PABIR2

protein-coding

PABIR family member 2

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:

FAM122B

MANE transcript

NM_001387468.1

Inheritance

—

ClinVar variants

U:96B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chrX:134,769,566-134,797,232

External References & Databases

Ensembl (ENSG00000156504)

Transcript & Mutation Effects

hg38 • Region Span ~27.7 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 PABIR2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 25

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001387468.1. 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			10 clinvar	2 clinvar		12
missense			64 clinvar	1 clinvar		65
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			19 clinvar			19
Total	0	0	96	3	0	99

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001387468.1	RefSeq	NP_001374397.1	10	MANE Select
ENST00000343004.10	Ensembl	ENSP00000339207.6	10	MANE Select
NM_001166599.3	RefSeq	NP_001160071.1	9	Standard
NM_001166600.3	RefSeq	NP_001160072.1	10	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000343004
Coding exons: 10
Length: 27667
Individuals with no LoFs: 125705
Homozygous LoFs: 10
Heterozygous LoFs: 1
Defined: 125716
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.26	65	101	0.646	0.00000754	1754
Missense (PolyPhen)		18	31.072	0.57931		592
Synonymous	-0.556	42	37.7	1.12	0.00000312	494
Loss of Function	2.70	1	10.4	0.0964	7.40e-7	194

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	0.0	absent
Finnish	0.00025	0.00018	rare
European (Non-Finnish)	0.000062	0.000044	rare
South Asian	0.00012	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0816

Intolerance Scores

LoFtool: 0.277
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: 0.383

Gene Damage Prediction

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