POM121C

protein-coding

POM121 transmembrane nucleoporin C

Gene summary

Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001099415.3

Inheritance

—

ClinVar variants

U:177B:26

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr7:75,416,786-75,486,299

External References & Databases

Ensembl (ENSG00000272391)

NCBI Gene (100101267)

Transcript & Mutation Effects

hg38 • Region Span ~69.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

schizophreniaNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0005090

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to POM121C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 187

not providedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001099415.3. 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				9 clinvar		9
missense			174 clinvar	16 clinvar	1 clinvar	191
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	177	25	1	203

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001099415.3	RefSeq	NP_001092885.2	12	MANE Select
ENST00000615331.5	Ensembl	ENSP00000481575.1	12	MANE Select
ENST00000398379.2	Ensembl	ENSP00000381415.2	2	Standard
ENST00000439629.2	Ensembl	ENSP00000410033.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

RNA transport - Homo sapiens (human)

Biological Process

mRNA export from nucleus
protein import into nucleus
viral process

Molecular Function

protein binding
nuclear localization sequence binding
structural constituent of nuclear pore

Cellular Component

nuclear envelope
nuclear pore
endoplasmic reticulum membrane
integral component of membrane
nuclear membrane

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.;

Recessive Scores

pRec: 0.0840

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.503

Gene Damage Prediction

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