TMEM30B

transmembrane protein 30B

Basic information

Region (hg38): 14:61277369-61281761

Links

ENSG00000182107 ∙ NCBI:161291 ∙ OMIM:611029 ∙ HGNC:27254 ∙ Uniprot:Q3MIR4 ∙ 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 TMEM30B gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM30B 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in TMEM30B

This is a list of pathogenic ClinVar variants found in the TMEM30B region.

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

Position	Type	Phenotype	Significance	ClinVar
14-61280116-G-T		not specified	Uncertain significance (Oct 25, 2022)
14-61280236-G-T		not specified	Uncertain significance (Jun 29, 2023)
14-61280250-T-G		not specified	Uncertain significance (Feb 28, 2024)
14-61280256-C-T		not specified	Uncertain significance (Mar 01, 2023)
14-61280304-C-A		not specified	Uncertain significance (Jul 19, 2023)
14-61280321-G-A		not specified	Uncertain significance (Aug 17, 2021)
14-61280342-A-C		not specified	Uncertain significance (Dec 06, 2023)
14-61280358-T-C		not specified	Uncertain significance (Sep 22, 2022)
14-61280366-G-C		not specified	Uncertain significance (Mar 25, 2022)
14-61280375-G-A		not specified	Uncertain significance (Oct 06, 2021)
14-61280408-T-C		not specified	Uncertain significance (Aug 15, 2023)
14-61280469-G-A		not specified	Uncertain significance (Jan 30, 2024)
14-61280511-T-C		not specified	Uncertain significance (Feb 28, 2024)
14-61280519-G-A		not specified	Uncertain significance (Mar 07, 2024)
14-61280597-C-T		not specified	Uncertain significance (May 17, 2023)
14-61280610-G-A		not specified	Uncertain significance (Oct 20, 2021)
14-61280616-G-A		not specified	Uncertain significance (Apr 07, 2023)
14-61280691-T-A		not specified	Uncertain significance (Feb 23, 2023)
14-61280702-G-A		not specified	Uncertain significance (Nov 17, 2022)
14-61280741-A-C		not specified	Uncertain significance (Dec 08, 2023)
14-61280750-A-G		not specified	Uncertain significance (Jun 29, 2023)
14-61280799-A-G		not specified	Uncertain significance (Jan 12, 2024)
14-61280814-A-C		not specified	Uncertain significance (Mar 12, 2024)
14-61280814-A-G		not specified	Uncertain significance (May 27, 2022)
14-61280834-T-C		not specified	Uncertain significance (Nov 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM30B	protein_coding	protein_coding	ENST00000555868	1	4471

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000276	0.553	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.506	182	202	0.900	0.0000106	2221
Missense in Polyphen		72	81.078	0.88803		962
Synonymous	1.50	78	96.8	0.806	0.00000556	737
Loss of Function	0.674	8	10.3	0.774	4.52e-7	101

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

• Function: FUNCTION: Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to the plasma membrane. {ECO:0000269|PubMed:20961850, ECO:0000305}.

Recessive Scores

• pRec: 0.134

Haploinsufficiency Scores

• pHI: 0.127
• hipred: N
• hipred_score: 0.412
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.256

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem30b
• Phenotype: pigmentation phenotype; reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; hearing/vestibular/ear phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: aminophospholipid transport;phospholipid translocation;positive regulation of protein exit from endoplasmic reticulum
• Cellular component: endoplasmic reticulum;Golgi apparatus;plasma membrane;integral component of membrane
• Molecular function: phospholipid-translocating ATPase activity;protein binding;aminophospholipid transmembrane transporter activity