TMEM37

transmembrane protein 37

Basic information

Region (hg38): 2:119429900-119438504

Links

ENSG00000171227 ∙ NCBI:140738 ∙ OMIM:618831 ∙ HGNC:18216 ∙ Uniprot:Q8WXS4 ∙ 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 TMEM37 gene.

• Inborn genetic diseases (6 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM37 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	1	1	7
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	2

Variants in TMEM37

This is a list of pathogenic ClinVar variants found in the TMEM37 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-119436919-C-T		not specified	Uncertain significance (May 09, 2023)
2-119436920-G-A		not specified	Likely benign (Apr 19, 2023)
2-119436928-T-C		not specified	Uncertain significance (Apr 13, 2022)
2-119436992-C-T		not specified	Uncertain significance (Jan 24, 2024)
2-119437075-A-AGTGTGC			Benign (Dec 31, 2019)
2-119437097-G-A			Benign (May 14, 2018)
2-119437141-C-T		not specified	Uncertain significance (Mar 04, 2024)
2-119437162-G-A		not specified	Uncertain significance (Jan 06, 2023)
2-119437168-G-T		not specified	Uncertain significance (Feb 10, 2023)
2-119437218-C-A		not specified	Uncertain significance (Jul 14, 2021)
2-119437328-C-T		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM37	protein_coding	protein_coding	ENST00000306406	2	8620

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00239	0.555	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.733	95	117	0.810	0.00000756	1234
Missense in Polyphen		32	40.559	0.78897		461
Synonymous	-0.781	61	53.7	1.14	0.00000391	414
Loss of Function	0.269	4	4.63	0.865	2.02e-7	49

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000532	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity). {ECO:0000250|UniProtKB:Q9JJV3}.

Recessive Scores

• pRec: 0.277

Intolerance Scores

• loftool: 0.175
• rvis_EVS: 0.19
• rvis_percentile_EVS: 67.03

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.256
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.880

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem37

Gene ontology

• Biological process: regulation of ion transmembrane transport;calcium ion transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: voltage-gated ion channel activity;calcium channel activity