TMEM131

protein-coding

transmembrane protein 131

Gene summary

Enables collagen binding activity. Involved in collagen biosynthetic process. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_015348.2

Inheritance

—

ClinVar variants

U:252B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr2:97,756,333-97,995,948

External References & Databases

Ensembl (ENSG00000075568)

Transcript & Mutation Effects

hg38 • Region Span ~239.6 kb

Loading mutation effect viewer...

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 TMEM131 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 247

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015348.2. 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	3 clinvar		5
missense			246 clinvar	6 clinvar	1 clinvar	253
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	252	9	1	262

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015348.2	RefSeq	NP_056163.1	41	MANE Select
ENST00000186436.10	Ensembl	ENSP00000186436.5	41	MANE Select
ENST00000409721.2	Ensembl	ENSP00000386372.2	3	Standard
ENST00000418629.6	Ensembl	ENSP00000391566.2	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

cellular_component
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000186436
Coding exons: 41
Length: 239590
Individuals with no LoFs: 124617
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 124638
p: 0.0000842

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.08	761	941	0.809	0.0000497	12199
Missense (PolyPhen)		237	356.33	0.66511		4858
Synonymous	0.182	356	360	0.988	0.0000215	3683
Loss of Function	7.40	14	89.6	0.156	0.00000478	1178

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.000090	0.000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the immune response to viral infection. {ECO:0000250}.;

Recessive Scores

pRec: 0.109

Intolerance Scores

RVIS EVS: -1.05
RVIS percentile EVS: 7.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.541

Gene Damage Prediction

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