TMEM244

protein-coding

transmembrane protein 244

Gene summary

Predicted to be located in extracellular region and membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C6orf191

MANE transcript

NM_001010876.2

Inheritance

—

ClinVar variants

U:19B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr6:129,831,244-129,861,547

External References & Databases

Ensembl (ENSG00000203756)

Transcript & Mutation Effects

hg38 • Region Span ~30.3 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 TMEM244 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 19

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010876.2. 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						0
missense			18 clinvar	2 clinvar		20
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	19	2	0	21

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001010876.2	RefSeq	NP_001010876.1	5	MANE Select
ENST00000368143.6	Ensembl	ENSP00000357125.1	5	MANE Select
ENST00000438392.3	Ensembl	ENSP00000403755.1	5	Standard
ENST00000850981.1	Ensembl	ENSP00000521044.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000438392
Coding exons: 5
Length: 30304
Individuals with no LoFs: 125625
Homozygous LoFs: 0
Heterozygous LoFs: 52
Defined: 125677
p: 0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.375	72	63.6	1.13	0.00000279	811
Missense (PolyPhen)		24	19.719	1.2171		275
Synonymous	0.487	19	21.9	0.868	0.00000102	240
Loss of Function	1.18	4	7.49	0.534	3.17e-7	91

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0011	0.0011	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0	0.0	absent
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.77
RVIS percentile EVS: 86.95

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	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High