SH3GL3

Summary

SH3GL3 (SH3 domain containing GRB2 like 3, endophilin A3, HGNC:10832) is a protein-coding gene on chromosome 15q25.2, encoding Endophilin-A3 (Q99963). Implicated in endocytosis.

Enables identical protein binding activity. Predicted to be involved in central nervous system development and signal transduction. Predicted to be located in acrosomal vesicle and early endosome membrane. Predicted to be part of early endosome. Predicted to be active in several cellular components, including glutamatergic synapse; postsynaptic density, intracellular component; and postsynaptic endosome.

Source: NCBI Gene 6457 — RefSeq curated summary.

At a glance

• GWAS associations: 63
• Clinical variants (ClinVar): 44 total
• MANE Select transcript: NM_003027

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10832
Approved symbol	SH3GL3
Name	SH3 domain containing GRB2 like 3, endophilin A3
Location	15q25.2
Locus type	gene with protein product
Status	Approved
Aliases	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371
Ensembl gene	ENSG00000140600
Ensembl biotype	protein_coding
OMIM	603362
Entrez	6457

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000324537, ENST00000427482, ENST00000467735, ENST00000492099, ENST00000563901, ENST00000564054, ENST00000903482, ENST00000951042

RefSeq mRNA: 9 — MANE Select: NM_003027 NM_001301108, NM_001301109, NM_001324182, NM_001324183, NM_001324184, NM_001324185, NM_001324186, NM_001324187, NM_003027

CCDS: CCDS10325, CCDS73772

Canonical transcript exons

ENST00000427482 — 9 exons

Exon	Start	End
ENSE00000944112	83565134	83565206
ENSE00001266362	83568529	83568672
ENSE00001822826	83618082	83618743
ENSE00003486161	83447341	83447578
ENSE00003520217	83572565	83572698
ENSE00003553463	83576583	83576741
ENSE00003575803	83559253	83559321
ENSE00003592641	83588662	83588771
ENSE00003659823	83586983	83587086

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 99.94.

FANTOM5 (CAGE): breadth broad, TPM avg 8.4100 / max 506.2651, expressed in 619 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148119	6.4789	504
148118	1.7713	425
148120	0.0922	54
148117	0.0676	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.94	gold quality
middle frontal gyrus	UBERON:0002702	98.40	gold quality
male germ cell	CL:0000015	97.99	gold quality
corpus callosum	UBERON:0002336	97.80	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.75	gold quality
Brodmann (1909) area 10	UBERON:0013541	97.66	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.55	gold quality
spinal cord	UBERON:0002240	96.89	gold quality
Ammon’s horn	UBERON:0001954	96.80	gold quality
CA1 field of hippocampus	UBERON:0003881	96.68	gold quality
left testis	UBERON:0004533	96.55	gold quality
substantia nigra	UBERON:0002038	96.41	gold quality
right testis	UBERON:0004534	96.35	gold quality
postcentral gyrus	UBERON:0002581	96.19	gold quality
cranial nerve II	UBERON:0000941	96.16	gold quality
frontal pole	UBERON:0002795	96.09	gold quality
orbitofrontal cortex	UBERON:0004167	96.02	gold quality
midbrain	UBERON:0001891	95.82	gold quality
inferior olivary complex	UBERON:0002127	95.79	gold quality
cortical plate	UBERON:0005343	95.69	gold quality
amygdala	UBERON:0001876	95.51	gold quality
hypothalamus	UBERON:0001898	95.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.45	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.41	gold quality
prefrontal cortex	UBERON:0000451	95.28	gold quality
superior frontal gyrus	UBERON:0002661	95.16	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	94.96	gold quality
cerebral cortex	UBERON:0000956	94.93	gold quality
putamen	UBERON:0001874	94.93	gold quality
temporal lobe	UBERON:0001871	94.88	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	9.75
E-MTAB-6058	no	42.59
E-ENAD-17	no	12.19
E-ANND-3	no	4.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting SH3GL3, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5696	99.98	72.36	4487
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-579-3P	99.86	71.66	3628

Literature-anchored findings (GeneRIF, showing 9)

• These data implicate ataxin-2 to play a role in endocytic receptor cycling.[Endophilin A3] (PMID:18602463)
• importance of hapln1b and sh3gl3 in embryonic vascular development (PMID:19308258)
• SH3GL3 as a novel glioma invasion-associated candidate gene that likely contribute to the invasive phenotype of malignant gliomas. (PMID:21722156)
• Aberrant DNA methylation of SH3GL3 gene is associated with colorectal cancer. (PMID:22901147)
• Our findings indicate that SH3GL3 plays an important role in myeloma cell migration/invasion, stemness and chemo-resistance. The SH3GL3-mediated myeloma cell migration/invasion is mediated by FAK/PI3K signaling pathway. (PMID:27683032)
• Endophilin-A3 functionally associates with CD166-containing early endocytic carriers and physically interacts with the cargo. Study provides strong evidence that the construction of endocytic sites from which CD166 is taken up in an endophilin-A3-dependent manner is driven by extracellular galectin-8, revealing the existence of a previously uncharacterized clathrin-independent endocytic modality in cancer cells. (PMID:32193381)
• SH3GL3 functions as a potent tumor suppressor in lung cancer in a SH3 domain dependent manner. (PMID:33168185)
• SH3GL3 acts as a novel tumor suppressor in glioblastoma tumorigenesis by inhibiting STAT3 signaling. (PMID:33524871)
• LncRNA MIR210HG promotes the proliferation, migration, and invasion of lung cancer cells by inhibiting the transcription of SH3GL3. (PMID:37916731)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sh3gl3a	ENSDARG00000013360
mus_musculus	Sh3gl3	ENSMUSG00000030638
rattus_norvegicus	Sh3gl3	ENSRNOG00000019776
drosophila_melanogaster	EndoA	FBGN0038659
caenorhabditis_elegans	unc-57	WBGENE00006791

Paralogs (12): SORBS1 (ENSG00000095637), SH3GLB1 (ENSG00000097033), NCF4 (ENSG00000100365), SH3GL2 (ENSG00000107295), SH3D19 (ENSG00000109686), SORBS3 (ENSG00000120896), SH3GL1 (ENSG00000141985), SH3GLB2 (ENSG00000148341), SH3RF1 (ENSG00000154447), SORBS2 (ENSG00000154556), SH3RF2 (ENSG00000156463), SH3RF3 (ENSG00000172985)

Protein

Protein identifiers

Endophilin-A3 — Q99963 (reviewed: Q99963)

Alternative names: EEN-B2, Endophilin-3, SH3 domain protein 2C, SH3 domain-containing GRB2-like protein 3

All UniProt accessions (2): Q99963, H3BRH8

UniProt curated annotations — full annotation on UniProt →

Function. Implicated in endocytosis. May recruit other proteins to membranes with high curvature.

Subunit / interactions. Interacts with ARC. Interacts with DNM1, SGIP1 and SYNJ1. Interacts with the huntingtin exon 1 protein (HDEX1P) containing a glutamine repeat in the pathological range and promotes formation of insoluble polyglutamine-containing aggregates in vivo. Interacts with DYDC1. Interacts with FASLG. Interacts with ATXN2. Interacts with BIN2.

Subcellular location. Cytoplasm. Early endosome membrane.

Tissue specificity. Brain and testis.

Domain organisation. An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes.

Similarity. Belongs to the endophilin family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q99963-1	1, EEN-B2-L1	yes
Q99963-2	2, EEN-B2-L2
Q99963-3	3, EEN-B2-L3
Q99963-4	4, EEN-B2-L4

RefSeq proteins (9): NP_001288037, NP_001288038, NP_001311111, NP_001311112, NP_001311113, NP_001311114, NP_001311115, NP_001311116, NP_003018* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR004148	BAR_dom	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR032469	Endophilin-A3_BAR	Domain
IPR035824	Endophilin_A_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR050384	Endophilin_SH3RF	Family

Pfam: PF00018, PF03114

UniProt features (26 total): helix 9, strand 4, region of interest 4, splice variant 3, domain 2, chain 1, turn 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2Z0V	X-RAY DIFFRACTION	2.49
2EW3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99963-F1	88.90	0.72

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 (1): 265

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-182971	EGFR downregulation
R-HSA-6807004	Negative regulation of MET activity
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-8875360	InlB-mediated entry of Listeria monocytogenes into host cell
R-HSA-9031628	NGF-stimulated transcription
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-166520	Signaling by NTRKs
R-HSA-177929	Signaling by EGFR
R-HSA-187037	Signaling by NTRK1 (TRKA)
R-HSA-198725	Nuclear Events (kinase and transcription factor activation)
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-6806834	Signaling by MET
R-HSA-8876384	Listeria monocytogenes entry into host cells
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
R-HSA-9824439	Bacterial Infection Pathways

MSigDB gene sets: 230 (showing top): RNGTGGGC_UNKNOWN, FREAC2_01, GOCC_SECRETORY_GRANULE, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, FOXO4_01, REACTOME_MEMBRANE_TRAFFICKING, FOXO1_01, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, MODULE_66, PAX8_B, BROWNE_HCMV_INFECTION_24HR_UP

GO Biological Process (6): endocytosis (GO:0006897), signal transduction (GO:0007165), central nervous system development (GO:0007417), positive regulation of neuron differentiation (GO:0045666), negative regulation of clathrin-dependent endocytosis (GO:1900186), regulation of clathrin-dependent endocytosis (GO:2000369)

GO Molecular Function (3): lipid binding (GO:0008289), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (10): acrosomal vesicle (GO:0001669), cytoplasm (GO:0005737), early endosome membrane (GO:0031901), presynapse (GO:0098793), postsynaptic endosome (GO:0098845), glutamatergic synapse (GO:0098978), postsynaptic density, intracellular component (GO:0099092), endosome (GO:0005768), early endosome (GO:0005769), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Signaling by Receptor Tyrosine Kinases	3
Signaling by EGFR	1
Signaling by MET	1
Clathrin-mediated endocytosis	1
Membrane Trafficking	1
Listeria monocytogenes entry into host cells	1
Nuclear Events (kinase and transcription factor activation)	1
Signaling by NTRKs	1
Signaling by NTRK1 (TRKA)	1
Vesicle-mediated transport	1
Disease	1
Bacterial Infection Pathways	1
Signal Transduction	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
clathrin-dependent endocytosis	2
binding	2
synapse	2
endosome	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
nervous system development	1
system development	1
neuron differentiation	1
positive regulation of cell differentiation	1
regulation of neuron differentiation	1
negative regulation of receptor-mediated endocytosis	1
regulation of clathrin-dependent endocytosis	1
regulation of receptor-mediated endocytosis	1
protein binding	1
secretory granule	1
intracellular anatomical structure	1
early endosome	1
endosome membrane	1
postsynapse	1
postsynaptic density	1
postsynaptic specialization, intracellular component	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

1182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SH3GL3	HTT	P42858	945
SH3GL3	SYNJ1	O43426	929
SH3GL3	ARC	Q7LC44	885
SH3GL3	SYNJ2	O15056	831
SH3GL3	LRRK2	Q5S007	822
SH3GL3	PDCD6IP	Q8WUM4	729
SH3GL3	ATXN2	Q99700	707
SH3GL3	DNM2	P50570	704
SH3GL3	EPS15	P42566	698
SH3GL3	DNM1	Q05193	661
SH3GL3	ATG3	Q9NT62	659
SH3GL3	AMPH	P49418	624
SH3GL3	SGIP1	Q9BQI5	596
SH3GL3	DYDC1	Q8WWB3	572
SH3GL3	BIN1	O00499	568
SH3GL3	MET	P08581	568

IntAct

104 interactions, top by confidence:

A	B	Type	Score
SH3GL3	SH3GL1	psi-mi:“MI:0915”(physical association)	0.830
SH3GL1	SH3GL3	psi-mi:“MI:0915”(physical association)	0.830
SH3GL2	SH3GL1	psi-mi:“MI:0914”(association)	0.800
ATXN2	SH3GL3	psi-mi:“MI:0915”(physical association)	0.760
SH3GL3	ATXN2	psi-mi:“MI:0915”(physical association)	0.760
HTT	SH3GL3	psi-mi:“MI:0915”(physical association)	0.740
SH3GL3	HTT	psi-mi:“MI:0915”(physical association)	0.740
SH3GL3	HTT	psi-mi:“MI:0407”(direct interaction)	0.740
HTT	SH3GL3	psi-mi:“MI:0407”(direct interaction)	0.740
SH3GL2	SH3GL3	psi-mi:“MI:0915”(physical association)	0.720
SH3GL3	SH3GL2	psi-mi:“MI:0915”(physical association)	0.720
SH3GL3	SH3KBP1	psi-mi:“MI:0915”(physical association)	0.690

BioGRID (175): SH3GL3 (Two-hybrid), SH3GL3 (Affinity Capture-MS), SH3GL1 (Affinity Capture-MS), SH3GL3 (Affinity Capture-MS), SH3GL3 (PCA), SH3KBP1 (Two-hybrid), SH3GL3 (Affinity Capture-MS), SH3GL3 (Affinity Capture-MS), SH3GL1 (Affinity Capture-MS), SH3GL3 (Affinity Capture-MS), FBXO32 (Affinity Capture-Western), FBXO32 (Reconstituted Complex), FBXO32 (Co-localization), DNAJC5 (FRET), SH3GL3 (Two-hybrid)

ESM2 similar proteins: A1XBS5, B0S6J3, D4A208, O35180, O35964, O43295, O75044, P0DJJ0, P0DMP2, P25343, Q08DK5, Q15057, Q1LU86, Q1RMK1, Q2VR06, Q32LM0, Q3SZG6, Q3V2J0, Q5AFE4, Q5FVC7, Q5PPJ9, Q5PPZ5, Q5R8P5, Q5ZIR1, Q5ZJ81, Q5ZK62, Q62419, Q62421, Q68FW8, Q6AYE2, Q6GN09, Q6IVG4, Q6ZQK5, Q6ZTR7, Q7Z6B7, Q812A2, Q8AXU9, Q8BP22, Q8I190, Q8I1C0

Diamond homologs: A1CEK6, A1DFN5, A1DFP5, A2QW93, A2QWA2, A3LXQ8, A4FU49, A4RF61, A6QLK6, B0BNA1, F4KAU9, O08641, O14964, O35179, O35180, O35413, O35964, O43125, O74749, O80910, O94875, P07751, P0CR78, P0CR79, P10569, P19878, P29355, P38753, P62993, P62994, P87379, Q06449, Q07883, Q08012, Q0CJU8, Q0CJV3, Q0U4Z8, Q0U6X7, Q0V8S0, Q15080

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SH3GL3	up-regulates	Endocytosis
DYDC1	“up-regulates activity”	SH3GL3	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 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
RAF/MAP kinase cascade	5	7.8×	1e-02
RAC1 GTPase cycle	5	7.8×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2875 predictions. Top by Δscore:

Variant	Effect	Δscore
15:83447574:GCCAG:G	donor_gain	1.0000
15:83447578:GGT:G	donor_loss	1.0000
15:83447579:G:C	donor_loss	1.0000
15:83447580:T:G	donor_loss	1.0000
15:83497146:A:G	donor_gain	1.0000
15:83515450:G:GT	donor_gain	1.0000
15:83515450:G:T	donor_gain	1.0000
15:83515475:GATT:G	donor_gain	1.0000
15:83565132:A:G	acceptor_gain	1.0000
15:83566190:G:GT	donor_gain	1.0000
15:83576581:A:AG	acceptor_gain	1.0000
15:83576582:G:GG	acceptor_gain	1.0000
15:83576582:GC:G	acceptor_gain	1.0000
15:83576738:TGAT:T	donor_gain	1.0000
15:83576739:GAT:G	donor_gain	1.0000
15:83576739:GATG:G	donor_gain	1.0000
15:83576742:G:GG	donor_gain	1.0000
15:83588660:A:AG	acceptor_gain	1.0000
15:83588661:G:GG	acceptor_gain	1.0000
15:83588661:GA:G	acceptor_gain	1.0000
15:83515483:T:TA	donor_gain	0.9900
15:83515484:A:AA	donor_gain	0.9900
15:83559317:AAAGG:A	donor_loss	0.9900
15:83559320:GG:G	donor_gain	0.9900
15:83559320:GGGT:G	donor_loss	0.9900
15:83559321:GG:G	donor_gain	0.9900
15:83559322:GT:G	donor_loss	0.9900
15:83559323:T:G	donor_loss	0.9900
15:83559324:AAGA:A	donor_loss	0.9900
15:83565131:A:AG	acceptor_gain	0.9900

AlphaMissense

2287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:83618207:T:A	W322R	1.000
15:83618207:T:C	W322R	1.000
15:83576611:G:C	R165P	0.999
15:83618129:T:C	F296L	0.999
15:83618131:T:A	F296L	0.999
15:83618131:T:G	F296L	0.999
15:83618209:G:C	W322C	0.999
15:83618209:G:T	W322C	0.999
15:83618216:G:A	G325R	0.999
15:83618216:G:C	G325R	0.999
15:83568538:C:A	A66D	0.998
15:83572586:G:A	G118D	0.998
15:83576599:T:C	L161P	0.998
15:83576608:G:C	R164P	0.998
15:83576610:C:A	R165S	0.998
15:83576614:T:C	L166P	0.998
15:83618113:T:G	C290W	0.998
15:83618154:T:C	L304S	0.998
15:83618160:T:C	F306S	0.998
15:83618184:T:C	L314S	0.998
15:83618217:G:A	G325E	0.998
15:83618238:G:A	G332E	0.998
15:83618247:C:A	P335H	0.998
15:83447569:A:C	K12N	0.997
15:83447569:A:T	K12N	0.997
15:83447571:C:A	A13D	0.997
15:83565192:T:C	L58P	0.997
15:83572606:G:C	A125P	0.997
15:83576590:T:C	L158P	0.997
15:83576607:C:A	R164S	0.997

dbSNP variants (sampled 300 via entrez): RS1000012698 (15:83607568 G>A,C,T), RS1000019669 (15:83547244 G>A), RS1000022338 (15:83591077 G>A), RS1000079899 (15:83557925 T>C), RS1000099402 (15:83482118 A>G,T), RS1000117703 (15:83621110 CCACT>C), RS1000139968 (15:83493638 C>T), RS1000142470 (15:83476953 C>A,G,T), RS1000143423 (15:83556957 G>C), RS1000165387 (15:83624496 A>T), RS1000195599 (15:83529876 C>G), RS1000224116 (15:83537356 A>G), RS1000258073 (15:83506871 T>A), RS1000278127 (15:83568103 C>T), RS1000290444 (15:83520496 T>A)

Disease associations

OMIM: gene MIM:603362 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

63 associations (top):

Study	Trait	p-value
GCST000175_10	Height	9.000000e-07
GCST000176_14	Height	6.000000e-08
GCST000644_4	Height	5.000000e-07
GCST002647_112	Height	1.000000e-47
GCST003141_7	Proteinuria and chronic kidney disease	7.000000e-06
GCST004185_20	Lung function (FEV1/FVC)	4.000000e-12
GCST007293_115	Body fat distribution (arm fat ratio)	3.000000e-20
GCST007293_12	Body fat distribution (arm fat ratio)	2.000000e-17
GCST007293_40	Body fat distribution (arm fat ratio)	2.000000e-31
GCST007294_119	Body fat distribution (trunk fat ratio)	4.000000e-44
GCST007294_93	Body fat distribution (trunk fat ratio)	3.000000e-71
GCST007295_153	Body fat distribution (leg fat ratio)	4.000000e-52
GCST007295_75	Body fat distribution (leg fat ratio)	7.000000e-24
GCST007431_125	Lung function (FEV1/FVC)	2.000000e-34
GCST007432_158	FEV1	2.000000e-20
GCST007649_4	Estimated glomerular filtration rate after 5 years in renal transplantation (recipient effect)	4.000000e-06
GCST008156_118	Hip circumference adjusted for BMI	3.000000e-06
GCST008163_441	Height	4.000000e-06
GCST008163_569	Height	2.000000e-06
GCST008282_8	Spine bone size	6.000000e-07
GCST008892_16	Working memory	1.000000e-06
GCST009823_6	Gynecologic disease (multivariate analysis)	3.000000e-08
GCST011703_21	Smoking initiation	6.000000e-11
GCST012226_374	Waist circumference adjusted for body mass index	5.000000e-09
GCST012226_375	Waist circumference adjusted for body mass index	5.000000e-08
GCST012226_376	Waist circumference adjusted for body mass index	1.000000e-11
GCST012226_377	Waist circumference adjusted for body mass index	1.000000e-08
GCST012226_543	Waist circumference adjusted for body mass index	2.000000e-08
GCST012226_544	Waist circumference adjusted for body mass index	4.000000e-09
GCST012226_545	Waist circumference adjusted for body mass index	8.000000e-23

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0004341	body fat distribution
EFO:0004314	forced expiratory volume
EFO:0005199	renal transplant outcome measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004508	spine bone size
EFO:0004335	short-term memory
EFO:0005670	smoking initiation
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
aristolochic acid I	decreases expression	1
bisphenol A	decreases methylation	1
sodium arsenate	decreases expression, increases abundance	1
trichostatin A	increases expression	1
arsenite	affects binding, increases reaction	1
butyraldehyde	increases expression	1
entinostat	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
ICG 001	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression	1
Calcitriol	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	increases expression	1
Lead	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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