TOGARAM2

protein-coding

TOG array regulator of axonemal microtubules 2, the group of TOG domain containing

Gene summary

Predicted to enable microtubule binding activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to be active in cilium and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

FAM179A

MANE transcript

NM_199280.4

Inheritance

ClinVar variants

P:1U:207B:26

Top phenotype

Hearing loss, autosomal recessive

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr2:28,956,611-29,052,230

External References & Databases

Ensembl (ENSG00000189350)

Transcript & Mutation Effects

hg38 • Region Span ~95.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

nonsyndromic genetic hearing lossLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0019497

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TOGARAM2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 219

not providedTotal: 4

Hearing loss, autosomal recessiveTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_199280.4. 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			1 clinvar	2 clinvar		3
missense			200 clinvar	23 clinvar		223
nonsense		1 clinvar	2 clinvar			3
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	1	207	26	0	234

Highest pathogenic variant AF is 6.9063924e-7

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_199280.4	RefSeq	NP_954974.2	19	MANE Select
ENST00000379558.5	Ensembl	ENSP00000368876.3	19	MANE Select
NM_001321538.3	RefSeq	NP_001308467.1	18	Standard
NM_001321539.3	RefSeq	NP_001308468.1	15	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379558
Coding exons: 19
Length: 104763
Individuals with no LoFs: 124346
Homozygous LoFs: 5
Heterozygous LoFs: 1242
Defined: 125593
p: 0.00498

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.483	536	568	0.943	0.0000346	6409
Missense (PolyPhen)		123	128.02	0.96076		1626
Synonymous	-0.267	251	246	1.02	0.0000159	2135
Loss of Function	1.19	29	36.8	0.789	0.00000181	466

Population LoF Frequency

Population	CAF	p-value	Status
African	0.014	0.013	notable
Latino/Admixed American	0.0038	0.0037	notable
Ashkenazi Jewish	0.00050	0.00050	rare
East Asian	0.00045	0.00044	rare
Finnish	0.0078	0.0069	notable
European (Non-Finnish)	0.0065	0.0062	notable
South Asian	0.00086	0.00078	rare
Other	0.0048	0.0046	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 3.2
RVIS percentile EVS: 99.33

Essentials

Essential (gene trap): N