TMEM132A

protein-coding

transmembrane protein 132A

Gene summary

This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Previous symbols:

HSPA5BP1

MANE transcript

NM_178031.3

Inheritance

—

ClinVar variants

U:190B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.55

Max pathogenic AF

—

Genomic locus

chr11:60,924,460-60,937,159

External References & Databases

Ensembl (ENSG00000006118)

Transcript & Mutation Effects

hg38 • Region Span ~12.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TMEM132A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 187

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178031.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			5 clinvar	2 clinvar	2 clinvar	9
missense			182 clinvar	4 clinvar		186
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	190	6	2	198

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178031.3	RefSeq	NP_821174.1	11	MANE Select
ENST00000453848.7	Ensembl	ENSP00000405823.2	11	MANE Select
NM_017870.4	RefSeq	NP_060340.2	11	Standard
ENST00000005286.8	Ensembl	ENSP00000005286.4	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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)

Biological Process

biological_process
post-translational protein modification
cellular protein metabolic process

Molecular Function

molecular_function

Cellular Component

Golgi membrane
endoplasmic reticulum
endoplasmic reticulum lumen
endoplasmic reticulum membrane
Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000005286
Coding exons: 11
Length: 12697
Individuals with no LoFs: 125653
Homozygous LoFs: 0
Heterozygous LoFs: 95
Defined: 125748
p: 0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.796	590	647	0.912	0.0000427	6362
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00031	rare
Latino/Admixed American	0.00042	0.00040	rare
Ashkenazi Jewish	0.00055	0.00040	rare
East Asian	0.00055	0.00054	rare
Finnish	0.00029	0.00028	rare
European (Non-Finnish)	0.00033	0.00031	rare
South Asian	0.00068	0.00062	rare
Other	0.00036	0.00033	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.0995

Intolerance Scores

LoFtool: 0.779
RVIS EVS: -0.44
RVIS percentile EVS: 24.71

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.516

Gene Damage Prediction

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