TMCO6

protein-coding

transmembrane and coiled-coil domains 6, the group of Armadillo like helical domain containing

Gene summary

Predicted to enable nuclear import signal receptor activity. Predicted to be involved in protein import into nucleus. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_018502.5

Inheritance

—

ClinVar variants

U:72B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr5:140,639,435-140,645,408

External References & Databases

Ensembl (ENSG00000113119)

Transcript & Mutation Effects

hg38 • Region Span ~6.0 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 TMCO6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 72

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018502.5. 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			3 clinvar	2 clinvar		5
missense			68 clinvar	5 clinvar		73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	72	7	0	79

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018502.5	RefSeq	NP_060972.3	12	MANE Select
ENST00000394671.8	Ensembl	ENSP00000378166.3	12	MANE Select
NM_001300980.2	RefSeq	NP_001287909.1	12	Standard
NM_001300982.2	RefSeq	NP_001287911.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein import into nucleus

Molecular Function

protein binding
nuclear import signal receptor activity

Cellular Component

cell
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000394671
Coding exons: 12
Length: 5982
Individuals with no LoFs: 124719
Homozygous LoFs: 0
Heterozygous LoFs: 95
Defined: 124814
p: 0.000381

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.430	249	269	0.926	0.0000143	3101
Missense (PolyPhen)		77	100.39	0.76704		1216
Synonymous	0.179	113	115	0.979	0.00000585	1074
Loss of Function	1.57	18	26.8	0.672	0.00000138	278

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00032	rare
Latino/Admixed American	0.00067	0.00064	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0011	0.0011	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00030	0.00030	rare
South Asian	0.00033	0.00033	rare
Other	0.00066	0.00066	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.665
RVIS EVS: -0.05
RVIS percentile EVS: 50.22

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.127

Gene Damage Prediction

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