APBB1IP

Summary

APBB1IP (amyloid beta precursor protein binding family B member 1 interacting protein, HGNC:17379) is a protein-coding gene on chromosome 10p12.1, encoding Amyloid beta A4 precursor protein-binding family B member 1-interacting protein (Q7Z5R6). Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling.

Predicted to be involved in 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.

Source: NCBI Gene 54518 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 110 total
• MANE Select transcript: NM_019043

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17379
Approved symbol	APBB1IP
Name	amyloid beta precursor protein binding family B member 1 interacting protein
Location	10p12.1
Locus type	gene with protein product
Status	Approved
Aliases	INAG1, RIAM
Ensembl gene	ENSG00000077420
Ensembl biotype	protein_coding
OMIM	609036
Entrez	54518

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000356785, ENST00000376236, ENST00000493857, ENST00000718302, ENST00000872267, ENST00000872268, ENST00000872269, ENST00000872270

RefSeq mRNA: 1 — MANE Select: NM_019043 NM_019043

CCDS: CCDS31167

Canonical transcript exons

ENST00000376236 — 15 exons

Exon	Start	End
ENSE00000695789	26496304	26496391
ENSE00000695793	26503197	26503274
ENSE00000985419	26560105	26560203
ENSE00001216984	26513539	26513660
ENSE00001216991	26511747	26511906
ENSE00001217006	26500819	26501111
ENSE00001301327	26536074	26536217
ENSE00001318728	26533439	26533525
ENSE00001320309	26541582	26541692
ENSE00001401432	26438652	26438853
ENSE00001469852	26566961	26567803
ENSE00001716609	26562326	26562429
ENSE00001949834	26438341	26438455
ENSE00002168949	26492327	26492398
ENSE00003358242	26560730	26560844

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 97.65.

FANTOM5 (CAGE): breadth broad, TPM avg 28.1623 / max 1673.0975, expressed in 846 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104405	13.6075	708
104410	10.9699	760
104403	1.0128	259
104406	0.8470	240
104404	0.5109	246
104402	0.3013	115
104397	0.2209	54
104409	0.2061	114
104412	0.1727	102
104408	0.1235	47

Top tissues by expression

277 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	97.65	gold quality
monocyte	CL:0000576	96.72	gold quality
granulocyte	CL:0000094	96.71	gold quality
inferior vagus X ganglion	UBERON:0005363	96.41	gold quality
trabecular bone tissue	UBERON:0002483	96.31	gold quality
leukocyte	CL:0000738	96.26	gold quality
mononuclear cell	CL:0000842	96.13	gold quality
spleen	UBERON:0002106	94.11	gold quality
synovial joint	UBERON:0002217	93.64	gold quality
mammary duct	UBERON:0001765	93.53	gold quality
lymph node	UBERON:0000029	93.00	gold quality
superficial temporal artery	UBERON:0001614	92.63	gold quality
subthalamic nucleus	UBERON:0001906	92.27	gold quality
superior vestibular nucleus	UBERON:0007227	92.05	gold quality
ventral tegmental area	UBERON:0002691	91.52	gold quality
bone marrow	UBERON:0002371	91.25	gold quality
parietal pleura	UBERON:0002400	90.58	gold quality
adipose tissue	UBERON:0001013	90.32	gold quality
lower lobe of lung	UBERON:0008949	90.21	gold quality
pericardium	UBERON:0002407	90.03	gold quality
parotid gland	UBERON:0001831	89.99	gold quality
connective tissue	UBERON:0002384	89.83	gold quality
right lobe of liver	UBERON:0001114	89.49	gold quality
subcutaneous adipose tissue	UBERON:0002190	89.30	gold quality
epithelium of mammary gland	UBERON:0003244	89.22	gold quality
thymus	UBERON:0002370	88.51	gold quality
mammary gland	UBERON:0001911	88.34	gold quality
pleura	UBERON:0000977	88.33	gold quality
thoracic mammary gland	UBERON:0005200	88.30	gold quality
epithelium of nasopharynx	UBERON:0001951	88.12	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	1673.89
E-MTAB-10290	yes	95.53
E-HCAD-25	yes	24.26
E-HCAD-10	yes	14.52
E-ANND-3	yes	13.65
E-MTAB-9067	yes	13.36
E-MTAB-10042	yes	4.98
E-CURD-119	yes	4.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA, SPI1

miRNA regulators (miRDB)

16 targeting APBB1IP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-5190	99.15	67.76	1234
HSA-MIR-4539	98.78	67.18	888
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-6514-3P	97.52	66.50	808
HSA-MIR-1292-5P	96.74	62.14	238
HSA-MIR-4680-5P	96.43	67.15	893
HSA-MIR-4633-5P	96.17	66.36	501
HSA-MIR-4471	95.11	66.84	755
HSA-MIR-8059	95.11	66.30	646

Literature-anchored findings (GeneRIF, showing 17)

• all-trans-retinoic acid-inducible RARP1 selectively affects signal transduction and may contribute to myeloid and megakaryocytic differentiation.(RARP1) (PMID:14530287)
• Data pinpoint PREL1 as the first direct link between Ras signalling and cytoskeletal remodelling via Ena/VASP proteins during cell migration and spreading. (PMID:15642358)
• a minimized 50-residue Rap-RIAM module containing the talin binding site of RIAM joined to the membrane-targeting sequence of Rap1A. This minimized Rap-RIAM module was sufficient to target talin to the plasma membrane and to mediate integrin activation (PMID:19098287)
• by regulating the localization of PLC-gamma1, RIAM plays a central role in TCR signaling and the transcription of target genes. (PMID:19952372)
• RIAM might contribute to the dissemination of melanoma cells. (PMID:21454517)
• integrin-triggered, RIAM-dependent MEK activation represents a key feedback event required for efficient focal adhesion disassembly. (PMID:22946047)
• RIAM was recruited to the lymphocyte plasma membrane through its Ras association and pleckstrin homology domains, both of which were required for lymphocyte adhesion. (PMID:23045549)
• RIAM is a critical component of the phagocytosis machinery downstream of Rap1 and mediates its function by recruiting talin to the phagocytic complement receptors. (PMID:23420480)
• Disruption of the RIAM/lamellipodin-integrin-talin complex markedly impairs cell migration. (PMID:26419705)
• The Rap1-RIAM-talin axis of integrin activation and blood cell function (PMID:27207789)
• Authors provide an overview of the structure and interactions of RIAM and discuss the implications of RIAM functions in innate and adaptive immunity and cancer. [Review] (PMID:28831022)
• We solved the crystal structure of IN-RA-PH to a resolution of 2.4-A. The structure reveals that the IN segment associates with the RA segment and thereby suppresses RIAM:RAP1 association. This autoinhibitory configuration of RIAM can be released by phosphorylation at Tyr45 in the IN segment. (PMID:30733287)
• RIAM-VASP Module Relays Integrin Complement Receptors in Outside-In Signaling Driving Particle Engulfment. (PMID:32397169)
• Talin dissociates from RIAM and associates to vinculin sequentially in response to the actomyosin force. (PMID:32561773)
• Phosphorylation of RIAM by src promotes integrin activation by unmasking the PH domain of RIAM. (PMID:33275877)
• Structural, biochemical, and functional properties of the Rap1-Interacting Adaptor Molecule (RIAM). (PMID:34601137)
• Expression of the phagocytic receptors alphaMbeta2 and alphaXbeta2 is controlled by RIAM, VASP and Vinculin in neutrophil-differentiated HL-60 cells. (PMID:36238292)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	apbb1ip	ENSDARG00000016505
mus_musculus	Apbb1ip	ENSMUSG00000026786
drosophila_melanogaster	pico	FBGN0261811
caenorhabditis_elegans		WBGENE00003243

Paralogs (4): GRB10 (ENSG00000106070), GRB14 (ENSG00000115290), GRB7 (ENSG00000141738), RAPH1 (ENSG00000173166)

Protein

Protein identifiers

Amyloid beta A4 precursor protein-binding family B member 1-interacting protein — Q7Z5R6 (reviewed: Q7Z5R6)

Alternative names: APBB1-interacting protein 1, Proline-rich EVH1 ligand 1, Proline-rich protein 73, Rap1-GTP-interacting adapter molecule, Retinoic acid-responsive proline-rich protein 1

All UniProt accessions (1): Q7Z5R6

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts, through the N-terminal Pro-rich region, with the WW domain of APBB1. Interacts with RAP1A, PFN1, TLN1, VASP, VCL and ENAH.

Subcellular location. Cell membrane. Cell projection. Lamellipodium. Cell junction. Focal adhesion. Cytoplasm. Cytoskeleton.

Tissue specificity. Widely expressed with high expression in thymus, spleen, lymph node, bone marrow and peripheral leukocytes.

Domain organisation. The two Pro-rich regions are required for the suppression of AP1 transcription activity.

Induction. By all-trans-retinoic acid (ATRA).

Similarity. Belongs to the MRL family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z5R6-1	1	yes
Q7Z5R6-2	2

RefSeq proteins (1): NP_061916* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000159	RA_dom	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR039664	GRB/APBB1IP	Family
IPR039665	PH_APBB1IP	Domain

Pfam: PF00169, PF21989

UniProt features (22 total): compositionally biased region 5, modified residue 4, domain 2, splice variant 2, sequence variant 2, sequence conflict 2, region of interest 2, chain 1, helix 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3ZDL	X-RAY DIFFRACTION	2.3
2MWN	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z5R6-F1	73.37	0.39

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 55, 526, 528, 531

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-354192	Integrin signaling
R-HSA-354194	GRB2:SOS provides linkage to MAPK signaling for Integrins
R-HSA-372708	p130Cas linkage to MAPK signaling for integrins
R-HSA-5674135	MAP2K and MAPK activation
R-HSA-6802946	Signaling by moderate kinase activity BRAF mutants
R-HSA-6802948	Signaling by high-kinase activity BRAF mutants
R-HSA-6802952	Signaling by BRAF and RAF1 fusions
R-HSA-6802955	Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-9649948	Signaling downstream of RAS mutants
R-HSA-9656223	Signaling by RAF1 mutants
R-HSA-109582	Hemostasis
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling
R-HSA-6802949	Signaling by RAS mutants
R-HSA-6802957	Oncogenic MAPK signaling
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76009	Platelet Aggregation (Plug Formation)

MSigDB gene sets: 190 (showing top): GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS, GERY_CEBP_TARGETS, REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS, HOWLIN_PUBERTAL_MAMMARY_GLAND, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, NEMETH_INFLAMMATORY_RESPONSE_LPS_UP, GOBP_IMMUNE_EFFECTOR_PROCESS, MODULE_207, GOBP_LYMPHOCYTE_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, BURTON_ADIPOGENESIS_PEAK_AT_0HR

GO Biological Process (3): T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291), signal transduction (GO:0007165), positive regulation of cell adhesion (GO:0045785)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (10): cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), focal adhesion (GO:0005925), lamellipodium (GO:0030027), T cell receptor complex (GO:0042101), cytoplasm (GO:0005737), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Oncogenic MAPK signaling	6
Signal Transduction	2
Integrin signaling	2
Platelet Aggregation (Plug Formation)	1
RAF/MAP kinase cascade	1
Signaling by RAS mutants	1
Disease	1
MAPK1/MAPK3 signaling	1
MAPK family signaling cascades	1
Diseases of signal transduction by growth factor receptors and second messengers	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
T cell activation involved in immune response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
binding	1
cytoplasm	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
cell-substrate junction	1
cell leading edge	1
plasma membrane bounded cell projection	1
plasma membrane signaling receptor complex	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

2067 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APBB1IP	TLN1	Q9Y490	995
APBB1IP	TLN2	Q9Y4G6	995
APBB1IP	VASP	P50552	993
APBB1IP	SKAP1	Q86WV1	970
APBB1IP	PFN4	Q8NHR9	951
APBB1IP	PFN3	P60673	951
APBB1IP	PFN1	P07737	942
APBB1IP	FERMT3	Q86UX7	941
APBB1IP	FYB1	O15117	895
APBB1IP	RAP1A	P10113	867
APBB1IP	APBB1	O00213	820
APBB1IP	RAP1B	P09526	722
APBB1IP	RASSF5	Q8WWW0	715
APBB1IP	VCL	P18206	699
APBB1IP	PXN	P49023	665

IntAct

15 interactions, top by confidence:

A	B	Type	Score
APBB1IP	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.510
	APBB1IP	psi-mi:“MI:0915”(physical association)	0.370
APBB1IP		psi-mi:“MI:0915”(physical association)	0.370
APBB1IP	ANXA13	psi-mi:“MI:0914”(association)	0.350
APBB1IP	ACTA2	psi-mi:“MI:0914”(association)	0.350
SNW1		psi-mi:“MI:0914”(association)	0.350
	APBB1IP	psi-mi:“MI:0915”(physical association)	0.000
APBB1IP		psi-mi:“MI:0915”(physical association)	0.000
cirA2	APBB1IP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): APBB1IP (Two-hybrid), APBB1IP (Affinity Capture-Western), PLEKHH1 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), APBB1IP (Affinity Capture-MS), PLEKHH1 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), APBB1IP (Two-hybrid), APBB1IP (Reconstituted Complex), TLX3 (Two-hybrid), BAG6 (Two-hybrid), APBB1IP (Affinity Capture-RNA), PLEKHH1 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS)

ESM2 similar proteins: A1A5Q0, A2VDK6, A7Z063, B2RYF7, B5DF93, E1BTG2, O00401, O08816, P49140, P50551, Q02225, Q0IIJ3, Q13191, Q13435, Q28DN4, Q3TC46, Q3UHZ5, Q3UJB0, Q3UQU0, Q5BJU7, Q5NVG8, Q5PQQ2, Q5R8Q4, Q5T8P6, Q5U3K5, Q5ZKA6, Q62415, Q68EF0, Q6NZN0, Q6P0D5, Q6P5Q4, Q6PFT9, Q7Z5R6, Q86TB9, Q8BH43, Q8CH02, Q8IWZ8, Q8N8S7, Q8R5A3, Q8R5H6

Diamond homologs: A0A8I3NFE2, A6QLK6, B5KFD7, D7PF45, F1N9Y5, O15357, O60880, O88900, P0CE43, P29349, P41242, P41243, P42679, P42686, P43403, P43404, P53356, P97573, Q03160, Q13322, Q13588, Q14449, Q14451, Q1RMW5, Q24708, Q5ICW4, Q5ZL23, Q60760, Q6DCV1, Q6P549, Q6PFT9, Q70E73, Q71S10, Q7Z5R6, Q8BMC3, Q8R5A3, Q92835, Q9BG88, Q9ES52, Q9JLM9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

110 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	6
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2095 predictions. Top by Δscore:

Variant	Effect	Δscore
10:26492321:TTTCA:T	acceptor_loss	1.0000
10:26492322:TTCAG:T	acceptor_loss	1.0000
10:26492323:TCA:T	acceptor_loss	1.0000
10:26492324:CA:C	acceptor_loss	1.0000
10:26492325:A:AG	acceptor_gain	1.0000
10:26492325:AGATG:A	acceptor_gain	1.0000
10:26492326:G:C	acceptor_loss	1.0000
10:26492326:G:GG	acceptor_gain	1.0000
10:26492326:GATGG:G	acceptor_gain	1.0000
10:26492394:CTCAG:C	donor_loss	1.0000
10:26492395:TCAGG:T	donor_loss	1.0000
10:26492396:CAGG:C	donor_loss	1.0000
10:26492397:AGGTA:A	donor_loss	1.0000
10:26492398:GG:G	donor_loss	1.0000
10:26492399:GT:G	donor_loss	1.0000
10:26492400:T:A	donor_loss	1.0000
10:26500817:A:AG	acceptor_gain	1.0000
10:26500818:G:GG	acceptor_gain	1.0000
10:26500818:GA:G	acceptor_gain	1.0000
10:26501112:G:GG	donor_gain	1.0000
10:26511743:TCA:T	acceptor_loss	1.0000
10:26511745:A:AG	acceptor_gain	1.0000
10:26511745:AGC:A	acceptor_loss	1.0000
10:26511746:G:GG	acceptor_gain	1.0000
10:26511746:GCTC:G	acceptor_gain	1.0000
10:26511902:AATTG:A	donor_gain	1.0000
10:26511903:ATTG:A	donor_gain	1.0000
10:26511904:TTG:T	donor_gain	1.0000
10:26511905:TG:T	donor_gain	1.0000
10:26511906:GG:G	donor_gain	1.0000

AlphaMissense

4357 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:26536152:T:A	W327R	1.000
10:26536152:T:C	W327R	1.000
10:26536186:G:A	G338E	1.000
10:26536191:T:G	Y340D	1.000
10:26541595:T:C	L353P	1.000
10:26560177:T:A	W410R	1.000
10:26560177:T:C	W410R	1.000
10:26536153:G:C	W327S	0.999
10:26536154:G:C	W327C	0.999
10:26536154:G:T	W327C	0.999
10:26536162:G:C	R330P	0.999
10:26536171:T:C	L333P	0.999
10:26536174:T:C	L334S	0.999
10:26536177:G:C	R335P	0.999
10:26536185:G:A	G338R	0.999
10:26536185:G:C	G338R	0.999
10:26536186:G:T	G338V	0.999
10:26536191:T:C	Y340H	0.999
10:26536204:A:T	K344I	0.999
10:26541595:T:A	L353Q	0.999
10:26560145:T:C	L399P	0.999
10:26560193:G:C	R415P	0.999
10:26560199:C:A	A417D	0.999
10:26536123:T:C	L317P	0.998
10:26536133:A:C	K320N	0.998
10:26536133:A:T	K320N	0.998
10:26536167:T:C	F332L	0.998
10:26536169:T:A	F332L	0.998
10:26536169:T:G	F332L	0.998
10:26536176:C:G	R335G	0.998

dbSNP variants (sampled 300 via entrez): RS1000018341 (10:26516568 C>A,G,T), RS1000031655 (10:26475038 G>T), RS1000039312 (10:26504692 A>G), RS1000048075 (10:26450884 C>G), RS1000060830 (10:26556702 G>A), RS1000086718 (10:26474784 A>G), RS1000116302 (10:26563679 C>T), RS1000132148 (10:26517940 G>A), RS1000148299 (10:26455550 A>C,T), RS1000165374 (10:26548431 T>C), RS1000173508 (10:26488230 AT>A), RS1000190160 (10:26563187 A>C,T), RS1000223343 (10:26522521 A>G,T), RS1000261888 (10:26438381 C>G,T), RS1000326088 (10:26528547 T>C)

Disease associations

OMIM: gene MIM:609036 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST001371_15	Inflammatory biomarkers	5.000000e-07
GCST001520_15	Response to angiotensin II receptor blocker therapy	3.000000e-07
GCST004600_89	Eosinophil percentage of white cells	2.000000e-17
GCST004606_188	Eosinophil count	1.000000e-22
GCST004609_14	Monocyte percentage of white cells	5.000000e-09
GCST004617_180	Eosinophil percentage of granulocytes	2.000000e-17
GCST004618_15	White blood cell count (basophil)	3.000000e-12
GCST004623_135	Neutrophil percentage of granulocytes	5.000000e-19
GCST004624_174	Sum eosinophil basophil counts	1.000000e-25
GCST004628_34	Immature fraction of reticulocytes	6.000000e-12
GCST90002379_80	Basophil count	3.000000e-26
GCST90002380_91	Basophil percentage of white cells	3.000000e-17
GCST90002381_321	Eosinophil count	3.000000e-17
GCST90002381_322	Eosinophil count	1.000000e-13
GCST90002382_180	Eosinophil percentage of white cells	2.000000e-14
GCST90002382_181	Eosinophil percentage of white cells	9.000000e-10
GCST90002385_475	High light scatter reticulocyte count	2.000000e-12
GCST90002386_396	High light scatter reticulocyte percentage of red cells	2.000000e-12
GCST90002387_351	Immature fraction of reticulocytes	4.000000e-16
GCST90002388_551	Lymphocyte count	4.000000e-21
GCST90002388_552	Lymphocyte count	7.000000e-10
GCST90002394_340	Monocyte percentage of white cells	2.000000e-17
GCST90002407_90	White blood cell count	5.000000e-13

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007989	monocyte percentage of leukocytes
EFO:0007996	eosinophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0007994	neutrophil percentage of granulocytes
EFO:0007986	reticulocyte count
EFO:0007992	basophil percentage of leukocytes
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11015149	APBB1IP		0.00	0

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
Benzo(a)pyrene	decreases expression, increases expression, increases methylation, affects methylation	4
Acetaminophen	decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
bisphenol F	increases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
arsenite	increases methylation	1
sulforaphane	decreases expression	1
butyraldehyde	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	increases reaction, affects binding	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Formaldehyde	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.