TMEM74B

transmembrane protein 74B

Basic information

Region (hg38): 20:1180560-1185415

Previous symbols: [ "C20orf46" ]

Links

ENSG00000125895 ∙ NCBI:55321 ∙ ∙ HGNC:15893 ∙ Uniprot:Q9NUR3 ∙ 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 TMEM74B gene.

• Inborn genetic diseases (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM74B 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			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in TMEM74B

This is a list of pathogenic ClinVar variants found in the TMEM74B region.

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

Position	Type	Phenotype	Significance	ClinVar
20-1180910-C-A		not specified	Uncertain significance (Sep 30, 2022)
20-1180988-C-T		not specified	Uncertain significance (Jun 12, 2023)
20-1181000-G-A		not specified	Uncertain significance (Feb 26, 2024)
20-1181002-C-T		not specified	Uncertain significance (Apr 19, 2023)
20-1181012-C-T		not specified	Uncertain significance (May 09, 2022)
20-1181065-G-A		not specified	Uncertain significance (Apr 07, 2022)
20-1181149-C-T		not specified	Uncertain significance (Nov 30, 2022)
20-1181237-C-T		not specified	Uncertain significance (Sep 22, 2022)
20-1181263-A-G		not specified	Uncertain significance (Jul 06, 2021)
20-1181269-C-T		not specified	Uncertain significance (Jun 22, 2021)
20-1181321-C-T		not specified	Uncertain significance (Dec 13, 2021)
20-1181323-C-T		not specified	Uncertain significance (Jan 08, 2024)
20-1181394-G-C		not specified	Uncertain significance (Mar 29, 2022)
20-1181414-G-A		not specified	Uncertain significance (May 17, 2023)
20-1181530-C-G		not specified	Uncertain significance (Jun 12, 2023)
20-1181531-C-G		not specified	Uncertain significance (Dec 17, 2023)
20-1181567-C-T		not specified	Uncertain significance (Apr 13, 2023)
20-1183773-G-A		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM74B	protein_coding	protein_coding	ENST00000381894	2	4855

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000304	0.591	125725	0	20	125745	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.429	173	158	1.10	0.00000989	1605
Missense in Polyphen		61	63.839	0.95552		618
Synonymous	-0.190	75	72.9	1.03	0.00000466	600
Loss of Function	0.585	6	7.76	0.773	5.80e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000187	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000640	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.000229	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.102

Intolerance Scores

• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.363
• hipred: N
• hipred_score: 0.334
• ghis: 0.509

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: Tmem74b

Gene ontology

• Cellular component: integral component of membrane