GPHB5 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] See more...

Aliases for GPHB5 Gene

Aliases for GPHB5 Gene

  • Glycoprotein Hormone Subunit Beta 5 2 3 5
  • Thyrostimulin Subunit Beta 2 3 4
  • ZLUT1 2 3 4
  • GPB5 2 3 4
  • Glycoprotein Hormone Beta 5 2 3
  • Glycoprotein Hormone Beta-5 3 4
  • Glycoprotein Hormone Beta Subunit 3
  • Glycoprotein Beta 5 3
  • GPHB5 5
  • B5 3

External Ids for GPHB5 Gene

Previous GeneCards Identifiers for GPHB5 Gene

  • GC14M062849
  • GC14M063779
  • GC14M043946

Summaries for GPHB5 Gene

Entrez Gene Summary for GPHB5 Gene

  • GPHB5 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 GPHB5 Gene

GPHB5 (Glycoprotein Hormone Subunit Beta 5) is a Protein Coding gene. Diseases associated with GPHB5 include Neonatal Thyrotoxicosis. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is LHB.

UniProtKB/Swiss-Prot Summary for GPHB5 Gene

  • Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism.

Gene Wiki entry for GPHB5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPHB5 Gene

Genomics for GPHB5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPHB5 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
GH14J063318 Promoter 0.3 EPDnew 250.7 0.0 -20 0.1 GPHB5 lnc-GPHB5-1 HSALNG0101829 PPP2R5E
GH14J063203 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.3 +113.8 113800 4.1 IKZF1 JUND ATF2 ZIC2 YY1 HOMEZ FOXA2 SMAD4 SAP130 ETV4 RHOJ KCNH5 GPHB5 LOC105370531
GH14J063362 Enhancer 0.8 FANTOM5 Ensembl ENCODE 2 -43.8 -43819 1.1 FEZF1 POLR2A CTCF EZH2 HSALNG0101830 KCNH5 PPP2R5E GPHB5 WDR89 HSALNG0101831
GH14J063427 Enhancer 0.3 FANTOM5 1.7 -108.8 -108849 0.2 PRDM1 KCNH5 GPHB5 PPP2R5E HSALNG0101832 HE856195 lnc-WDR89-4
GH14J063322 Enhancer 0.3 Ensembl 0.7 -4.2 -4166 1 RFX1 GPHB5 HSALNG0101829 PPP2R5E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPHB5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPHB5

Top Transcription factor binding sites by QIAGEN in the GPHB5 gene promoter:
  • AP-1
  • Arnt
  • Evi-1
  • Lhx3a
  • LHX3b
  • POU6F1 (c2)
  • PPAR-gamma1
  • PPAR-gamma2
  • Roaz
  • Zic3

Genomic Locations for GPHB5 Gene

Latest Assembly
chr14:63,312,835-63,318,935
(GRCh38/hg38)
Size:
6,101 bases
Orientation:
Minus strand

Previous Assembly
chr14:63,779,549-63,785,649
(GRCh37/hg19 by Entrez Gene)
Size:
6,101 bases
Orientation:
Minus strand

chr14:63,779,549-63,785,593
(GRCh37/hg19 by Ensembl)
Size:
6,045 bases
Orientation:
Minus strand

Genomic View for GPHB5 Gene

Genes around GPHB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPHB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPHB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPHB5 Gene

Proteins for GPHB5 Gene

  • Protein details for GPHB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YW7-GPHB5_HUMAN
    Recommended name:
    Glycoprotein hormone beta-5
    Protein Accession:
    Q86YW7
    Secondary Accessions:
    • Q6NTD0
    • Q8NFW2

    Protein attributes for GPHB5 Gene

    Size:
    130 amino acids
    Molecular mass:
    14232 Da
    Quaternary structure:
    • Heterodimer with GPHA2; this heterodimer interacts with thyroid-stimulating hormone receptor (TSHR), and hence stimulates cAMP production.

neXtProt entry for GPHB5 Gene

Post-translational modifications for GPHB5 Gene

Other Protein References for GPHB5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GPHB5 Gene

Domains & Families for GPHB5 Gene

Gene Families for GPHB5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for GPHB5 Gene

InterPro:
Blocks:
  • Cystine knot domain
  • Gonadotropin, beta chain

Suggested Antigen Peptide Sequences for GPHB5 Gene

GenScript: Design optimal peptide antigens:
  • GPHB5 protein (A4IF52_HUMAN)
  • Thyrostimulin subunit beta (GPHB5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86YW7

UniProtKB/Swiss-Prot:

GPHB5_HUMAN :
  • Belongs to the glycoprotein hormones subunit beta family.
Family:
  • Belongs to the glycoprotein hormones subunit beta family.
genes like me logo Genes that share domains with GPHB5: view

Function for GPHB5 Gene

Molecular function for GPHB5 Gene

UniProtKB/Swiss-Prot Function:
Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism.

Phenotypes From GWAS Catalog for GPHB5 Gene

Gene Ontology (GO) - Molecular Function for GPHB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 contributes_to hormone activity IBA 21873635
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 GPHB5: view

Phenotypes for GPHB5 Gene

MGI mutant phenotypes for GPHB5:
inferred from 2 alleles
GenomeRNAi human phenotypes for GPHB5:
genes like me logo Genes that share phenotypes with GPHB5: view

Animal Models for GPHB5 Gene

MGI Knock Outs for GPHB5:

Animal Models for research

  • Taconic Biosciences Mouse Models for GPHB5

miRNA for GPHB5 Gene

miRTarBase miRNAs that target GPHB5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPHB5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GPHB5 Gene

Localization for GPHB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPHB5 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 GPHB5 gene
Compartment Confidence
extracellular 5
plasma membrane 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GPHB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with GPHB5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPHB5 Gene

Pathways & Interactions for GPHB5 Gene

genes like me logo Genes that share pathways with GPHB5: view

Gene Ontology (GO) - Biological Process for GPHB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002155 regulation of thyroid hormone mediated signaling pathway IBA 21873635
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP 12045258
GO:0009755 hormone-mediated signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with GPHB5: view

No data available for SIGNOR curated interactions for GPHB5 Gene

Drugs & Compounds for GPHB5 Gene

(1) Drugs for GPHB5 Gene - From: 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 GPHB5: view

Transcripts for GPHB5 Gene

mRNA/cDNA for GPHB5 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPHB5

Alternative Splicing Database (ASD) splice patterns (SP) for GPHB5 Gene

No ASD Table

Relevant External Links for GPHB5 Gene

GeneLoc Exon Structure for
GPHB5

Expression for GPHB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPHB5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPHB5

SOURCE GeneReport for Unigene cluster for GPHB5 Gene:

Hs.375028

mRNA Expression by UniProt/SwissProt for GPHB5 Gene:

Q86YW7-GPHB5_HUMAN
Tissue specificity: Highly expressed in brain and at low levels in pituitary. Also found in retina, testis and skin but not in pancreas, parotid, kidney, stomach, liver, colon, small intestine, thyroid, brain or adrenal gland. In pituitary, colocalizes with ACTH, suggesting that it is located in corticotrophs.
genes like me logo Genes that share expression patterns with GPHB5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPHB5 Gene

Orthologs for GPHB5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPHB5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GPHB5 29
  • 99.74 (n)
Cow
(Bos Taurus)
Mammalia GPHB5 29
  • 90.51 (n)
Dog
(Canis familiaris)
Mammalia GPHB5 29
  • 90.26 (n)
Rat
(Rattus norvegicus)
Mammalia Gphb5 29
  • 86.56 (n)
Mouse
(Mus musculus)
Mammalia Gphb5 29 16
  • 85.64 (n)
Chicken
(Gallus gallus)
Aves LOC428919 29
  • 75.26 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gphb5 29
  • 68.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17260 29
Zebrafish
(Danio rerio)
Actinopterygii gphb5 29
  • 66.39 (n)
Species where no ortholog for GPHB5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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 GPHB5 Gene

ENSEMBL:
Gene Tree for GPHB5 (if available)
TreeFam:
Gene Tree for GPHB5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPHB5: view image
Alliance of Genome Resources:
Additional Orthologs for GPHB5

Paralogs for GPHB5 Gene

Paralogs for GPHB5 Gene

(1) SIMAP similar genes for GPHB5 Gene using alignment to 2 proteins:

  • GPHB5_HUMAN
  • A4IF52_HUMAN
genes like me logo Genes that share paralogs with GPHB5: view

Variants for GPHB5 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GPHB5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GPHB5 Gene

Variant ID Type Subtype PubMed ID
dgv137n21 CNV gain 19592680
dgv1925n100 CNV gain 25217958
dgv257n27 CNV gain 19166990
dgv3723n54 CNV gain 21841781
dgv642e212 CNV gain 25503493
dgv87e55 CNV gain 17911159
dgv88e55 CNV gain 17911159
esv2761522 CNV gain 21179565
esv3567910 CNV gain 25503493
esv3634723 CNV gain 21293372
nsv1051684 CNV gain 25217958
nsv519574 CNV gain 19592680
nsv564893 CNV gain 21841781
nsv564897 CNV gain 21841781
nsv564900 CNV gain 21841781
nsv832815 CNV gain 17160897

Additional Variant Information for GPHB5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPHB5
Leiden Open Variation Database (LOVD)
GPHB5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for GPHB5 Gene

Disorders for GPHB5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPHB5 Gene - From: COP

Disorder Aliases PubMed IDs
neonatal thyrotoxicosis
- elite association - COSMIC cancer census association via MalaCards
Search GPHB5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GPHB5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GPHB5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPHB5 Gene

Publications for GPHB5 Gene

  1. A glycoprotein hormone expressed in corticotrophs exhibits unique binding properties on thyroid-stimulating hormone receptor. (PMID: 16210345) Okada SL … Webster PJ (Molecular endocrinology (Baltimore, Md.) 2006) 2 3 4 22
  2. Evolution of glycoprotein hormone subunit genes in bilateral metazoa: identification of two novel human glycoprotein hormone subunit family genes, GPA2 and GPB5. (PMID: 12089349) Hsu SY … Bhalla A (Molecular endocrinology (Baltimore, Md.) 2002) 2 3 4
  3. Inflammatory cytokines regulate glycoprotein subunit beta5 of thyrostimulin through nuclear factor-kappaB. (PMID: 19095738) Suzuki C … Oiso Y (Endocrinology 2009) 3 22
  4. 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
  5. 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

Products for GPHB5 Gene

Sources for GPHB5 Gene