GH2

growth hormone 2, the group of Growth hormone family

Basic information

Region (hg38): 17:63880215-63881944

Links

ENSG00000136487 ∙ NCBI:2689 ∙ OMIM:139240 ∙ HGNC:4262 ∙ Uniprot:P01242 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GH2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GH2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			13	6		19
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	6	0

Variants in GH2

This is a list of pathogenic ClinVar variants found in the GH2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-63880463-T-A		not specified	Uncertain significance (Mar 20, 2023)
17-63880473-A-T		not specified	Likely benign (Sep 22, 2022)
17-63880477-A-C		not specified	Likely benign (Sep 22, 2022)
17-63880501-G-A		not specified	Uncertain significance (Aug 22, 2023)
17-63880512-C-T		not specified	Uncertain significance (Nov 21, 2023)
17-63880560-C-T		not specified	Uncertain significance (Mar 19, 2024)
17-63880584-A-G		not specified	Uncertain significance (Sep 19, 2022)
17-63880723-T-C		not specified	Uncertain significance (Apr 27, 2023)
17-63880765-C-T		not specified	Likely benign (Sep 26, 2023)
17-63880774-A-C		not specified	Likely benign (Apr 30, 2024)
17-63880776-A-T		not specified	Uncertain significance (Jun 21, 2023)
17-63880842-T-A		not specified	Likely benign (Jan 07, 2022)
17-63880868-C-G		not specified	Likely benign (Aug 16, 2021)
17-63880876-G-A		not specified	Likely benign (Dec 06, 2022)
17-63880878-T-C		not specified	Uncertain significance (Dec 06, 2022)
17-63880882-C-T		not specified	Uncertain significance (Mar 04, 2024)
17-63880900-G-C		not specified	Uncertain significance (May 24, 2023)
17-63880935-T-C		not specified	Uncertain significance (Sep 17, 2021)
17-63881060-G-A		not specified	Uncertain significance (Feb 28, 2024)
17-63881141-G-T		not specified	Uncertain significance (Oct 24, 2023)
17-63881479-G-C		not specified	Uncertain significance (May 10, 2022)
17-63881795-C-G		not specified	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GH2	protein_coding	protein_coding	ENST00000332800	4	1718

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0246	0.792	125736	0	4	125740	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.16	178	139	1.28	0.00000843	1637
Missense in Polyphen		35	40.047	0.87397		524
Synonymous	-2.44	88	63.3	1.39	0.00000423	538
Loss of Function	0.985	3	5.49	0.546	2.38e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000619	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);PI3K-Akt Signaling Pathway;Growth hormone receptor signaling;Prolactin receptor signaling;Cytokine Signaling in Immune system;Immune System (Consensus)

Intolerance Scores

• loftool: 0.0801
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.63

Haploinsufficiency Scores

• pHI: 0.0744
• hipred: N
• hipred_score: 0.330
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: regulation of signaling receptor activity;response to nutrient levels;positive regulation of tyrosine phosphorylation of STAT protein;positive regulation of growth;positive regulation of JAK-STAT cascade;animal organ development;positive regulation of peptidyl-tyrosine phosphorylation;growth hormone receptor signaling pathway;JAK-STAT cascade involved in growth hormone signaling pathway
• Cellular component: extracellular region;extracellular space;endosome lumen
• Molecular function: growth hormone receptor binding;hormone activity;growth factor activity