GIP

gastric inhibitory polypeptide, the group of Neuropeptides

Basic information

Region (hg38): 17:48958553-48968596

Links

ENSG00000159224 ∙ NCBI:2695 ∙ OMIM:137240 ∙ HGNC:4270 ∙ Uniprot:P09681 ∙ 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 GIP gene.

• Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GIP 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in GIP

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

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

Position	Type	Phenotype	Significance	ClinVar
17-48960890-G-C		not specified	Uncertain significance (Feb 28, 2023)
17-48961756-C-A		not specified	Uncertain significance (Dec 27, 2023)
17-48964323-C-G		not specified	Uncertain significance (Jan 03, 2024)
17-48964337-A-G		not specified	Uncertain significance (Dec 13, 2022)
17-48964392-T-A		not specified	Uncertain significance (Aug 01, 2022)
17-48964419-G-C		not specified	Uncertain significance (Nov 03, 2023)
17-48967210-G-A		not specified	Uncertain significance (Oct 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GIP	protein_coding	protein_coding	ENST00000357424	5	10043

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.271	0.707	125734	0	7	125741	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00966	81	80.8	1.00	0.00000409	985
Missense in Polyphen		24	23.26	1.0318		305
Synonymous	-0.307	36	33.7	1.07	0.00000175	303
Loss of Function	1.93	2	7.81	0.256	3.76e-7	88

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000447	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potent stimulator of insulin secretion and relatively poor inhibitor of gastric acid secretion.
• Pathway: Insulin secretion - Homo sapiens (human);Incretin synthesis, secretion, and inactivation;Signaling by GPCR;Signal Transduction;Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Incretin synthesis, secretion, and inactivation;Peptide hormone metabolism;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.285

Intolerance Scores

• loftool: 0.416
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.73

Haploinsufficiency Scores

• pHI: 0.0938
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.373

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gip
• Phenotype: normal phenotype

Gene ontology

• Biological process: signal transduction;G protein-coupled receptor signaling pathway;female pregnancy;memory;adult locomotory behavior;response to glucose;response to selenium ion;response to acidic pH;regulation of signaling receptor activity;positive regulation of glucose transmembrane transport;response to organic cyclic compound;sensory perception of pain;endocrine pancreas development;positive regulation of insulin secretion;response to lipid;exploration behavior;regulation of fatty acid biosynthetic process;response to drug;response to starvation;response to amino acid;response to peptide hormone;positive regulation of cAMP-mediated signaling;response to axon injury;regulation of insulin secretion;digestive system development;long-term synaptic potentiation;positive regulation of glucagon secretion;triglyceride homeostasis
• Cellular component: extracellular region;extracellular space;endoplasmic reticulum lumen;secretory granule lumen;neuronal cell body
• Molecular function: hormone activity;protein binding