TMEM185B

transmembrane protein 185B

Basic information

Region (hg38): 2:120217479-120223400

Previous symbols: [ "FAM11B" ]

Links

ENSG00000226479 ∙ NCBI:79134 ∙ ∙ HGNC:18896 ∙ Uniprot:Q9H7F4 ∙ 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 TMEM185B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM185B 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in TMEM185B

This is a list of pathogenic ClinVar variants found in the TMEM185B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-120221934-A-C		not specified	Uncertain significance (Jan 23, 2023)
2-120221956-G-T		not specified	Uncertain significance (Mar 04, 2024)
2-120221957-G-C			Likely benign (Nov 01, 2022)
2-120221988-A-G		not specified	Uncertain significance (May 25, 2022)
2-120222021-G-A		not specified	Uncertain significance (Aug 22, 2023)
2-120222207-A-G		not specified	Uncertain significance (Dec 17, 2023)
2-120222241-T-C		not specified	Uncertain significance (Feb 08, 2023)
2-120222247-C-T		not specified	Likely benign (Apr 09, 2024)
2-120222255-A-G		not specified	Uncertain significance (Jul 15, 2021)
2-120222261-T-C		not specified	Uncertain significance (Apr 25, 2022)
2-120222265-G-T		not specified	Uncertain significance (Aug 10, 2021)
2-120222334-T-C		not specified	Uncertain significance (Sep 28, 2022)
2-120222358-G-A		not specified	Uncertain significance (Nov 17, 2022)
2-120222359-C-A		not specified	Uncertain significance (Nov 17, 2022)
2-120222547-T-G		not specified	Uncertain significance (Oct 20, 2021)
2-120222573-C-T		not specified	Uncertain significance (May 09, 2023)
2-120222634-C-T		not specified	Uncertain significance (May 17, 2023)
2-120222711-C-A		not specified	Uncertain significance (Jul 09, 2021)
2-120222721-T-C		not specified	Uncertain significance (Mar 29, 2023)
2-120222744-C-G		not specified	Uncertain significance (May 08, 2024)
2-120222753-C-G		not specified	Uncertain significance (Feb 16, 2023)
2-120222866-T-A		not specified	Uncertain significance (Dec 09, 2023)
2-120222889-G-A		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM185B	protein_coding	protein_coding	ENST00000426077	1	2131

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.968	0.0318	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.71	127	194	0.654	0.0000117	2229
Missense in Polyphen		40	68.877	0.58075		836
Synonymous	2.06	62	86.3	0.718	0.00000586	723
Loss of Function	3.03	0	10.7	0.00	6.10e-7	99

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

• hipred: N
• hipred_score: 0.339
• ghis: 0.493

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem185b

Gene ontology

• Cellular component: integral component of membrane