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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
  • GC11M064952
  • GC11M064477
  • GC11M064458
  • GC11M064701
  • GC11M061028
  • GC11M064949
  • GC11M064958

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. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for GPHA2 Gene

Promoters and enhancers for GPHA2 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
GH11J064934 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 655.3 +2.6 2616 1.4 ELF3 ZSCAN4 ARID4B DMAP1 RAD21 ZNF48 ZNF614 THAP11 SP5 MXD4 GPHA2 BATF2 PPP2R5B
GH11J064970 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 15.4 -33.3 -33332 2.5 MEIS2 PKNOX1 TEAD4 MAX E2F1 CCNT2 GATA3 POLR2A VEZF1 FOSL2 MAJIN ARL2 GPHA2 SNX15 EHD1 EEF1A1P18 CCDC88B PPP2R5B CAPN1
GH11J064846 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +81.1 81079 20.6 ZFP64 DMAP1 IRF4 YY1 ZNF143 ZNF263 SP3 GLIS1 NBN NR2C1 EHD1 MEN1 SF1 PCNX3 KAT5 ZFPL1 ATG2A MAP4K2 RNASEH2C MIR192
GH11J064914 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.5 +21.1 21085 4.3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A ZNF2 YY1 POLR2B ATG2A PPP2R5B MEN1 SSSCA1-AS1 ZFPL1 TRMT112 PCNX3 SF1 ENSG00000257086 RNASEH2C
GH11J064968 Enhancer 0.5 ENCODE 4.9 -31.3 -31316 1.4 ZNF335 ZNF366 JUN SP7 EEF1A1P18 GPHA2 CAPN1 MAJIN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPHA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPHA2 gene promoter:
  • MEF-2A
  • aMEF-2
  • Nkx2-5
  • FOXD1
  • FOXC1
  • C/EBPalpha
  • CUTL1
  • E47
  • Pax-6
  • MyoD

Genomic Locations for GPHA2 Gene

Genomic Locations for GPHA2 Gene
chr11:64,934,471-64,938,132
(GRCh38/hg38)
Size:
3,662 bases
Orientation:
Minus strand
chr11:64,701,943-64,703,360
(GRCh37/hg19)
Size:
1,418 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

Gene Families for GPHA2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

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

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).

Phenotypes From GWAS Catalog for GPHA2 Gene

Gene Ontology (GO) - Molecular Function for GPHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 12045258
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

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,IDA --
genes like me logo Genes that share ontologies with GPHA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPHA2 Gene

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:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0010469 regulation of signaling receptor activity IEA --
GO:0030819 obsolete positive regulation of cAMP biosynthetic process IMP --
GO:1903955 positive regulation of protein targeting to mitochondrion IMP --
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:

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

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 33
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPHA2 34 33
  • 90.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpha2 33
  • 85.16 (n)
mouse
(Mus musculus)
Mammalia Gpha2 16 34 33
  • 82.55 (n)
oppossum
(Monodelphis domestica)
Mammalia GPHA2 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPA2 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpha2 33
  • 70.3 (n)
zebrafish
(Danio rerio)
Actinopterygii gpha2 34 33
  • 63.3 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for GPHA2: view image

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 Variation AA Info Type
rs1000353818 -- 64,934,432(-) T/G downstream_transcript_variant
rs1000415684 -- 64,937,327(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000750255 -- 64,935,662(-) G/A intron_variant
rs1000782811 -- 64,935,288(-) G/A intron_variant
rs1002760181 -- 64,936,308(-) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information for GPHA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPHA2

SNP Genotyping and Copy Number Assay Products

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

Disorders for GPHA2 Gene

Additional Disease Information for GPHA2

No disorders were found for GPHA2 Gene.

No data available for MalaCards , 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 (Regulatory peptides 2008) 3 22 58
  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 (Regulatory peptides 2007) 3 22 58
  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 AJ (Endocrinology 2005) 3 22 58
  4. 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 58
  5. Thyrostimulin, a heterodimer of two new human glycoprotein hormone subunits, activates the thyroid-stimulating hormone receptor. (PMID: 12045258) Nakabayashi K … Hsueh AJ (The Journal of clinical investigation 2002) 3 4 58

Products for GPHA2 Gene

Sources for GPHA2 Gene

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