TMEM221

transmembrane protein 221

Basic information

Region (hg38): 19:17435508-17448668

Links

ENSG00000188051 ∙ NCBI:100130519 ∙ ∙ HGNC:21943 ∙ Uniprot:A6NGB7 ∙ 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 TMEM221 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM221 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
missense			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in TMEM221

This is a list of pathogenic ClinVar variants found in the TMEM221 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-17436482-C-T		not specified	Uncertain significance (Aug 03, 2022)
19-17436484-T-C		not specified	Uncertain significance (Apr 09, 2024)
19-17436515-C-T		not specified	Uncertain significance (Apr 19, 2023)
19-17436520-C-T		not specified	Uncertain significance (Dec 15, 2023)
19-17436524-C-T			Likely benign (Jul 01, 2022)
19-17436549-C-A		not specified	Uncertain significance (Dec 09, 2023)
19-17436685-G-A		not specified	Uncertain significance (Oct 06, 2021)
19-17436748-C-T		not specified	Likely benign (Mar 18, 2024)
19-17436792-C-T		not specified	Uncertain significance (Apr 07, 2022)
19-17436805-G-A		not specified	Uncertain significance (May 10, 2023)
19-17436814-G-A		not specified	Uncertain significance (Jun 22, 2023)
19-17436892-C-T		not specified	Uncertain significance (Jan 10, 2023)
19-17436898-C-T		not specified	Uncertain significance (Mar 23, 2023)
19-17445231-A-C		not specified	Uncertain significance (Mar 06, 2023)
19-17445259-G-A		not specified	Uncertain significance (Apr 19, 2024)
19-17445276-C-A		not specified	Uncertain significance (Jul 12, 2023)
19-17448165-C-T		not specified	Uncertain significance (Nov 07, 2022)
19-17448171-C-T		not specified	Uncertain significance (Mar 25, 2024)
19-17448225-C-G		not specified	Uncertain significance (Jan 04, 2022)
19-17448278-T-G		not specified	Uncertain significance (Jul 09, 2021)
19-17448291-C-G		not specified	Uncertain significance (Apr 12, 2022)
19-17448305-A-G		not specified	Uncertain significance (Feb 10, 2022)
19-17448315-C-T		not specified	Uncertain significance (Jun 01, 2023)
19-17448339-G-C		not specified	Uncertain significance (Aug 21, 2023)
19-17448380-G-A		not specified	Uncertain significance (Mar 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM221	protein_coding	protein_coding	ENST00000341130	3	13059

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00679	0.539	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.802	91	115	0.790	0.00000724	1754
Missense in Polyphen		26	30.847	0.84288		605
Synonymous	0.690	41	47.0	0.872	0.00000281	695
Loss of Function	0.0452	3	3.09	0.972	1.31e-7	60

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.248

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem221

Gene ontology

• Cellular component: integral component of membrane