TMEM102

transmembrane protein 102

Basic information

Region (hg38): 17:7435435-7437679

Links

ENSG00000181284 ∙ NCBI:284114 ∙ OMIM:613936 ∙ HGNC:26722 ∙ Uniprot:Q8N9M5 ∙ 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 TMEM102 gene.

• not_specified (64 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM102 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178518.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			62	2		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM102	protein_coding	protein_coding	ENST00000323206	2	2237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000857	0.777	124115	5	1621	125741	0.00649

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.921	228	271	0.842	0.0000130	3136
Missense in Polyphen		98	112	0.87504		1360
Synonymous	1.11	113	129	0.876	0.00000667	1190
Loss of Function	1.22	10	15.1	0.661	7.12e-7	147

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00567	0.00561
Ashkenazi Jewish	0.00475	0.00437
East Asian	0.000220	0.000217
Finnish	0.00703	0.00695
European (Non-Finnish)	0.0106	0.0103
Middle Eastern	0.000220	0.000217
South Asian	0.00166	0.00160
Other	0.00771	0.00752

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway. {ECO:0000269|PubMed:17828305}.

Recessive Scores

• pRec: 0.0992

Haploinsufficiency Scores

• pHI: 0.175
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.937

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem102

Gene ontology

• Biological process: apoptotic process;signal transduction;positive regulation of T cell chemotaxis;response to cytokine;positive regulation of cell adhesion;regulation of peptidyl-tyrosine phosphorylation;regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;positive regulation of T cell migration
• Cellular component: mitochondrion;plasma membrane;cell surface;integral component of membrane;protein-containing complex
• Molecular function: protein binding