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    GPHA2 glycoprotein hormone subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 170589, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GPHA2provided by HGNC
    Official Full Name
    glycoprotein hormone subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:18054
    See related
    Ensembl:ENSG00000149735 MIM:609651; AllianceGenome:HGNC:18054
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    A2; GPA2; ZSIG51
    Summary
    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]
    Expression
    Biased expression in pancreas (RPKM 14.6), testis (RPKM 3.2) and 2 other tissues See more
    Orthologs
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    Genomic context

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    See GPHA2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64934471..64937708, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64927724..64930965, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64701943..64703365, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4933 Neighboring gene autophagy related 2A Neighboring gene microRNA 6750 Neighboring gene microRNA 6749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64691122-64691919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3502 Neighboring gene protein phosphatase 2 regulatory subunit B'beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:64694868-64696067 Neighboring gene membrane anchored junction protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64757136-64757663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64763842-64764342 Neighboring gene basic leucine zipper ATF-like transcription factor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Promoter cloning and characterisation of the transcriptional regulation of the human thyrostimulin A2 subunit. Breous E, et al. Mol Cell Endocrinol, 2005 Dec 21. PMID 16376481
    2. Biochemical roles of the oligosaccharide chains in thyrostimulin, a heterodimeric hormone of glycoprotein hormone subunits alpha 2 (GPA2) and beta 5 (GPB5). Okajima Y, et al. Regul Pept, 2008 Jun 5. PMID 18433898
    3. The LIM domain homeobox gene isl-1 is a positive regulator of glycoprotein alpha 2 (GPA2), a subunit of thyrostimulin. Suzuki C, et al. Regul Pept, 2007 Jul 5. PMID 17363077
    4. Thyrostimulin Regulates Osteoblastic Bone Formation During Early Skeletal Development. Bassett JH, et al. Endocrinology, 2015 Sep. PMID 26018249, Free PMC Article
    5. A glycoprotein hormone expressed in corticotrophs exhibits unique binding properties on thyroid-stimulating hormone receptor. Okada SL, et al. Mol Endocrinol, 2006 Feb. PMID 16210345

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Glycoprotein hormone subunit alpha 2 (GPHA2): A pituitary stem cell-expressed gene associated with NOTCH2 signaling.
      Title: Glycoprotein hormone subunit alpha 2 (GPHA2): A pituitary stem cell-expressed gene associated with NOTCH2 signaling.
    2. expressed in osteoblasts and osteoclasts
      Title: Thyrostimulin Regulates Osteoblastic Bone Formation During Early Skeletal Development.
    3. Dual site-disrupted GPA2 and the GPB5 mutant were not expressed in either the conditioned medium or cell lysate.
      Title: Biochemical roles of the oligosaccharide chains in thyrostimulin, a heterodimeric hormone of glycoprotein hormone subunits alpha 2 (GPA2) and beta 5 (GPB5).
    4. GPA2, and another beta-subunit, GPB5, in human, are capable of forming heterodimers to activate TSH receptors.
      Title: 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.
    5. Sudy illustrated that GPA2 is positively regulated by isl-1, suggesting that this protein associates with endocrine systems including the pituitary and pancreas.
      Title: The LIM domain homeobox gene isl-1 is a positive regulator of glycoprotein alpha 2 (GPA2), a subunit of thyrostimulin.
    6. identification and characterization of GPA2 genes
      Title: Evolution of glycoprotein hormone subunit genes in bilateral metazoa: identification of two novel human glycoprotein hormone subunit family genes, GPA2 and GPB5.
    7. cloning and functional analysis of the promoter of the thyrostimulin A2 subunit
      Title: Promoter cloning and characterisation of the transcriptional regulation of the human thyrostimulin A2 subunit.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126572

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables thyrotropin-releasing hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thyrotropin-releasing hormone receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    glycoprotein hormone alpha-2
    Names
    cysteine knot protein
    glycoprotein alpha 2
    glycoprotein hormone alpha 2
    putative secreted protein Zsig51
    thyrostimulin subunit alpha

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_130769.4 → NP_570125.1  glycoprotein hormone alpha-2 precursor

      See identical proteins and their annotated locations for NP_570125.1

      Status: VALIDATED

      Source sequence(s)
      AF260739, AP001187
      Consensus CDS
      CCDS8086.1
      UniProtKB/Swiss-Prot
      Q52LE2, Q96T91
      UniProtKB/TrEMBL
      A0A024R579
      Related
      ENSP00000279168.2, ENST00000279168.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64934471..64937708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544776.3 → XP_011543078.1  glycoprotein hormone alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_011543078.1

      UniProtKB/Swiss-Prot
      Q52LE2, Q96T91
      UniProtKB/TrEMBL
      A0A024R579

    2. XM_047426491.1 → XP_047282447.1  glycoprotein hormone alpha-2 isoform X1

      UniProtKB/Swiss-Prot
      Q52LE2, Q96T91
      UniProtKB/TrEMBL
      A0A024R579

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64927724..64930965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367886.1 → XP_054223861.1  glycoprotein hormone alpha-2 isoform X1

      UniProtKB/Swiss-Prot
      Q52LE2, Q96T91
      UniProtKB/TrEMBL
      A0A024R579

    2. XM_054367885.1 → XP_054223860.1  glycoprotein hormone alpha-2 isoform X1

      UniProtKB/Swiss-Prot
      Q52LE2, Q96T91
      UniProtKB/TrEMBL
      A0A024R579
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96T91.1 GenPept UniProtKB/Swiss-Prot:Q96T91

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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