TMEM183A

protein-coding

transmembrane protein 183A

Gene summary

Predicted to be located in membrane. Predicted to be part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf37

MANE transcript

NM_138391.6

Inheritance

—

ClinVar variants

U:48B:2

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr1:203,007,374-203,024,848

External References & Databases

Ensembl (ENSG00000163444)

Transcript & Mutation Effects

hg38 • Region Span ~17.5 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 TMEM183A variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 47

not providedTotal: 1

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138391.6. 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		1
missense			46 clinvar	1 clinvar		47
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	48	2	0	50

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 69 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138391.6	RefSeq	NP_612400.3	8	MANE Select
ENST00000367242.4	Ensembl	ENSP00000356211.3	8	MANE Select
NM_001322955.2	RefSeq	NP_001309884.1	8	Standard
NM_001322956.2	RefSeq	NP_001309885.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367242
Coding exons: 8
Length: 17463
Individuals with no LoFs: 124512
Homozygous LoFs: 0
Heterozygous LoFs: 18
Defined: 124530
p: 0.0000723

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.41	158	216	0.731	0.0000118	2430
Missense (PolyPhen)		17	42.602	0.39904		573
Synonymous	0.447	76	81.1	0.937	0.00000427	741
Loss of Function	3.49	4	21.5	0.186	0.00000131	215

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00023	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000063	0.000063	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.461
RVIS EVS: -0.01
RVIS percentile EVS: 53.19

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.700

Gene Damage Prediction

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