JPT2

protein-coding

Jupiter microtubule associated homolog 2

Gene summary

Involved in endocytosis involved in viral entry into host cell and regulation of calcium-mediated signaling. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C16orf34
HN1L

MANE transcript

NM_144570.3

Inheritance

—

ClinVar variants

U:43B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.27

Max pathogenic AF

—

Genomic locus

chr16:1,678,256-1,702,280

External References & Databases

Ensembl (ENSG00000206053)

Transcript & Mutation Effects

hg38 • Region Span ~24.0 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 JPT2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 42

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144570.3. 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						0
missense			40 clinvar	3 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	43	3	0	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144570.3	RefSeq	NP_653171.1	5	MANE Select
ENST00000248098.8	Ensembl	ENSP00000248098.3	5	MANE Select
NM_001434664.1	RefSeq	NP_001421593.1	7	Standard
NM_001434665.1	RefSeq	NP_001421594.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

nucleus
cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000248098
Coding exons: 5
Length: 24025
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125748
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.448	98	111	0.881	0.00000635	1230
Missense (PolyPhen)		36	43.999	0.8182		469
Synonymous	0.854	35	42.0	0.833	0.00000274	379
Loss of Function	1.81	2	7.29	0.274	3.73e-7	95

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000053	0.000053	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.100

Intolerance Scores

RVIS EVS: 0.08
RVIS percentile EVS: 59.76

Essentials

Essential (gene trap): N