EHD2

Summary

EHD2 (EH domain containing 2, HGNC:3243) is a protein-coding gene on chromosome 19q13.33, encoding EH domain-containing protein 2 (Q9NZN4). ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis.

This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway.

Source: NCBI Gene 30846 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_014601

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3243
Approved symbol	EHD2
Name	EH domain containing 2
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000024422
Ensembl biotype	protein_coding
OMIM	605890
Entrez	30846

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000263277, ENST00000538399, ENST00000540884, ENST00000596225, ENST00000602215, ENST00000899413, ENST00000899414, ENST00000939793, ENST00000953088, ENST00000953089

RefSeq mRNA: 1 — MANE Select: NM_014601 NM_014601

CCDS: CCDS12704

Canonical transcript exons

ENST00000263277 — 6 exons

Exon	Start	End
ENSE00001048990	47740881	47743134
ENSE00002231079	47713422	47713538
ENSE00002530770	47725812	47726224
ENSE00002724240	47716558	47717016
ENSE00003505567	47718509	47718606
ENSE00003519677	47736369	47736533

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 87.3450 / max 2200.6420, expressed in 1490 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176698	85.8237	1483
176699	0.5314	313
176700	0.4698	285
208879	0.2427	119
176701	0.2378	120
176703	0.0395	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	98.68	gold quality
right coronary artery	UBERON:0001625	98.59	gold quality
popliteal artery	UBERON:0002250	98.29	gold quality
tibial artery	UBERON:0007610	98.28	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.21	gold quality
lower esophagus	UBERON:0013473	98.19	gold quality
olfactory bulb	UBERON:0002264	98.08	silver quality
subcutaneous adipose tissue	UBERON:0002190	98.07	gold quality
aorta	UBERON:0000947	98.03	gold quality
omental fat pad	UBERON:0010414	98.01	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.98	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.97	gold quality
peritoneum	UBERON:0002358	97.96	gold quality
coronary artery	UBERON:0001621	97.95	gold quality
left coronary artery	UBERON:0001626	97.94	gold quality
descending thoracic aorta	UBERON:0002345	97.90	gold quality
adipose tissue	UBERON:0001013	97.83	gold quality
thoracic aorta	UBERON:0001515	97.75	gold quality
ascending aorta	UBERON:0001496	97.72	gold quality
right lung	UBERON:0002167	97.50	gold quality
connective tissue	UBERON:0002384	97.32	gold quality
endocervix	UBERON:0000458	97.31	gold quality
mucosa of stomach	UBERON:0001199	97.28	gold quality
left uterine tube	UBERON:0001303	97.11	gold quality
body of uterus	UBERON:0009853	96.98	gold quality
type B pancreatic cell	CL:0000169	96.94	gold quality
upper lobe of left lung	UBERON:0008952	96.93	gold quality
upper lobe of lung	UBERON:0008948	96.92	gold quality
ectocervix	UBERON:0012249	96.89	gold quality
apex of heart	UBERON:0002098	96.82	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	43.62
E-MTAB-6678	yes	27.77
E-ANND-3	yes	22.21
E-HCAD-11	yes	19.57
E-MTAB-5061	yes	10.97
E-GEOD-134144	yes	9.86
E-MTAB-9543	yes	9.58
E-GEOD-83139	yes	6.65
E-ENAD-27	yes	6.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

94 targeting EHD2, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-670-5P	99.67	69.94	1565

Literature-anchored findings (GeneRIF, showing 22)

• A new class of cardiac trafficking proteins(EHD1, EHD2, EHD3, EHD4) regulates cardiac membrane protein targeting. (PMID:20489164)
• EHD2 regulates trafficking from the plasma membrane by controlling Rac1 activity. (PMID:21756249)
• Assembly of EHD2 stabilized and constrained caveolae to the plasma membrane to control turnover, and depletion of EHD2, resulting in endocytic and more dynamic and short-lived caveolae. (PMID:22323287)
• Among three EHD proteins (EHD1-EHD3) that were tested, only EHD2 accumulates in the nucleus under nuclear export inhibition treatment. (PMID:22448906)
• Confining caveolae to the plasma membrane by EHD2 relied on its capacity to link caveolae to actin filaments. (PMID:22505029)
• EHD2 participates in the sarcolemma repair. (PMID:22679923)
• Our results suggested that EHD2 low expression is involved in the pathogenesis of human esophageal squamous cell carcinoma (PMID:23354948)
• Phosphatidylinositol 4,5-bisphosphate controls EHD2 plasma membrane localization. (PMID:24040268)
• Downregulation of EHD2 was associated with migration and invasion by abrogating the expression of Rac1 in breast cancer patients. (PMID:25557791)
• EHD2 can inhibit the metastasis of human breast cancer by regulating the epithelial-to-mesenchymal transition markers E-cadherin and N-cadherin. (PMID:25758127)
• Data suggest that the EH-domain containing 2 protein (EHD2) NPF phenylalanine residue is crucial for EHD2 localization to the plasma membrane, whereas the proline residue is essential for EHD2 dimerization and binding. (PMID:25875965)
• EHD2 expression, along with the epithelial marker E-cadherin, was markedly reduced in tumor tissues than in adjacent noncancerous tissues. Molecular data indicated that EHD2 inhibited migration and invasion of hepatocellular carcinoma probably by interacting with E-cadherin. (PMID:27221498)
• Our prognostic model is useful for predicting persistent/recurrent disease after surgery of Papillary thyroid carcinoma (PTC). EHD2 mRNA expression could be a novel prognostic marker for PTC patients. (PMID:28358874)
• findings therefore define EHD2 as a central player in mechanotransduction connecting the disassembly of the caveolae reservoir with the regulation of gene transcription under mechanical stress. (PMID:30348749)
• EHD2 overexpression in human adipocytes increased the lipolytic signaling and suppressed the activity of transcription factor PPARgamma. Overall, these data suggest that EHD2 plays a key role for adipocyte function. (PMID:30811273)
• EHD2 can promote the proliferation, invasion, and migration and inhibit the apoptosis of clear cell renal cell carcinoma (ccRCC) cells, so EHD2 interference can significantly inhibit the development of ccRCC, and EHD2 can potentially serve as a molecular target for the clinical treatment of ccRCC. (PMID:30995867)
• EHD2-controlled caveolar dynamics orchestrates the activity and regulation of eNOS/nitric oxide and Ca2+ channel localization at the plasma membrane. (PMID:31600286)
• EHD2-mediated restriction of caveolar dynamics regulates cellular fatty acid uptake. (PMID:32170013)
• TUSC8 inhibits the development of osteosarcoma by sponging miR1973p and targeting EHD2. (PMID:32945345)
• EHD2 Overexpression Suppresses the Proliferation, Migration, and Invasion in Human Colon Cancer. (PMID:33356637)
• Hypoxia-induced macropinocytosis represents a metabolic route for liver cancer. (PMID:35177645)
• Circular RNA Eps15-homology domain-containing protein 2 induce resistance of renal cell carcinoma to sunitinib via microRNA-4731-5p/ABCF2 axis. (PMID:35412955)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	ehd2a	ENSDARG00000035137
danio_rerio	ehd2b	ENSDARG00000040362
mus_musculus	Ehd2	ENSMUSG00000074364
rattus_norvegicus	Ehd2	ENSRNOG00000011346
drosophila_melanogaster	Dap160	FBGN0023388
drosophila_melanogaster	Eps-15	FBGN0035060
caenorhabditis_elegans		WBGENE00001224
caenorhabditis_elegans		WBGENE00006405

Paralogs (10): EHD3 (ENSG00000013016), EPS15 (ENSG00000085832), EHD4 (ENSG00000103966), EHD1 (ENSG00000110047), EPS15L1 (ENSG00000127527), REPS1 (ENSG00000135597), REPS2 (ENSG00000169891), SRL (ENSG00000185739), ITSN2 (ENSG00000198399), ITSN1 (ENSG00000205726)

Protein

Protein identifiers

EH domain-containing protein 2 — Q9NZN4 (reviewed: Q9NZN4)

Alternative names: PAST homolog 2

All UniProt accessions (2): Q9NZN4, M0R1B9

UniProt curated annotations — full annotation on UniProt →

Function. ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in membrane trafficking between the plasma membrane and endosomes. Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane. Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane.

Subunit / interactions. Homodimer and homooligomer. Interacts with EHD1. May also interact with EHD3 and EHD4. Interacts with MYOF. Interacts with EHBP1. Interacts with FER1L5 (via second C2 domain). Interacts with CAV1 in a cholesterol-dependent manner. Interacts (via EH domain) with PACSIN2 (via NPF motifs); this interaction probably stabilizes the caveolae.

Subcellular location. Cell membrane. Membrane. Caveola. Endosome membrane. Cytoplasm. Cytosol.

Tissue specificity. Highly expressed in heart and moderately expressed in placenta, lung, and skeletal muscle.

Activity regulation. The very low intrinsic ATPase activity is increased upon interaction with liposomes.

Domain organisation. The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.

Similarity. Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NZN4-1	1	yes
Q9NZN4-2	2

RefSeq proteins (1): NP_055416* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000261	EH_dom	Domain
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030381	G_DYNAMIN_dom	Domain
IPR031692	EHD_N	Domain
IPR040990	DUF5600	Domain
IPR045063	Dynamin_N	Domain

Pfam: PF00350, PF12763, PF16880, PF18150

UniProt features (38 total): binding site 8, region of interest 7, mutagenesis site 7, modified residue 6, domain 3, sequence conflict 2, chain 1, short sequence motif 1, compositionally biased region 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZN4-F1	87.15	0.69

Functional residue map

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

Ligand- & substrate-binding residues (8): 65–72; 220; 258; 494; 496; 498; 500; 505

Post-translational modifications (6): 3, 438, 468, 470, 484, 493

Mutagenesis-validated functional residues (7):

Position	Phenotype
72	incapable of binding membranes and localizing to caveolae.
94	lowers the level of cav1; distorded caveolae.
120	complete loss of localization to cav1 positive caveolae.
122	complete loss of localization to cav1 positive caveolae.
128	no effect on caveolae targeting.
192	distorded caveolae.
193	distorded caveolae.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 183 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_REGULATION_OF_SYNCYTIUM_FORMATION_BY_PLASMA_MEMBRANE_FUSION

GO Biological Process (8): endocytosis (GO:0006897), cortical actin cytoskeleton organization (GO:0030866), endocytic recycling (GO:0032456), cilium assembly (GO:0060271), protein localization to plasma membrane (GO:0072659), plasma membrane tubulation (GO:0097320), positive regulation of myoblast fusion (GO:1901741), positive regulation of endocytic recycling (GO:2001137)

GO Molecular Function (11): nucleic acid binding (GO:0003676), calcium ion binding (GO:0005509), ATP binding (GO:0005524), GTP binding (GO:0005525), hydrolase activity (GO:0016787), protein domain specific binding (GO:0019904), protein-macromolecule adaptor activity (GO:0030674), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (13): nucleus (GO:0005634), cytoplasm (GO:0005737), early endosome (GO:0005769), cytosol (GO:0005829), plasma membrane (GO:0005886), caveola (GO:0005901), endosome membrane (GO:0010008), membrane (GO:0016020), endocytic vesicle (GO:0030139), perinuclear region of cytoplasm (GO:0048471), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), endosome (GO:0005768)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein binding	3
binding	2
purine ribonucleoside triphosphate binding	2
endosome	2
cytoplasm	2
cytoplasmic vesicle	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
cortical cytoskeleton organization	1
endosomal transport	1
vesicle-mediated transport to the plasma membrane	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein localization to membrane	1
protein localization to cell periphery	1
plasma membrane organization	1
myoblast fusion	1
positive regulation of syncytium formation by plasma membrane fusion	1
regulation of myoblast fusion	1
positive regulation of intracellular transport	1
endocytic recycling	1
regulation of endocytic recycling	1
metal ion binding	1
adenyl ribonucleotide binding	1
guanyl ribonucleotide binding	1
catalytic activity	1
molecular adaptor activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
cation binding	1

Protein interactions and networks

STRING

1060 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EHD2	EHBP1	Q8NDI1	996
EHD2	PACSIN2	Q9UNF0	856
EHD2	DYSF	O75923	842
EHD2	RAB10	P61026	840
EHD2	CAVIN1	Q6NZI2	807
EHD2	FER1L5	A0AVI2	737
EHD2	MYOF	Q9NZM1	730
EHD2	CAV1	Q03135	691
EHD2	CAVIN2	O95810	648
EHD2	DNM2	P50570	648
EHD2	CNN1	P51911	639
EHD2	CAVIN3	Q969G5	609
EHD2	SLC2A4	P14672	603
EHD2	CAV2	P51636	518
EHD2	MICALL1	Q8N3F8	477

IntAct

45 interactions, top by confidence:

A	B	Type	Score
PPP4R3A	PPP4C	psi-mi:“MI:0914”(association)	0.920
PIK3R3	PIK3CD	psi-mi:“MI:0914”(association)	0.800
EHD2	EHD4	psi-mi:“MI:0914”(association)	0.640
GPAT4	GSDME	psi-mi:“MI:0914”(association)	0.530
NEK7	EML3	psi-mi:“MI:0914”(association)	0.530
EHD2	ANK2	psi-mi:“MI:0915”(physical association)	0.400
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
RBSN	EHD2	psi-mi:“MI:0915”(physical association)	0.370
BPGM	EHD2	psi-mi:“MI:0915”(physical association)	0.370
TAGLN2	EHD2	psi-mi:“MI:0915”(physical association)	0.370
PICK1	EHD2	psi-mi:“MI:0915”(physical association)	0.370
DDX56	EHD2	psi-mi:“MI:0915”(physical association)	0.370
TBC1D23	EHD2	psi-mi:“MI:0915”(physical association)	0.370
EHD2	SPATA24	psi-mi:“MI:0915”(physical association)	0.370
	VWA8	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
EHD4	DNAJA2	psi-mi:“MI:0914”(association)	0.350
ZSCAN29	GSDME	psi-mi:“MI:0914”(association)	0.350
GABRA6	HMGCR	psi-mi:“MI:0914”(association)	0.350
SH2D3C	TMEM14DP	psi-mi:“MI:0914”(association)	0.350
ZDHHC5	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
PA	DDX39A	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
RYBP	PIPSL	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): CCT3 (Co-fractionation), CCT4 (Co-fractionation), CCT6A (Co-fractionation), CCT7 (Co-fractionation), CCT8 (Co-fractionation), CLTC (Co-fractionation), PPP2R1A (Co-fractionation), EHD2 (Affinity Capture-MS), EHD2 (Affinity Capture-MS), EHD2 (Affinity Capture-MS), EHD2 (Affinity Capture-MS), SLC2A4 (Affinity Capture-Western), EHD2 (Reconstituted Complex), EHD2 (Reconstituted Complex), EHD2 (Reconstituted Complex)

ESM2 similar proteins: A0JPQ9, O14657, O14672, O19015, O35598, P09958, P16098, P23188, P23377, P58780, P82993, Q01458, Q01460, Q08169, Q0JJD4, Q10741, Q10743, Q10RB4, Q1L8D2, Q28193, Q29LW1, Q29NU5, Q4V8H8, Q58D55, Q5EAB4, Q5GF25, Q5RFF6, Q66IL0, Q68EX9, Q6NXH2, Q6ZJJ0, Q7SYK0, Q7Z1Z1, Q8BH64, Q8MLZ7, Q8MX31, Q8MX32, Q8MX40, Q8T0R7, Q922Q9

Diamond homologs: A1CD74, A1CPG1, A1D2B8, A1DC51, A1DDY6, A2QRG2, A2R180, A3LN86, A3M008, A4R8N4, A5DF78, A5DP36, A5DVD6, A5DXI9, A6R7X5, A6RFP4, A6S9N4, A6SIJ6, A7E7N7, A7EKZ0, B0XR88, B0YC95, B2AS96, B2AWS3, L7IIY8, O42287, O54916, O94685, P0CT09, P32521, P42566, P42567, Q0CPW4, Q0D0N9, Q1DQC1, Q1DUU2, Q2H2V8, Q2H922, Q2UCH0, Q2UDY8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 55 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.

GO biological processes:

GO term	Partners	Fold	FDR
endocytosis	6	12.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

894 predictions. Top by Δscore:

Variant	Effect	Δscore
19:47716557:GGC:G	acceptor_gain	1.0000
19:47716557:GGCA:G	acceptor_gain	1.0000
19:47716856:G:GT	donor_gain	1.0000
19:47718604:GCG:G	donor_gain	1.0000
19:47718607:G:GG	donor_gain	1.0000
19:47726221:GCGA:G	donor_gain	1.0000
19:47726223:GA:G	donor_gain	1.0000
19:47726225:G:GG	donor_gain	1.0000
19:47736531:CAGG:C	donor_loss	1.0000
19:47736534:G:A	donor_loss	1.0000
19:47736535:T:A	donor_loss	1.0000
19:47736538:G:T	donor_gain	1.0000
19:47713535:GTCG:G	donor_gain	0.9900
19:47713536:TCG:T	donor_gain	0.9900
19:47713536:TCGG:T	donor_loss	0.9900
19:47713537:CGG:C	donor_loss	0.9900
19:47713538:GGTG:G	donor_loss	0.9900
19:47713539:G:GA	donor_loss	0.9900
19:47713539:G:GG	donor_gain	0.9900
19:47713540:T:G	donor_loss	0.9900
19:47716553:CACA:C	acceptor_loss	0.9900
19:47716555:CAGG:C	acceptor_loss	0.9900
19:47716556:A:AG	acceptor_gain	0.9900
19:47716556:A:AT	acceptor_loss	0.9900
19:47716556:AG:A	acceptor_gain	0.9900
19:47716557:G:GA	acceptor_gain	0.9900
19:47716557:GG:G	acceptor_gain	0.9900
19:47716998:G:GT	donor_gain	0.9900
19:47717012:AACAG:A	donor_loss	0.9900
19:47717013:ACAGG:A	donor_loss	0.9900

AlphaMissense

3565 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:47726021:T:A	W238R	1.000
19:47726021:T:C	W238R	1.000
19:47741130:T:A	W444R	1.000
19:47741130:T:C	W444R	1.000
19:47741132:G:C	W444C	1.000
19:47741132:G:T	W444C	1.000
19:47741169:T:C	F457L	1.000
19:47741171:C:A	F457L	1.000
19:47741171:C:G	F457L	1.000
19:47741268:T:A	W490R	1.000
19:47741268:T:C	W490R	1.000
19:47741316:T:C	F506L	1.000
19:47741317:T:C	F506S	1.000
19:47741318:C:A	F506L	1.000
19:47741318:C:G	F506L	1.000
19:47741335:T:C	L512P	1.000
19:47716814:A:C	S68R	0.999
19:47716816:C:A	S68R	0.999
19:47716816:C:G	S68R	0.999
19:47716821:G:A	G70D	0.999
19:47716901:T:C	F97L	0.999
19:47716902:T:C	F97S	0.999
19:47716903:T:A	F97L	0.999
19:47716903:T:G	F97L	0.999
19:47716908:C:A	A99D	0.999
19:47716944:G:A	G111D	0.999
19:47716977:T:C	F122S	0.999
19:47718559:T:A	I152N	0.999
19:47718570:G:C	G156R	0.999
19:47718571:G:A	G156D	0.999

dbSNP variants (sampled 300 via entrez): RS1000144993 (19:47725122 G>A), RS1000205204 (19:47711684 T>G), RS1000233753 (19:47714665 C>A), RS1000242446 (19:47731027 G>A), RS1000294815 (19:47730499 C>G,T), RS1000341716 (19:47739736 C>T), RS1000380528 (19:47717277 G>A), RS1000497649 (19:47725320 C>T), RS1000581208 (19:47729503 G>A), RS1000643602 (19:47729288 T>C,G), RS1000687229 (19:47735383 G>A,C,T), RS1000690606 (19:47715901 G>C), RS1000751662 (19:47717077 C>A,G,T), RS1000842907 (19:47721331 T>G), RS1000872334 (19:47721513 G>A,T)

Disease associations

OMIM: gene MIM:605890 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation, affects cotreatment, increases expression, affects expression	6
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
entinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression, increases methylation	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	2
bisphenol F	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Cadmium	increases abundance, decreases expression	1
Caffeine	decreases expression	1
Calcium Chloride	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1

Clinical trials (associated diseases)

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