GH2
Growth hormone variant
Also known as: GH-V, GHL, GHV, hGH-V, SOM2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P01242
- Gene
- GH2
- Ensembl
- ENSG00000136487
- Chromosome
- 17
- Canonical length
- 217 aa
- Protein class
- Cancer-related genes, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
217 residues, UniProt reviewed canonical sequence.
>P01242|GH2
1 MAAGSRTSLL LAFGLLCLSW LQEGSAFPTI PLSRLFDNAM LRARRLYQLA YDTYQEFEEA
61 YILKEQKYSF LQNPQTSLCF SESIPTPSNR VKTQQKSNLE LLRISLLLIQ SWLEPVQLLR
121 SVFANSLVYG ASDSNVYRHL KDLEEGIQTL MWRLEDGSPR TGQIFNQSYS KFDTKSHNDD
181 ALLKNYGLLY CFRKDMDKVE TFLRIVQCRS VEGSCGFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 120 nTPM
Expression across tissuesHPA
Tissue
- placenta: 120 nTPM
- pituitary gland: 95 nTPM
- adrenal gland: 1.2 nTPM
- heart muscle: 0.8 nTPM
- smooth muscle: 0.5 nTPM
- adipose tissue: 0.2 nTPM
Single-cell type
- syncytiotrophoblasts: 21 nCPM
- somatotrophs: 14 nCPM
- extravillous trophoblasts: 13 nCPM
- migrating cytotrophoblasts: 1.1 nCPM
- late spermatids: 0.5 nCPM
- early primary spermatocytes: 0.4 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.39
- gnomAD pLI
- 0.02
- gnomAD missense Z
- -1.16
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ development
- growth hormone receptor signaling pathway
- positive regulation of receptor signaling pathway via JAK-STAT
- response to nutrient levels
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GH2 as an antibody target. Whether an autoantibody or antibody against GH2 could matter depends on whether native GH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GH2 is annotated as secreted, so native GH2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label GH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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