KRT222

keratin 222, the group of Keratins

Basic information

Region (hg38): 17:40654665-40665181

Previous symbols: [ "KRT222P" ]

Links

ENSG00000213424 ∙ NCBI:125113 ∙ ∙ HGNC:28695 ∙ Uniprot:Q8N1A0 ∙ 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 KRT222 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT222 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in KRT222

This is a list of pathogenic ClinVar variants found in the KRT222 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-40656410-C-G		not specified	Uncertain significance (Feb 27, 2024)
17-40656473-T-C		not specified	Uncertain significance (Feb 12, 2024)
17-40656536-C-A		not specified	Uncertain significance (Dec 21, 2023)
17-40656541-C-A		not specified	Uncertain significance (Mar 01, 2024)
17-40656572-G-C		not specified	Uncertain significance (Sep 29, 2022)
17-40656607-A-G		not specified	Uncertain significance (May 17, 2023)
17-40656611-C-T		not specified	Uncertain significance (Sep 20, 2024)
17-40656613-T-C		not specified	Uncertain significance (Oct 03, 2024)
17-40656623-T-G		not specified	Uncertain significance (Mar 15, 2024)
17-40657404-T-C		not specified	Uncertain significance (Jan 17, 2024)
17-40657421-G-A		not specified	Uncertain significance (Sep 02, 2024)
17-40657457-T-C		not specified	Uncertain significance (Sep 03, 2024)
17-40657464-T-C		not specified	Uncertain significance (Oct 18, 2021)
17-40657470-A-G		not specified	Uncertain significance (Nov 25, 2024)
17-40660027-T-C		not specified	Uncertain significance (Nov 17, 2023)
17-40660093-C-G		not specified	Uncertain significance (Mar 20, 2024)
17-40660097-C-A		not specified	Uncertain significance (Feb 05, 2024)
17-40660140-T-C		not specified	Uncertain significance (Jul 09, 2024)
17-40660179-G-A		not specified	Uncertain significance (Oct 08, 2024)
17-40661932-T-A		not specified	Uncertain significance (Aug 28, 2024)
17-40661965-C-T		not specified	Uncertain significance (Mar 19, 2024)
17-40665059-T-C		not specified	Uncertain significance (Jun 11, 2024)
17-40665077-T-C		not specified	Uncertain significance (Oct 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT222	protein_coding	protein_coding	ENST00000394052	6	10517

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000142	0.861	125609	0	138	125747	0.000549

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.520	136	154	0.882	0.00000777	1944
Missense in Polyphen		44	48.736	0.90283		615
Synonymous	0.718	48	54.8	0.877	0.00000284	535
Loss of Function	1.43	10	16.2	0.617	9.06e-7	182

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00251	0.00251
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000414	0.000413
Middle Eastern	0.000218	0.000217
South Asian	0.0000656	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.503
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.340
• hipred: N
• hipred_score: 0.146
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt222

Gene ontology

• Cellular component: intermediate filament
• Molecular function: structural molecule activity