene - From: DISEASES

Disorder Aliases PubMed IDs
nuclear senile cataract
  • senile nuclear cataract
- elite association - COSMIC cancer census association via MalaCards
Search ADGB in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ADGB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADGB Gene

Publications for ADGB Gene

  1. Androglobin: a chimeric globin in metazoans that is preferentially expressed in Mammalian testes. (PMID: 22115833) Hoogewijs D … Hankeln T (Molecular biology and evolution 2012) 2 3
  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 DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  4. Androglobin knockdown inhibits growth of glioma cell lines. (PMID: 24966926) Huang B … Hu ZL (International journal of clinical and experimental pathology 2014) 3
  5. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. (PMID: 22019778) Zhang F … Zhang X (Nature genetics 2011) 3

Products for ADGB Gene

Sources for ADGB Gene