TMEM176B

protein-coding

transmembrane protein 176B, the group of Membrane spanning 4-domains

Gene summary

Predicted to be involved in negative regulation of dendritic cell differentiation. Predicted to be located in nuclear membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001101312.2

Inheritance

—

ClinVar variants

U:44B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.16

Max pathogenic AF

—

Genomic locus

chr7:150,791,285-150,801,360

External References & Databases

Ensembl (ENSG00000106565)

Transcript & Mutation Effects

hg38 • Region Span ~10.1 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 TMEM176B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 41

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001101312.2. 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			2 clinvar			2
missense			38 clinvar	5 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	44	5	0	49

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 194 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001101312.2	RefSeq	NP_001094782.1	6	MANE Select
ENST00000326442.10	Ensembl	ENSP00000318409.5	6	MANE Select
NM_001101311.2	RefSeq	NP_001094781.1	6	Standard
NM_001101314.2	RefSeq	NP_001094784.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

animal organ morphogenesis
cell differentiation
negative regulation of dendritic cell differentiation

Cellular Component

integral component of membrane
nuclear membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000447204
Coding exons: 6
Length: 10076
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125748
p: 0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.231	155	147	1.05	0.00000765	1699
Missense (PolyPhen)		34	35.237	0.96491		470
Synonymous	-0.872	71	62.2	1.14	0.00000352	575
Loss of Function	-0.521	14	12.1	1.16	5.99e-7	134

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000089	0.000088	rare
South Asian	0.000033	0.000033	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0981

Intolerance Scores

LoFtool: 0.978
RVIS EVS: 1.24
RVIS percentile EVS: 93.39

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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