PROM2

prominin 2

Basic information

Region (hg38): 2:95274449-95291308

Links

ENSG00000155066 ∙ NCBI:150696 ∙ OMIM:617160 ∙ HGNC:20685 ∙ Uniprot:Q8N271 ∙ 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 PROM2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PROM2 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				1	1	2
missense			72	5		77
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	72	6	1

Variants in PROM2

This is a list of pathogenic ClinVar variants found in the PROM2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-95274662-G-A		not specified	Uncertain significance (Oct 06, 2021)
2-95274727-C-T		not specified	Uncertain significance (Dec 03, 2024)
2-95274736-G-A		not specified	Uncertain significance (Aug 30, 2022)
2-95274752-C-T		not specified	Uncertain significance (Sep 26, 2024)
2-95274758-G-T		not specified	Uncertain significance (Nov 15, 2024)
2-95274787-C-A		not specified	Uncertain significance (Oct 25, 2024)
2-95274800-C-T		not specified	Uncertain significance (Nov 10, 2022)
2-95275501-G-T		not specified	Uncertain significance (May 10, 2024)
2-95275502-G-A		not specified	Uncertain significance (Feb 28, 2024)
2-95275936-C-T		not specified	Uncertain significance (Nov 17, 2022)
2-95275937-G-T		not specified	Uncertain significance (Mar 25, 2024)
2-95276005-G-T		not specified	Uncertain significance (Jul 30, 2024)
2-95276036-G-A		not specified	Uncertain significance (Mar 15, 2024)
2-95276051-G-A		not specified	Uncertain significance (Jul 12, 2022)
2-95276077-G-A		not specified	Uncertain significance (Sep 20, 2023)
2-95276092-G-T		not specified	Uncertain significance (Dec 28, 2022)
2-95276262-G-A		not specified	Likely benign (Mar 15, 2024)
2-95276265-C-T		not specified	Uncertain significance (Jul 22, 2024)
2-95276288-A-T		not specified	Uncertain significance (Nov 17, 2022)
2-95276291-G-A		not specified	Uncertain significance (Oct 18, 2021)
2-95276293-G-C		not specified	Uncertain significance (Dec 25, 2024)
2-95276307-C-A		not specified	Uncertain significance (Sep 08, 2024)
2-95276318-C-T		not specified	Uncertain significance (Jan 03, 2022)
2-95276606-G-A		not specified	Uncertain significance (Sep 26, 2022)
2-95276619-T-C		not specified	Uncertain significance (Feb 24, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PROM2	protein_coding	protein_coding	ENST00000317620	23	16856

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.46e-15	0.964	125549	0	198	125747	0.000788

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.922	432	489	0.883	0.0000300	5303
Missense in Polyphen		174	185.2	0.93952		2164
Synonymous	0.146	215	218	0.987	0.0000139	1746
Loss of Function	2.36	30	47.6	0.630	0.00000228	505

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00195	0.00169
Ashkenazi Jewish	0.000522	0.000496
East Asian	0.00645	0.00638
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000271	0.000264
Middle Eastern	0.00645	0.00638
South Asian	0.000205	0.000196
Other	0.000177	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0927

Intolerance Scores

• loftool: 0.824
• rvis_EVS: -0.37
• rvis_percentile_EVS: 28.26

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.313
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.287

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prom2
• Phenotype: immune system phenotype; vision/eye phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); pigmentation phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: positive regulation of protein phosphorylation;positive regulation of cell projection organization;regulation of GTPase activity;negative regulation of pinocytosis;regulation of clathrin-dependent endocytosis;negative regulation of caveolin-mediated endocytosis
• Cellular component: integral component of plasma membrane;microvillus;cilium;cell surface;basolateral plasma membrane;apical plasma membrane;cytoplasmic vesicle;microvillus membrane;cell projection;microspike;membrane raft;ciliary membrane;extracellular exosome;prominosome
• Molecular function: cholesterol binding