ABI3BP

Chr 3

ABI family member 3 binding protein

Also known as: NESHBP, TARSH

NCBI Gene: 25890 ENSG00000154175 UniProt: Q7Z7G0 OMIM: 606279

Predicted to enable actin filament binding activity. Predicted to be involved in several processes, including extracellular matrix organization; positive regulation of cell-substrate adhesion; and regulation of postsynapse organization. Located in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.56

Clinical Summary— ABI3BP

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

144 VUS of 186 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.56LOEUF

pLI 0.000

Z-score 4.40

OE 0.40 (0.29–0.56)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.83Z-score

OE missense 0.90 (0.83–0.97)

489 obs / 543.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.40 (0.29–0.56)

0≤0.351.4

Missense OE?0.90 (0.83–0.97)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 25 / 62.6Missense obs/exp: 489 / 543.4Syn Z: 1.32

This gene — mechanism propensity

0.6840th %ile

GOF

0.4777th %ile

LOF

0.3941th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

186 submitted variants in ClinVar

ClinVar

Classification Summary

VUS144

Likely Benign7

144

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	144	0	144
Likely Benign	6	1	7
Benign	0	0	0
Total	150	1	151

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 15) ClinVar copy-number / structural variants overlap ABI3BP — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →