TRAPPC2B

protein-coding

trafficking protein particle complex subunit 2B

Gene summary

Enables transcription corepressor binding activity; transcription regulator inhibitor activity; and transmembrane transporter binding activity. Involved in positive regulation of gene expression and skeletal system development. Located in endoplasmic reticulum; nuclear outer membrane; and perinuclear region of cytoplasm. Part of TRAPP complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

SEDLP
TRAPPC2P1

MANE transcript

NM_001355204.2

Inheritance

—

ClinVar variants

B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr19:57,363,551-57,365,405

External References & Databases

Ensembl (ENSG00000256060)

Transcript & Mutation Effects

hg38 • Region Span ~1.9 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 TRAPPC2B variants in ClinVar

1 Conditions Cataloged

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001355204.2. 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						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	1	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001355204.2	RefSeq	NP_001342133.1	1	MANE Select
ENST00000543226.2	Ensembl	ENSP00000442778.1	1	MANE Select
ENST00000596755.1	Ensembl	ENSP00000469888.1	1	Standard
ENST00001094257.1	Ensembl	ENSP00000764063.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Post-translational protein modification
Metabolism of proteins
Transport to the Golgi and subsequent modification

Biological Process

endoplasmic reticulum to Golgi vesicle-mediated transport

Cellular Component

nucleus
nucleoplasm
endoplasmic reticulum
endoplasmic reticulum-Golgi intermediate compartment
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000543226
Coding exons: 1
Length: 1843
Individuals with no LoFs: 124535
Homozygous LoFs: 1
Heterozygous LoFs: 54
Defined: 124590
p: 0.000221

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0118	78	77.7	1.00	0.00000414	950
Missense (PolyPhen)		22	19.516	1.1273		286
Synonymous	0.638	23	27.2	0.845	0.00000169	236
Loss of Function	0.175	2	2.29	0.875	9.75e-8	29

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.0022	0.0022	notable
East Asian	0.000056	0.000056	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00018	0.00017	rare
South Asian	0.00023	0.00023	rare
Other	0.00067	0.00066	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi. {ECO:0000269|PubMed:11134351}.;

Recessive Scores

pRec: 0.355