BAIAP2L1

Summary

BAIAP2L1 (BAR/IMD domain containing adaptor protein 2 like 1, HGNC:21649) is a protein-coding gene on chromosome 7q21.3-q22.1, encoding BAR/IMD domain-containing adapter protein 2-like 1 (Q9UHR4). May function as adapter protein.

This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation.

Source: NCBI Gene 55971 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_018842

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21649
Approved symbol	BAIAP2L1
Name	BAR/IMD domain containing adaptor protein 2 like 1
Location	7q21.3-q22.1
Locus type	gene with protein product
Status	Approved
Aliases	IRTKS
Ensembl gene	ENSG00000006453
Ensembl biotype	protein_coding
OMIM	611877
Entrez	55971

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000005260, ENST00000462558, ENST00000473569, ENST00000479789, ENST00000480580, ENST00000869912, ENST00000869913, ENST00000869914, ENST00000869915, ENST00000869916, ENST00000869917, ENST00000933222, ENST00000933223

RefSeq mRNA: 1 — MANE Select: NM_018842 NM_018842

CCDS: CCDS34687

Canonical transcript exons

ENST00000005260 — 14 exons

Exon	Start	End
ENSE00000707295	98307689	98307896
ENSE00000877538	98306439	98306516
ENSE00000877539	98304196	98304376
ENSE00001040248	98294074	98294111
ENSE00001261415	98291650	98293596
ENSE00003477971	98315460	98315612
ENSE00003483870	98317219	98317356
ENSE00003490111	98310445	98310592
ENSE00003530132	98362357	98362432
ENSE00003577805	98320058	98320129
ENSE00003595275	98355042	98355128
ENSE00003618813	98400802	98401090
ENSE00003631370	98312097	98312264
ENSE00003657484	98320237	98320298

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 99.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3009 / max 353.9976, expressed in 1347 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85055	16.4258	1300
85054	0.8774	409
85053	0.5477	253
85048	0.2552	121
85052	0.1304	47
85050	0.0378	14
85049	0.0266	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	99.51	gold quality
secondary oocyte	CL:0000655	96.94	gold quality
epithelial cell of pancreas	CL:0000083	96.89	gold quality
esophagus squamous epithelium	UBERON:0006920	96.71	gold quality
tendon of biceps brachii	UBERON:0008188	96.43	gold quality
amniotic fluid	UBERON:0000173	95.27	gold quality
cartilage tissue	UBERON:0002418	95.21	gold quality
bronchial epithelial cell	CL:0002328	95.13	gold quality
bronchus	UBERON:0002185	94.69	gold quality
lower esophagus mucosa	UBERON:0035834	93.83	gold quality
duodenum	UBERON:0002114	92.86	gold quality
oocyte	CL:0000023	92.69	gold quality
ileal mucosa	UBERON:0000331	92.24	gold quality
mucosa of transverse colon	UBERON:0004991	92.00	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.81	gold quality
sperm	CL:0000019	91.62	gold quality
nasal cavity epithelium	UBERON:0005384	91.44	gold quality
jejunal mucosa	UBERON:0000399	91.22	gold quality
islet of Langerhans	UBERON:0000006	90.19	gold quality
body of pancreas	UBERON:0001150	90.12	gold quality
body of stomach	UBERON:0001161	90.02	gold quality
colonic mucosa	UBERON:0000317	90.00	gold quality
esophagus mucosa	UBERON:0002469	89.96	gold quality
rectum	UBERON:0001052	89.78	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.68	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.49	gold quality
pancreas	UBERON:0001264	89.42	gold quality
stomach	UBERON:0000945	88.99	gold quality
adrenal tissue	UBERON:0018303	88.81	gold quality
right lobe of liver	UBERON:0001114	88.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.45
E-MTAB-7249	no	76.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

58 targeting BAIAP2L1, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-302A-5P	99.39	68.21	1913

Literature-anchored findings (GeneRIF, showing 17)

• Study characterised IRTKS, which has widespread tissue distribution, is a substrate for the insulin receptor and binds Rac, and expression of IRTKS induces clusters of short actin bundles rather than filopodia-like protrusions. (PMID:17430976)
• Screening of the mammalian SH3 proteome for the ability to bind EspF(U) identified the SH3 domain of insulin receptor tyrosine kinase substrate (IRTKS), a factor known to regulate the cytoskeleton. (PMID:19366662)
• Results describe the NMR structure of insulin receptor tyrosine kinase substrate (IRTKS) SH3 domain in complex with a repeat from Escherichia coli-secreted protein F-like protein encoded on prophage U (EspF(U)). (PMID:21098279)
• data suggest Src-stimulated IRTKS phosphorylation is essential for its function in cell motility (PMID:21840312)
• These data suggest that IRTKS is a novel regulator of p53, modulating low level of MDM2-mediated p53 ubiquitination in unstressed cells. (PMID:21887275)
• Identification of a novel oncogenic FGFR3-BAIAP2L1 fusion protein in bladder cancer. (PMID:23175443)
• IRTKS can interact with epidermal growth factor receptor (EGFR), results in the phosphorylation of extracellular signal-regulated kinase (PMID:23693078)
• Lacking the Bin-Amphiphysin-Rvs (BAR) dimerization domain of BAIAP2L1. (PMID:25589496)
• Upregulation of BAIAP2L1 is associated with ovarian cancer. (PMID:26222696)
• Rho family GTPases use the I-BAR proteins, IRSp53 (also known as BAIAP2), IRTKS and Pinkbar, as a central mechanism to modulate cell morphology. (PMID:27278019)
• IRTKS promoted serum-induced cell migration along with enhanced phosphorylation of mitogen activated kinases Erk1/2 and p38, and activation of small GTPases Rac1 and Cdc42. In addition, cells overexpressing IRTKS exhibited an increased polarity characterized by elongated cytoplasm and extensive lamellipodia at leading edges. (PMID:27693783)
• IRTKS localizes to the distal tips of actively growing microvilli via a mechanism that requires its N-terminal I-BAR domain. At microvillar tips, IRTKS promotes elongation through a mechanism involving its C-terminal actin-binding WH2 domain. (PMID:30197089)
• BAIAP2L1 enables cancer cell migration and facilitates phospho-Cofilin asymmetry localization in the border cells. (PMID:34811939)
• Insulin receptor tyrosine kinase substrate (IRTKS) promotes the tumorigenesis of pancreatic cancer via PI3K/AKT signaling. (PMID:36057038)
• BAIAP2L1 accelerates breast cancer progression and chemoresistance by activating AKT signaling through binding with ribosomal protein L3. (PMID:36308067)
• IRTKS contributes to the malignant progression of cervical cancer cells. (PMID:38869721)
• Heterochromatin formation and remodeling by IRTKS condensates counteract cellular senescence. (PMID:39192031)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	baiap2l1a	ENSDARG00000029305
danio_rerio	baiap2l1b	ENSDARG00000031119
mus_musculus	Baiap2l1	ENSMUSG00000038859
rattus_norvegicus	Baiap2l1	ENSRNOG00000001007
drosophila_melanogaster	IRSp53	FBGN0052082

Paralogs (2): BAIAP2L2 (ENSG00000128298), BAIAP2 (ENSG00000175866)

Protein

Protein identifiers

BAR/IMD domain-containing adapter protein 2-like 1 — Q9UHR4 (reviewed: Q9UHR4)

Alternative names: Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1, Insulin receptor tyrosine kinase substrate

All UniProt accessions (1): Q9UHR4

UniProt curated annotations — full annotation on UniProt →

Function. May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection.

Subunit / interactions. Interacts with RAC1. Binds to F-actin. Interacts with FASLG. Interacts (via SH3 domain) with E.coli effector protein EspF(U) (via PXXP motifs). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli EspF(U). Interacts with E.coli intimin receptor Tir.

Subcellular location. Cytoplasm. Cytoskeleton.

Post-translational modifications. Phosphorylated on tyrosine in response to insulin.

Domain organisation. The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation.

RefSeq proteins (1): NP_061330* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR013606	I-BAR_dom	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR027681	IRSp53/IRTKS/Pinkbar	Family
IPR030060	Baiap2l1_I-BAR_dom	Domain
IPR035592	IRTKS_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily

Pfam: PF08397, PF14604

UniProt features (36 total): modified residue 10, strand 6, mutagenesis site 5, sequence conflict 5, region of interest 3, domain 2, chain 1, sequence variant 1, helix 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2KXC	SOLUTION NMR
2LNH	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHR4-F1	74.26	0.51

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 (10): 261, 281, 331, 354, 412, 414, 420, 422, 248, 257

Mutagenesis-validated functional residues (5):

Position	Phenotype
141	loss ability to induce the formation of actin clusters; when associated with k-142; r-145 and k-146.
142	loss ability to induce the formation of actin clusters; when associated with k-141; r-145 and k-146.
145	loss ability to induce the formation of actin clusters; when associated with k-141; k-142 and k-146.
146	loss ability to induce the formation of actin clusters; when associated with k-141; k-142 and r-145.
488–511	loss ability to induce the formation of actin clusters; induce the formation of long filopodia.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-9035034	RHOF GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 150 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, PATIL_LIVER_CANCER, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, MODULE_239, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, TGACATY_UNKNOWN, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION

GO Biological Process (7): plasma membrane organization (GO:0007009), positive regulation of actin filament polymerization (GO:0030838), regulation of actin cytoskeleton organization (GO:0032956), actin filament bundle assembly (GO:0051017), actin crosslink formation (GO:0051764), regulation of actin filament polymerization (GO:0030833), cell-cell adhesion (GO:0098609)

GO Molecular Function (4): actin binding (GO:0003779), proline-rich region binding (GO:0070064), cadherin binding involved in cell-cell adhesion (GO:0098641), protein binding (GO:0005515)

GO Cellular Component (8): nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), adherens junction (GO:0005912), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	4
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
actin filament polymerization	2
endomembrane system organization	1
membrane organization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
cellular component assembly	1
actin filament bundle organization	1
actin filament organization	1
regulation of actin polymerization or depolymerization	1
regulation of protein polymerization	1
cell adhesion	1
cytoskeletal protein binding	1
protein binding	1
cadherin binding	1
cell-cell adhesion	1
cell-cell adhesion mediator activity	1
binding	1
nuclear lumen	1
cytoplasm	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
cell-cell junction	1
extracellular vesicle	1
intracellular anatomical structure	1
cytoskeleton	1

Protein interactions and networks

STRING

1108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BAIAP2L1	CDC42	P21181	728
BAIAP2L1	WAS	P42768	687
BAIAP2L1	TACC3	Q9Y6A5	635
BAIAP2L1	WASF2	Q9Y6W5	618
BAIAP2L1	MTSS2	Q765P7	538
BAIAP2L1	WASL	O00401	535
BAIAP2L1	AKT1	P31749	526
BAIAP2L1	BICC1	Q9H694	519
BAIAP2L1	EPS8	Q12929	512
BAIAP2L1	FGFR3	P22607	508
BAIAP2L1	AMPH	P49418	478
BAIAP2L1	NCK1	P16333	456
BAIAP2L1	SHANK1	Q9Y566	452
BAIAP2L1	RET	P07949	451
BAIAP2L1	TACC1	O75410	447

IntAct

125 interactions, top by confidence:

A	B	Type	Score
AP2M1	ATG9A	psi-mi:“MI:0915”(physical association)	0.890
BAIAP2	YWHAZ	psi-mi:“MI:0914”(association)	0.800
BAIAP2L1	“espF	psi-mi:“MI:0407”(direct interaction)	0.770
“espF	BAIAP2L1	psi-mi:“MI:0407”(direct interaction)	0.770
BAIAP2	YWHAQ	psi-mi:“MI:0914”(association)	0.740
BAIAP2L1	EPS8	psi-mi:“MI:0407”(direct interaction)	0.720
BAIAP2L1	EPS8	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
BAIAP2L1	BAIAP2	psi-mi:“MI:0915”(physical association)	0.710
PSMD14	PSMD11	psi-mi:“MI:0914”(association)	0.650
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
BAIAP2L1	BAIAP2	psi-mi:“MI:0915”(physical association)	0.560
LANCL1	BAIAP2L1	psi-mi:“MI:0915”(physical association)	0.560
BAG3	BAIAP2L1	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	BAIAP2L1	psi-mi:“MI:0915”(physical association)	0.560
BAIAP2	WASL	psi-mi:“MI:0914”(association)	0.550
PRKAB2	PRKAB2	psi-mi:“MI:0914”(association)	0.550
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
MARVELD2	GAP43	psi-mi:“MI:0914”(association)	0.530
PWWP3A	SMC6	psi-mi:“MI:0914”(association)	0.530
EPS8L1	DHPS	psi-mi:“MI:0914”(association)	0.530
tir	BAIAP2L1	psi-mi:“MI:0915”(physical association)	0.510

BioGRID (177): BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Proximity Label-MS), BAIAP2L1 (Proximity Label-MS), BAIAP2L1 (Proximity Label-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS)

ESM2 similar proteins: A7MBI0, D3ZYR1, O13154, O43586, O55148, O60749, O60861, P09760, P16591, P70451, P97531, P97814, Q0JRZ9, Q15642, Q2HWF0, Q3KR97, Q3UQN2, Q4V920, Q5R411, Q5R807, Q5RCJ1, Q5T0N5, Q5U3Q6, Q60780, Q61644, Q6DCZ7, Q6GNV5, Q6GUF4, Q8CJ53, Q8I190, Q8I1A6, Q8I1C0, Q8I1I3, Q8K012, Q8T390, Q91VH2, Q99JB8, Q99M15, Q99N27, Q9BY11

Diamond homologs: A6H7G2, E2RP94, E9Q5F9, G5EC32, M0R4F8, O15428, O35964, O42287, O43125, O55043, O55148, O60861, P10569, P70297, Q14155, Q15811, Q3KR97, Q5XHY7, Q60780, Q62418, Q62419, Q6GM14, Q6TXD4, Q6XZF7, Q7ZXQ9, Q8BZZ3, Q8R550, Q91ZR2, Q925Q9, Q92783, Q96B97, Q96RF0, Q9BYW2, Q9ES28, Q9JHL4, Q9N2Z7, Q9UHR4, Q9UJU6, Q9VU84, Q9WVE9

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
SRC	“up-regulates activity”	BAIAP2L1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 133 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	50.8×	1e-07
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	44.8×	2e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	44.8×	2e-07
Activation of BH3-only proteins	6	33.1×	1e-06
RHO GTPases activate PKNs	6	21.1×	2e-05
Intrinsic Pathway for Apoptosis	6	19.5×	2e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	11	18.9×	7e-09
EPH-ephrin mediated repulsion of cells	7	17.1×	9e-06

GO biological processes:

GO term	Partners	Fold	FDR
substantia nigra development	6	19.3×	7e-04
protein targeting	5	16.1×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2901 predictions. Top by Δscore:

Variant	Effect	Δscore
7:98293592:CTCCG:C	acceptor_gain	1.0000
7:98293593:TCCG:T	acceptor_gain	1.0000
7:98293594:CCG:C	acceptor_gain	1.0000
7:98293594:CCGC:C	acceptor_gain	1.0000
7:98293595:CG:C	acceptor_gain	1.0000
7:98293595:CGC:C	acceptor_gain	1.0000
7:98293597:C:CC	acceptor_gain	1.0000
7:98304379:C:CT	acceptor_gain	1.0000
7:98304385:C:CT	acceptor_gain	1.0000
7:98304386:A:T	acceptor_gain	1.0000
7:98307682:GACTT:G	donor_loss	1.0000
7:98307683:ACTT:A	donor_loss	1.0000
7:98307684:CTT:C	donor_loss	1.0000
7:98307685:TTAC:T	donor_loss	1.0000
7:98307686:TACG:T	donor_loss	1.0000
7:98307687:A:AC	donor_gain	1.0000
7:98307687:A:T	donor_loss	1.0000
7:98307687:ACG:A	donor_gain	1.0000
7:98307687:ACGC:A	donor_gain	1.0000
7:98307688:C:CT	donor_gain	1.0000
7:98307688:CG:C	donor_gain	1.0000
7:98307688:CGC:C	donor_gain	1.0000
7:98307688:CGCC:C	donor_gain	1.0000
7:98307688:CGCCT:C	donor_gain	1.0000
7:98312261:CAGA:C	acceptor_gain	1.0000
7:98312262:AGA:A	acceptor_gain	1.0000
7:98312263:GA:G	acceptor_gain	1.0000
7:98312264:AC:A	acceptor_loss	1.0000
7:98312265:C:A	acceptor_loss	1.0000
7:98312265:C:CC	acceptor_gain	1.0000

AlphaMissense

3356 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:98306505:A:G	F392S	0.999
7:98306509:A:G	W391R	0.999
7:98306509:A:T	W391R	0.999
7:98307720:A:G	W378R	0.999
7:98307720:A:T	W378R	0.999
7:98307710:C:T	G381E	0.998
7:98312231:A:G	W225R	0.998
7:98312231:A:T	W225R	0.998
7:98315524:C:G	R192P	0.998
7:98293581:A:C	F492L	0.997
7:98293581:A:T	F492L	0.997
7:98293583:A:G	F492L	0.997
7:98306504:G:C	F392L	0.997
7:98306504:G:T	F392L	0.997
7:98306506:A:G	F392L	0.997
7:98307718:C:A	W378C	0.997
7:98307718:C:G	W378C	0.997
7:98315525:G:T	R192S	0.997
7:98320289:A:G	L75P	0.997
7:98362366:C:G	A40P	0.997
7:98362384:C:G	G34R	0.997
7:98362384:C:T	G34R	0.997
7:98306507:C:A	W391C	0.996
7:98306507:C:G	W391C	0.996
7:98306511:C:T	G390D	0.996
7:98306512:C:G	G390R	0.996
7:98312229:C:A	W225C	0.996
7:98312229:C:G	W225C	0.996
7:98315512:A:G	L196P	0.996
7:98315545:G:T	A185D	0.996

dbSNP variants (sampled 300 via entrez): RS1000013887 (7:98300929 C>T), RS1000079497 (7:98306360 A>G), RS1000096763 (7:98358146 T>C), RS1000122416 (7:98387784 C>T), RS1000127647 (7:98377133 T>C), RS1000171402 (7:98343885 C>T), RS1000180618 (7:98376795 G>A), RS1000184702 (7:98317164 A>T), RS1000185489 (7:98332765 C>G,T), RS1000223866 (7:98393537 G>A), RS1000244522 (7:98338160 T>C), RS1000255250 (7:98301148 T>A,C), RS1000269985 (7:98347202 C>G,T), RS1000319729 (7:98391210 G>A), RS1000333629 (7:98349303 G>A)

Disease associations

OMIM: gene MIM:611877 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST001612_16	Sex hormone-binding globulin levels	3.000000e-08
GCST001762_25	Obesity-related traits	8.000000e-06
GCST005024_27	Pursuit maintenance gain	9.000000e-06
GCST010243_49	Apolipoprotein B levels	3.000000e-15
GCST010245_27	LDL cholesterol levels	2.000000e-09
GCST90002389_159	Lymphocyte percentage of white cells	3.000000e-20
GCST90002398_385	Neutrophil count	3.000000e-17
GCST90002399_183	Neutrophil percentage of white cells	7.000000e-15
GCST90002407_486	White blood cell count	2.000000e-12
GCST90013406_46	Liver enzyme levels (alkaline phosphatase)	8.000000e-16

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004696	sex hormone-binding globulin measurement
EFO:0008433	pursuit maintenance gain measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Smoke	decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
methylparaben	decreases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	increases expression	1
nickel sulfate	increases expression	1
coumarin	affects phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1

Clinical trials (associated diseases)

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