PABIR3

protein-coding

PABIR family member 3

Gene summary

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

FAM122C

MANE transcript

NM_001388447.1

Inheritance

—

ClinVar variants

U:68B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chrX:134,796,395-134,854,835

External References & Databases

Ensembl (ENSG00000156500)

Transcript & Mutation Effects

hg38 • Region Span ~58.4 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 PABIR3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 23

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001388447.1. 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			8 clinvar			8
missense			39 clinvar	4 clinvar		43
nonsense			4 clinvar			4
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			17 clinvar			17
Total	0	0	68	4	0	72

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 80 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001388447.1	RefSeq	NP_001375376.1	10	MANE Select
ENST00000645433.2	Ensembl	ENSP00000496338.1	10	MANE Select
NM_001170779.3	RefSeq	NP_001164250.1	7	Standard
NM_001170780.3	RefSeq	NP_001164251.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370784
Coding exons: 7
Length: 57822
Individuals with no LoFs: 123961
Homozygous LoFs: 6
Heterozygous LoFs: 0
Defined: 123967
p: 0.0000242

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0534	67	65.8	1.02	0.00000479	1281
Missense (PolyPhen)		12	12.333	0.97298		200
Synonymous	-0.0636	23	22.6	1.02	0.00000158	361
Loss of Function	0.398	6	7.15	0.839	5.04e-7	123

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000074	0.000055	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.00030	0.00017	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.546
RVIS EVS: 0.35
RVIS percentile EVS: 73.97

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00101

Gene Damage Prediction

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