TMEM132A

transmembrane protein 132A

Basic information

Region (hg38): 11:60924460-60937159

Previous symbols: [ "HSPA5BP1" ]

Links

ENSG00000006118 ∙ NCBI:54972 ∙ OMIM:617363 ∙ HGNC:31092 ∙ Uniprot:Q24JP5 ∙ 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 TMEM132A gene.

• not_specified (161 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM132A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178031.3. 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				2	2	4
missense			156	4		160
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	157	6	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM132A	protein_coding	protein_coding	ENST00000005286	11	12697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.04e-9	0.993	125653	0	95	125748	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.796	590	647	0.912	0.0000427	6362
Missense in Polyphen		214	231.37	0.92494		2333
Synonymous	1.93	239	280	0.853	0.0000182	2351
Loss of Function	2.50	20	36.3	0.552	0.00000179	369

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000757	0.000730
Ashkenazi Jewish	0.000547	0.000397
East Asian	0.000548	0.000544
Finnish	0.000293	0.000277
European (Non-Finnish)	0.000334	0.000308
Middle Eastern	0.000548	0.000544
South Asian	0.000681	0.000621
Other	0.000356	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation (By similarity). {ECO:0000250}.
• Pathway: Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

• pRec: 0.0995

Intolerance Scores

• loftool: 0.779
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.71

Haploinsufficiency Scores

• pHI: 0.203
• hipred: N
• hipred_score: 0.431
• ghis: 0.646

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.516

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem132a
• Phenotype: embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype

Gene ontology

• Biological process: biological_process;post-translational protein modification;cellular protein metabolic process
• Cellular component: Golgi membrane;endoplasmic reticulum;endoplasmic reticulum lumen;endoplasmic reticulum membrane;Golgi apparatus;integral component of membrane;extracellular exosome
• Molecular function: molecular_function