ARMH4

protein-coding

armadillo like helical domain containing 4, the group of Armadillo like helical domain containing

Gene summary

Predicted to enable TORC2 complex binding activity. Involved in regulation of inflammatory response. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C14orf37

MANE transcript

NM_001001872.4

Inheritance

—

ClinVar variants

U:15B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.57

Max pathogenic AF

—

Genomic locus

chr14:57,999,735-58,298,139

External References & Databases

Ensembl (ENSG00000139971)

Transcript & Mutation Effects

hg38 • Region Span ~298.4 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 ARMH4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 8

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001001872.4. 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	1 clinvar		3
missense			10 clinvar	2 clinvar		12
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	15	3	0	18

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001001872.4	RefSeq	NP_001001872.2	7	MANE Select
ENST00000267485.7	Ensembl	ENSP00000267485.7	7	MANE Select
NM_001320173.3	RefSeq	NP_001307102.1	4	Standard
ENST00000555101.1	Ensembl	ENSP00000477692.1	2	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: ENST00000267485
Coding exons: 7
Length: 298405
Individuals with no LoFs: 125714
Homozygous LoFs: 0
Heterozygous LoFs: 34
Defined: 125748
p: 0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0666	409	405	1.01	0.0000204	5056
Missense (PolyPhen)		19	27.587	0.68874		298
Synonymous	-1.13	173	155	1.11	0.00000872	1569
Loss of Function	2.02	15	26.2	0.573	0.00000128	340

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.00021	0.00020	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.00016	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.43
RVIS percentile EVS: 77.31

Essentials

Essential (gene trap): N