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

Gene ID: 170589, updated on 27-Nov-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

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