TMEM229B

transmembrane protein 229B

Basic information

Region (hg38): 14:67447084-67533739

Previous symbols: [ "C14orf83" ]

Links

ENSG00000198133 ∙ NCBI:161145 ∙ OMIM:619022 ∙ HGNC:20130 ∙ Uniprot:Q8NBD8 ∙ 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 TMEM229B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM229B 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in TMEM229B

This is a list of pathogenic ClinVar variants found in the TMEM229B region.

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

Position	Type	Phenotype	Significance	ClinVar
14-67473436-T-C		not specified	Uncertain significance (Mar 19, 2024)
14-67473454-A-G		not specified	Uncertain significance (Feb 28, 2024)
14-67473460-C-T		not specified	Uncertain significance (May 24, 2024)
14-67473525-C-A		not specified	Uncertain significance (Mar 07, 2024)
14-67473556-G-A		not specified	Uncertain significance (May 07, 2024)
14-67473571-A-G		not specified	Uncertain significance (Feb 14, 2023)
14-67473576-G-C		not specified	Uncertain significance (Feb 15, 2023)
14-67473716-G-T		not specified	Uncertain significance (Aug 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM229B	protein_coding	protein_coding	ENST00000357461	1	86656

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.130	0.788	123204	0	4	123208	0.0000162

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.69	66	118	0.561	0.00000856	1077
Missense in Polyphen		14	43.889	0.31898		411
Synonymous	0.532	52	57.1	0.910	0.00000479	339
Loss of Function	1.40	2	5.55	0.360	2.42e-7	48

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000294	0.0000294
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000672	0.0000550
Finnish	0.00	0.00
European (Non-Finnish)	0.00000938	0.00000895
Middle Eastern	0.0000672	0.0000550
South Asian	0.0000336	0.0000333
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.198
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• pHI: 0.135
• hipred: Y
• hipred_score: 0.676
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Tmem229b

Gene ontology

• Biological process: response to bacterium
• Cellular component: integral component of membrane