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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
  • Glycoprotein Hormone Alpha-2 3
  • 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. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. GO annotations related to this gene include hormone activity.

UniProtKB/Swiss-Prot for GPHA2 Gene

  • Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production (PubMed:12045258). Plays a central role in controlling thyroid cell metabolism (PubMed:12045258).

Gene Wiki entry for GPHA2 Gene

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

Genomics for GPHA2 Gene

Regulatory Elements for GPHA2 Gene

Enhancers for GPHA2 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
GH11G064846 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +81.1 81079 20.6 CREB3L1 ZFP64 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 TBX21 GLIS1 EHD1 MAP4K2 SNX15 MIR192 MEN1 KAT5 SSSCA1-AS1 MAJIN GPHA2 ENSG00000269038
GH11G064970 0.9 ENCODE 15.4 -33.3 -33332 2.5 PKNOX1 CBX3 CREB3L1 AGO1 FOS ZBTB2 ZNF592 TFDP1 ZNF579 NFIC ARL2 GPHA2 SSSCA1-AS1 SNX15 RNASEH2C EHD1 ENSG00000269038 TRMT112 EEF1A1P18 CCDC88B
GH11G064934 1.1 Ensembl ENCODE 5.3 +2.6 2616 1.4 ELF3 TBP ZSCAN4 ARID4B DMAP1 RAD21 ZNF48 THAP11 SP5 MXD4 GPHA2 BATF2 PPP2R5B
GH11G064914 1.1 ENCODE 4.5 +21.1 21085 4.3 HDGF PKNOX1 FOXA2 MLX ZFP64 WRNIP1 ARID4B SIN3A ZNF2 YY1 SPDYC ARL2 GPHA2 POLA2 ATG2A MIR6749
GH11G064968 0.6 ENCODE 4.9 -31.3 -31316 1.4 ATF3 ZNF366 JUN DPF2 FOS SP7 EEF1A1P18 GPHA2 CAPN1 MAJIN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPHA2 on UCSC Golden Path with GeneCards custom track

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; this heterodimer interacts with thyroid-stimulating hormone receptor (TSHR), and hence stimulates cAMP production.

neXtProt entry for GPHA2 Gene

Post-translational modifications for GPHA2 Gene

Other Protein References for GPHA2 Gene

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:
Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production (PubMed:12045258). Plays a central role in controlling thyroid cell metabolism (PubMed:12045258).

Gene Ontology (GO) - Molecular Function for GPHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0031531 thyrotropin-releasing hormone receptor binding IMP 12045258
GO:0046982 protein heterodimerization activity IDA 12045258
genes like me logo Genes that share ontologies with GPHA2: view
genes like me logo Genes that share phenotypes with GPHA2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GPHA2

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 GPHA2 gene
Compartment Confidence
extracellular 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GPHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with GPHA2: view

Pathways & Interactions for GPHA2 Gene

genes like me logo Genes that share pathways with GPHA2: view

SIGNOR curated interactions for GPHA2 Gene

Activates:

Gene Ontology (GO) - Biological Process for GPHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IMP 12045258
GO:0030819 positive regulation of cAMP biosynthetic process IMP 12045258
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with GPHA2: view

Drugs & Compounds for GPHA2 Gene

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of GPHA2 Gene:

GPHA2

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.

Evidence on tissue expression from TISSUES for GPHA2 Gene

  • Nervous system(4.2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with GPHA2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GPHA2 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia GPHA2 34 35
  • 90.18 (n)
rat
(Rattus norvegicus)
Mammalia LOC100909513 34
  • 85.16 (n)
mouse
(Mus musculus)
Mammalia Gpha2 34 16 35
  • 82.55 (n)
oppossum
(Monodelphis domestica)
Mammalia GPHA2 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPA2 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpha2 34
  • 70.3 (n)
zebrafish
(Danio rerio)
Actinopterygii gpha2 34 35
  • 63.3 (n)
Species where no ortholog for GPHA2 was found in the sources mined by GeneCards:
  • 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
rs1000353818 -- 64,934,432(+) ACTCC(G/T)CTTTC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000415684 -- 64,937,327(+) AGGGC(A/G)GGCAC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000750255 -- 64,935,662(+) CTCTG(A/G)AAAGG intron-variant
rs1000782811 -- 64,935,288(+) CCACC(A/G)TCCAC intron-variant
rs1002760181 -- 64,936,308(+) GGTCT(G/T)GCTCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680
nsv555208 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • atrophia bulborum hereditaria
- 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. 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 22 64
  2. 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 22 64
  3. 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 22 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. Activation of orphan receptors by the hormone relaxin. (PMID: 11809971) Hsu S.Y. … Hsueh A.J.W. (Science 2002) 2 3 64

Products for GPHA2 Gene

Sources for GPHA2 Gene

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