TRAPPC14

protein-coding

trafficking protein particle complex subunit 14, the group of MicroRNA protein coding host genes|Trafficking protein particle complex subunits

Gene summary

Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in centriolar satellite; midbody; and mitotic spindle. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly 25. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C7orf43
MAP11

MANE transcript

NM_018275.5

Inheritance

ClinVar variants

P:1U:11B:8

Top phenotype

Microcephaly 25, primary, autosomal recessive

gnomAD constraint

pLI —, LoF o/e 0.25

Max pathogenic AF

—

Genomic locus

chr7:100,154,420-100,158,723

External References & Databases

Ensembl (ENSG00000146826)

Transcript & Mutation Effects

hg38 • Region Span ~4.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

autosomal recessive primary microcephalySUPPORTIVE

Inheritance Pattern: AR

Disease ID:MONDO:0016660

Submitter: Orphanet

Clinical Genomic Database (CGD)

Microcephaly 25, primary, autosomal recessiveAR

Manifestation: Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 30715179

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TRAPPC14 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 6

TRAPPC14-related disorderTotal: 5

not providedTotal: 3

Microcephaly 25, primary, autosomal recessiveTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018275.5. 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			4 clinvar	5 clinvar	1 clinvar	10
missense			4 clinvar	2 clinvar		6
nonsense	1 clinvar					1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	1	0	11	7	1	20

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018275.5	RefSeq	NP_060745.3	11	MANE Select
ENST00000316937.8	Ensembl	ENSP00000324741.3	11	MANE Select
NM_001303470.2	RefSeq	NP_001290399.1	7	Standard
ENST00000394035.6	Ensembl	ENSP00000377600.3	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

microtubule organizing center
plasma membrane
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000316937
Coding exons: 11
Length: 4296
Individuals with no LoFs: 125738
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 125748
p: 0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.21	205	316	0.649	0.0000192	3645
Missense (PolyPhen)		39	61.548	0.63365		624
Synonymous	-1.09	153	137	1.12	0.00000829	1278
Loss of Function	3.40	6	24.0	0.250	0.00000129	264

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.466
RVIS EVS: -0.54
RVIS percentile EVS: 20.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

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