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Aliases for GPHA2 Gene

Aliases for GPHA2 Gene

  • Glycoprotein Hormone Alpha 2 2 3 5
  • Putative Secreted Protein Zsig51 3 4
  • Thyrostimulin Subunit Alpha 3 4
  • Cysteine Knot Protein 2 3
  • Glycoprotein Alpha 2 2 3
  • ZSIG51 3 4
  • GPA2 3 4
  • A2 3

External Ids for GPHA2 Gene

Previous GeneCards Identifiers for GPHA2 Gene

  • GC11M067217
  • GC11M066383
  • GC11M064477
  • GC11M064458
  • GC11M064701
  • GC11M061028

Summaries for GPHA2 Gene

Entrez Gene Summary for GPHA2 Gene

  • GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]

GeneCards Summary for GPHA2 Gene

GPHA2 (Glycoprotein Hormone Alpha 2) is a Protein Coding gene. Diseases associated with GPHA2 include norrie disease. GO annotations related to this gene include hormone activity.

UniProtKB/Swiss-Prot for GPHA2 Gene

  • Stimulates the thyroid. Binds and activates THSR, leads to increased cAMP production.

Gene Wiki entry for GPHA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPHA2 Gene

Genomics for GPHA2 Gene

Regulatory Elements for GPHA2 Gene

Genomic Location for GPHA2 Gene

Chromosome:
11
Start:
64,934,471 bp from pter
End:
64,938,132 bp from pter
Size:
3,662 bases
Orientation:
Minus strand

Genomic View for GPHA2 Gene

Genes around GPHA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPHA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPHA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPHA2 Gene

Proteins for GPHA2 Gene

  • Protein details for GPHA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T91-GPHA2_HUMAN
    Recommended name:
    Glycoprotein hormone alpha-2
    Protein Accession:
    Q96T91
    Secondary Accessions:
    • Q52LE2

    Protein attributes for GPHA2 Gene

    Size:
    129 amino acids
    Molecular mass:
    14163 Da
    Quaternary structure:
    • Heterodimer with GPHB5.

neXtProt entry for GPHA2 Gene

Proteomics data for GPHA2 Gene at MOPED

Post-translational modifications for GPHA2 Gene

Other Protein References for GPHA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPHA2 Gene

Domains & Families for GPHA2 Gene

Suggested Antigen Peptide Sequences for GPHA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96T91

UniProtKB/Swiss-Prot:

GPHA2_HUMAN :
  • Belongs to the glycoprotein hormones subunit alpha family.
Family:
  • Belongs to the glycoprotein hormones subunit alpha family.
genes like me logo Genes that share domains with GPHA2: view

No data available for Gene Families for GPHA2 Gene

Function for GPHA2 Gene

Molecular function for GPHA2 Gene

UniProtKB/Swiss-Prot Function:
Stimulates the thyroid. Binds and activates THSR, leads to increased cAMP production.
genes like me logo Genes that share phenotypes with GPHA2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GPHA2

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPHA2 Gene

Localization for GPHA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPHA2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPHA2 Gene COMPARTMENTS Subcellular localization image for GPHA2 gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for GPHA2 Gene

Pathways & Interactions for GPHA2 Gene

SuperPathways for GPHA2 Gene

No Data Available

Interacting Proteins for GPHA2 Gene

SIGNOR curated interactions for GPHA2 Gene

Activates:

Gene Ontology (GO) - Biological Process for GPHA2 Gene

None

No data available for Pathways by source for GPHA2 Gene

Drugs & Compounds for GPHA2 Gene

(2) Drugs for GPHA2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with GPHA2: view

Transcripts for GPHA2 Gene

mRNA/cDNA for GPHA2 Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GPHA2 Gene

Glycoprotein hormone alpha 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GPHA2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b
SP1: -
SP2:

Relevant External Links for GPHA2 Gene

GeneLoc Exon Structure for
GPHA2
ECgene alternative splicing isoforms for
GPHA2

Expression for GPHA2 Gene

mRNA expression in normal human tissues for GPHA2 Gene

mRNA differential expression in normal tissues according to GTEx for GPHA2 Gene

This gene is overexpressed in Pancreas (x28.1), Pituitary (x14.4), and Testis (x5.2).

SOURCE GeneReport for Unigene cluster for GPHA2 Gene Hs.436119

mRNA Expression by UniProt/SwissProt for GPHA2 Gene

Q96T91-GPHA2_HUMAN
Tissue specificity: Found in a variety of tissues.
genes like me logo Genes that share expression patterns with GPHA2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GPHA2 Gene

Orthologs for GPHA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPHA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GPHA2 35
  • 90.18 (n)
  • 88.37 (a)
GPHA2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpha2 35
  • 82.55 (n)
  • 83.59 (a)
Gpha2 16
Gpha2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GPHA2 35
  • 100 (n)
  • 100 (a)
GPHA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpha2 35
  • 85.16 (n)
  • 85.94 (a)
oppossum
(Monodelphis domestica)
Mammalia GPHA2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPA2 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpha2 35
  • 70.3 (n)
  • 78.22 (a)
zebrafish
(Danio rerio)
Actinopterygii gpha2 35
  • 63.3 (n)
  • 60.55 (a)
gpha2 36
  • 55 (a)
OneToOne
Species with no ortholog for GPHA2:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 GPHA2 Gene

ENSEMBL:
Gene Tree for GPHA2 (if available)
TreeFam:
Gene Tree for GPHA2 (if available)

Paralogs for GPHA2 Gene

No data available for Paralogs for GPHA2 Gene

Variants for GPHA2 Gene

Sequence variations from dbSNP and Humsavar for GPHA2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs2307669 -- 64,935,293(-) GCTGA(-/CAGA)GTGGA intron-variant
rs2375087 -- 64,935,343(-) TCTGG(A/G)ACCGG intron-variant
rs11231905 -- 64,936,633(+) TTTCT(A/G)ACTGC intron-variant, upstream-variant-2KB
rs35005236 -- 64,936,755(+) TTTCA(C/G)AGTTG intron-variant, upstream-variant-2KB
rs17146506 -- 64,937,158(+) GGTCA(C/T)TGCCT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GPHA2 Gene

Variant ID Type Subtype PubMed ID
dgv1173n71 CNV Loss 21882294
nsv526181 CNV Gain 19592680

Variation tolerance for GPHA2 Gene

Residual Variation Intolerance Score: 68.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPHA2 Gene

HapMap Linkage Disequilibrium report
GPHA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPHA2 Gene

Disorders for GPHA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPHA2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
norrie disease
  • anderson-warburg syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GPHA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GPHA2

Human Genome Epidemiology (HuGE) Navigator
GPHA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPHA2
genes like me logo Genes that share disorders with GPHA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPHA2 Gene

Publications for GPHA2 Gene

  1. 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 67
  2. Biochemical roles of the oligosaccharide chains in thyrostimulin, a heterodimeric hormone of glycoprotein hormone subunits alpha 2 (GPA2) and beta 5 (GPB5). (PMID: 18433898) Okajima Y. … Oiso Y. (Regul. Pept. 2008) 3 23
  3. The LIM domain homeobox gene isl-1 is a positive regulator of glycoprotein alpha 2 (GPA2), a subunit of thyrostimulin. (PMID: 17363077) Suzuki C. … Oiso Y. (Regul. Pept. 2007) 3 23
  4. Heterodimeric fly glycoprotein hormone-alpha2 (GPA2) and glycoprotein hormone-beta5 (GPB5) activate fly leucine-rich repeat-containing G protein-coupled receptor-1 (DLGR1) and stimulation of human thyrotropin receptors by chimeric fly GPA2 and human GPB5. (PMID: 15890769) Sudo S. … Hsueh A.J. (Endocrinology 2005) 3 23
  5. Activation of orphan receptors by the hormone relaxin. (PMID: 11809971) Hsu S.Y. … Hsueh A.J.W. (Science 2002) 2 3

Products for GPHA2 Gene

Sources for GPHA2 Gene

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