APBB1IP

protein-coding

amyloid beta precursor protein binding family B member 1 interacting protein, the group of Pleckstrin homology domain containing

Gene summary

Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in intracellular signal transduction. Predicted to act upstream of or within T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell and positive regulation of cell adhesion. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_019043.4

Inheritance

—

ClinVar variants

U:90B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr10:26,438,341-26,568,449

External References & Databases

Ensembl (ENSG00000077420)

Transcript & Mutation Effects

hg38 • Region Span ~130.1 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 APBB1IP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019043.4. 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			1 clinvar	2 clinvar	1 clinvar	4
missense			86 clinvar	4 clinvar	3 clinvar	93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	90	6	4	100

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019043.4	RefSeq	NP_061916.3	13	MANE Select
ENST00000376236.9	Ensembl	ENSP00000365411.4	13	MANE Select
ENST00000356785.4	Ensembl	ENSP00000349237.4	3	Standard
ENST00000356785.5	Ensembl	ENSP00000349237.4	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Platelet activation - Homo sapiens (human)
Rap1 signaling pathway - Homo sapiens (human)
TYROBP Causal Network
MAP2K and MAPK activation
Disease

Biological Process

T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell
signal transduction
positive regulation of cell adhesion

Molecular Function

protein binding

Cellular Component

cytosol
cytoskeleton
plasma membrane
focal adhesion
lamellipodium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000376236
Coding exons: 13
Length: 129601
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	1.29	253	317	0.797	0.0000155	4284
Missense (PolyPhen)		84	113.25	0.74172		1475
Synonymous	-1.68	146	122	1.19	0.00000621	1306
Loss of Function	4.06	5	28.3	0.176	0.00000134	362

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin- induced promoter activities through AP1 and SRE. Mediates Rap1- induced adhesion. {ECO:0000269|PubMed:14530287, ECO:0000269|PubMed:15469846}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.403
RVIS EVS: -0.07
RVIS percentile EVS: 48.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.484

Gene Damage Prediction

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