SMG5

Summary

SMG5 (SMG5 nonsense mediated mRNA decay factor, HGNC:24644) is a protein-coding gene on chromosome 1q22, encoding Nonsense-mediated mRNA decay factor SMG5 (Q9UPR3). Plays a role in nonsense-mediated mRNA decay. It is a common-essential gene (DepMap: required in 98.4% of cancer cell lines).

SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).

Source: NCBI Gene 23381 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 237 total
• Cancer dependency (DepMap): dependent in 98.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_015327

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24644
Approved symbol	SMG5
Name	SMG5 nonsense mediated mRNA decay factor
Location	1q22
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B
Ensembl gene	ENSG00000198952
Ensembl biotype	protein_coding
OMIM	610962
Entrez	23381

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 22 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000361813, ENST00000468993, ENST00000473643, ENST00000476954, ENST00000489907, ENST00000858600, ENST00000858601, ENST00000858602, ENST00000858603, ENST00000858604, ENST00000858605, ENST00000858606, ENST00000858607, ENST00000858608, ENST00000858609, ENST00000858610, ENST00000925518, ENST00000925519, ENST00000925520, ENST00000925521, ENST00000956492, ENST00000956493, ENST00000956494, ENST00000956495, ENST00000956496, ENST00000956497

RefSeq mRNA: 5 — MANE Select: NM_015327 NM_001323614, NM_001323615, NM_001323616, NM_001323617, NM_015327

CCDS: CCDS1137

Canonical transcript exons

ENST00000361813 — 22 exons

Exon	Start	End
ENSE00001054400	156261333	156261408
ENSE00001054402	156267470	156267678
ENSE00001054403	156251403	156251477
ENSE00001054404	156252414	156252504
ENSE00001054405	156268290	156268415
ENSE00001054406	156263395	156263570
ENSE00001054407	156273361	156273450
ENSE00001054409	156268115	156268183
ENSE00001054410	156272320	156272398
ENSE00001054413	156266541	156266678
ENSE00001054415	156252919	156253078
ENSE00001054416	156260451	156260626
ENSE00001054417	156265781	156266380
ENSE00001054418	156250858	156250996
ENSE00001075011	156277925	156278048
ENSE00001075015	156277085	156277241
ENSE00001075017	156274597	156274686
ENSE00001196892	156278936	156279034
ENSE00001446733	156249224	156250670
ENSE00001446734	156282607	156282825
ENSE00003436026	156259005	156259163
ENSE00003442982	156253449	156253508

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 96.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.5890 / max 347.1460, expressed in 1825 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15097	54.2128	1825
15099	3.5002	1173
15098	0.2801	137
15096	0.0960	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	96.19	gold quality
lower esophagus mucosa	UBERON:0035834	96.11	gold quality
metanephros cortex	UBERON:0010533	95.25	gold quality
gastrocnemius	UBERON:0001388	95.20	gold quality
adenohypophysis	UBERON:0002196	94.92	gold quality
right adrenal gland	UBERON:0001233	94.91	gold quality
granulocyte	CL:0000094	94.90	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.89	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.82	gold quality
right adrenal gland cortex	UBERON:0035827	94.77	gold quality
left adrenal gland cortex	UBERON:0035825	94.69	gold quality
left adrenal gland	UBERON:0001234	94.68	gold quality
skin of leg	UBERON:0001511	94.62	gold quality
muscle of leg	UBERON:0001383	94.50	gold quality
cerebellar hemisphere	UBERON:0002245	94.48	gold quality
mucosa of transverse colon	UBERON:0004991	94.45	gold quality
right frontal lobe	UBERON:0002810	94.44	gold quality
skin of abdomen	UBERON:0001416	94.42	gold quality
heart left ventricle	UBERON:0002084	94.40	gold quality
cerebellar cortex	UBERON:0002129	94.35	gold quality
pituitary gland	UBERON:0000007	94.26	gold quality
right atrium auricular region	UBERON:0006631	94.20	gold quality
adrenal cortex	UBERON:0001235	94.14	gold quality
cardiac ventricle	UBERON:0002082	94.14	gold quality
right lobe of liver	UBERON:0001114	94.08	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.05	gold quality
ventricular zone	UBERON:0003053	93.98	gold quality
lower esophagus	UBERON:0013473	93.96	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.95	gold quality
upper lobe of left lung	UBERON:0008952	93.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

80 targeting SMG5, 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-12118	100.00	65.88	1270
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-328-5P	99.08	64.65	1000

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• Data show that phosphorylated hUPF1, the human ortholog of UPF1/SMG-2, forms a complex with human orthologs of the Caenorhabditis elegans proteins SMG-5 and SMG-7. (PMID:14636577)
• HDAC8 regulation of hEST1B protein stability modulates total telomerase enzymatic activity (PMID:16809764)
• The study demonstrates that SMG5-SMG7 and SMG6 exhibit different and non-overlapping modes of UPF1 recognition, thus pointing at distinguished roles in integrating the complex nonsense-mediated mRNA decay interaction network. (PMID:25013172)
• Depletion of nonsense-mediated mRNA decay pathway components Upf1, Smg5, and Smg7 led to increased levels of viral proteins and and virus release. (PMID:25211080)
• This study highlights that miR-433 represses nonsense mediated mRNA decay. The miR-433 targets 3’-UTR of SMG5 and represses the expression of SMG5, whereas nonsense-mediated mRNA decay activity is decreased when SMG5 is decreased. (PMID:27473591)
• The authors found no evidence for the existence of a physical or functional interaction between SMG5 and PNRC2. (PMID:29348139)
• SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. (PMID:34172724)
• Pan-Cancer Analysis of the Prognostic and Immunological Role of SMG5: A Biomarker for Cancers. (PMID:37699361)
• Overexpression of TMEM79 combined with SMG5 is related to prognosis, tumor immune infiltration and drug sensitivity in hepatocellular carcinoma. (PMID:37936239)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	smg5	ENSDARG00000041481
mus_musculus	Smg5	ENSMUSG00000001415
rattus_norvegicus	Smg5	ENSRNOG00000019590
drosophila_melanogaster	Smg5	FBGN0019890

Paralogs (1): SMG7 (ENSG00000116698)

Protein

Protein identifiers

Nonsense-mediated mRNA decay factor SMG5 — Q9UPR3 (reviewed: Q9UPR3)

Alternative names: EST1-like protein B, LPTS-RP1, LPTS-interacting protein, SMG-5 homolog

All UniProt accessions (1): Q9UPR3

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity.

Subunit / interactions. Interacts with TERT, PPP2CA and SMG1. Part of a complex that contains SMG1, SMG5, SMG7, PPP2CA, a short isoform of UPF3A (isoform UPF3AS, but not isoform UPF3AL) and phosphorylated UPF1. Not detected in complexes that contain unphosphorylated UPF1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous.

RefSeq proteins (5): NP_001310543, NP_001310544, NP_001310545, NP_001310546, NP_056142* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002716	PIN_dom	Domain
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR018834	DNA/RNA-bd_Est1-type	Domain
IPR019458	Est1-like_N	Domain
IPR045153	Est1/Ebs1-like	Family

Pfam: PF10373, PF10374, PF13638

UniProt features (30 total): helix 7, strand 5, sequence conflict 4, modified residue 3, compositionally biased region 3, region of interest 2, initiator methionine 1, chain 1, sequence variant 1, mutagenesis site 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2HWY	X-RAY DIFFRACTION	2.75

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPR3-F1	73.72	0.45

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 (3): 2, 423, 2

Mutagenesis-validated functional residues (1):

Position	Phenotype
860	abolishes stimulation of rent1 dephosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-8953854	Metabolism of RNA
R-HSA-927802	Nonsense-Mediated Decay (NMD)

MSigDB gene sets: 199 (showing top): GOBP_RNA_TEMPLATED_DNA_BIOSYNTHETIC_PROCESS, PID_HDAC_CLASSI_PATHWAY, RNGTGGGC_UNKNOWN, GOBP_CHROMOSOME_ORGANIZATION, PID_TELOMERASE_PATHWAY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING, GOBP_TELOMERE_ORGANIZATION, CAGCTG_AP4_Q5, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, PATIL_LIVER_CANCER, GOBP_NUCLEAR_TRANSPORT, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT

GO Biological Process (5): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), mRNA export from nucleus (GO:0006406), regulation of telomere maintenance (GO:0032204), regulation of telomere maintenance via telomerase (GO:0032210), regulation of dephosphorylation (GO:0035303)

GO Molecular Function (6): ubiquitin protein ligase binding (GO:0031625), telomeric repeat DNA binding (GO:0042162), histone deacetylase binding (GO:0042826), protein phosphatase 2A binding (GO:0051721), telomerase RNA binding (GO:0070034), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), telomerase holoenzyme complex (GO:0005697), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic ribonucleoprotein granule (GO:0036464)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Nonsense-Mediated Decay (NMD)	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoplasm	2
nuclear-transcribed mRNA catabolic process	1
RNA export from nucleus	1
gene expression	1
mRNA transport	1
telomere maintenance	1
regulation of chromosome organization	1
regulation of DNA metabolic process	1
telomere maintenance via telomerase	1
regulation of telomere maintenance via telomere lengthening	1
regulation of DNA biosynthetic process	1
dephosphorylation	1
regulation of metabolic process	1
ubiquitin-like protein ligase binding	1
sequence-specific DNA binding	1
enzyme binding	1
protein phosphatase binding	1
RNA binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear protein-containing complex	1
catalytic complex	1
ribonucleoprotein complex	1
intracellular anatomical structure	1
ribonucleoprotein granule	1

Protein interactions and networks

STRING

1814 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMG5	UPF1	Q92900	999
SMG5	SMG7	Q92540	991
SMG5	UPF2	Q9HAU5	978
SMG5	SMG6	Q86US8	970
SMG5	SMG1	Q96Q15	962
SMG5	UPF3A	Q9H1J1	960
SMG5	PNRC2	Q9NPJ4	951
SMG5	UPF3B	Q9BZI7	934
SMG5	SMG8	Q8ND04	903
SMG5	SMG9	Q9H0W8	847
SMG5	SULT1E1	P49888	832
SMG5	HDAC8	Q9BY41	819
SMG5	STAU1	O95793	789
SMG5	XRN1	Q8IZH2	775
SMG5	DCP1A	Q9NPI6	744

IntAct

35 interactions, top by confidence:

A	B	Type	Score
TP53	CSNK2A2	psi-mi:“MI:0914”(association)	0.730
UPF3B	RNPS1	psi-mi:“MI:0914”(association)	0.640
SMG7	UPF1	psi-mi:“MI:0914”(association)	0.620
UPF1	SMG7	psi-mi:“MI:0914”(association)	0.620
MRPS18C	MRPS14	psi-mi:“MI:0914”(association)	0.530
SMG5	SMG7	psi-mi:“MI:0914”(association)	0.500
UPF1	SMG5	psi-mi:“MI:0915”(physical association)	0.500
SMG5	SMG7	psi-mi:“MI:0915”(physical association)	0.500
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
SMG5	H2BC13	psi-mi:“MI:0915”(physical association)	0.400
SMG5	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
SMG5	H2BC5	psi-mi:“MI:0915”(physical association)	0.400
SMG5	TERT	psi-mi:“MI:0915”(physical association)	0.400
TP53	MDM2	psi-mi:“MI:0914”(association)	0.350
C6orf141	KRBA1	psi-mi:“MI:0914”(association)	0.350
UPF1	PABPC1	psi-mi:“MI:0914”(association)	0.350
UPF3A	RNPS1	psi-mi:“MI:0914”(association)	0.350
SYT2	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
TP53	PPM1G	psi-mi:“MI:0914”(association)	0.350
CEP152	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CPEB1	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
RB1CC1	TRAPPC13	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (92): SMG5 (Affinity Capture-RNA), SMG5 (Affinity Capture-RNA), SMG5 (Affinity Capture-Western), SMG5 (Proximity Label-MS), SMG5 (Proximity Label-MS), SMG5 (Proximity Label-MS), SMG5 (Affinity Capture-MS), SMG5 (Affinity Capture-MS), SMG5 (Affinity Capture-MS), SMG5 (Affinity Capture-MS), SMG5 (Reconstituted Complex), SMG5 (Affinity Capture-MS), SMG5 (Proximity Label-MS), SMG5 (Proximity Label-MS), SMG5 (Proximity Label-MS)

ESM2 similar proteins: A2A690, A2AWP8, A2RRU4, F1LQY6, F1LTE0, F1LXF1, O88842, O94827, O95267, P11274, P49797, Q0P5I0, Q14161, Q14CM0, Q29RM4, Q3B7L5, Q3UHE1, Q5JSP0, Q5R5M3, Q5R5T1, Q5T6S3, Q5XIS9, Q66H91, Q66T02, Q68FF6, Q6PAJ1, Q6RFZ7, Q6ZN54, Q6ZPY2, Q6ZR37, Q76JQ2, Q7Z6G3, Q80YA9, Q8BZ03, Q8R1S4, Q8TBP0, Q8TCU6, Q8WXI2, Q91ZP9, Q96JH8

Diamond homologs: A9QM73, F1R7R1, Q6ZPY2, Q9UPR3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
STUB1	“down-regulates quantity by destabilization”	SMG5	polyubiquitination
HDAC8	“up-regulates quantity by stabilization”	SMG5	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 39 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
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	6	22.5×	5e-05
Oxidative Stress Induced Senescence	5	17.4×	1e-03
Ub-specific processing proteases	5	10.2×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	5	66.9×	4e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	183
Likely benign	10
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

3227 predictions. Top by Δscore:

Variant	Effect	Δscore
1:156250853:CCCA:C	donor_loss	1.0000
1:156250854:CCAC:C	donor_loss	1.0000
1:156250855:CA:C	donor_loss	1.0000
1:156250856:A:AG	donor_loss	1.0000
1:156250857:C:A	donor_loss	1.0000
1:156252409:CTCA:C	donor_loss	1.0000
1:156252412:A:AC	donor_gain	1.0000
1:156252412:A:C	donor_loss	1.0000
1:156252413:C:CA	donor_loss	1.0000
1:156252413:C:CC	donor_gain	1.0000
1:156252500:GATCA:G	acceptor_gain	1.0000
1:156252501:ATCA:A	acceptor_gain	1.0000
1:156252502:TCA:T	acceptor_gain	1.0000
1:156252503:CA:C	acceptor_gain	1.0000
1:156252503:CAC:C	acceptor_gain	1.0000
1:156252505:C:CC	acceptor_gain	1.0000
1:156252508:G:GC	acceptor_gain	1.0000
1:156252513:C:CT	acceptor_gain	1.0000
1:156252514:A:T	acceptor_gain	1.0000
1:156252517:G:C	acceptor_gain	1.0000
1:156252517:G:GC	acceptor_gain	1.0000
1:156252913:ACTT:A	donor_gain	1.0000
1:156252914:CTTA:C	donor_loss	1.0000
1:156252915:TTA:T	donor_loss	1.0000
1:156252915:TTAC:T	donor_gain	1.0000
1:156252916:TACC:T	donor_gain	1.0000
1:156252917:ACCT:A	donor_gain	1.0000
1:156252918:C:CA	donor_loss	1.0000
1:156252918:CCTGT:C	donor_gain	1.0000
1:156253444:CCTA:C	donor_loss	1.0000

AlphaMissense

6651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:156252441:A:G	L909P	1.000
1:156252479:C:A	K896N	1.000
1:156252479:C:G	K896N	1.000
1:156252492:A:G	L892P	1.000
1:156253008:A:T	V858D	1.000
1:156253011:A:G	L857P	1.000
1:156253015:A:C	Y856D	1.000
1:156253062:A:G	L840P	1.000
1:156253062:A:T	L840Q	1.000
1:156253077:A:G	L835P	1.000
1:156253453:A:G	L833P	1.000
1:156253453:A:T	L833H	1.000
1:156253459:A:G	L831P	1.000
1:156253465:G:T	A829D	1.000
1:156253467:C:A	M828I	1.000
1:156253467:C:G	M828I	1.000
1:156253467:C:T	M828I	1.000
1:156253468:A:G	M828T	1.000
1:156253476:C:A	M825I	1.000
1:156253476:C:G	M825I	1.000
1:156253476:C:T	M825I	1.000
1:156253477:A:G	M825T	1.000
1:156253480:A:G	L824P	1.000
1:156268394:A:C	F245L	1.000
1:156268394:A:T	F245L	1.000
1:156268396:A:G	F245L	1.000
1:156272377:C:T	G219D	1.000
1:156272378:C:G	G219R	1.000
1:156273447:C:G	R183P	1.000
1:156274602:T:A	D180V	1.000

dbSNP variants (sampled 300 via entrez): RS1000026223 (1:156261113 C>T), RS1000164096 (1:156255040 G>A), RS1000195361 (1:156254219 C>G,T), RS1000242419 (1:156291240 A>G), RS1000247671 (1:156254486 C>A,G,T), RS1000274171 (1:156261267 G>A,C,T), RS1000394508 (1:156267170 T>C), RS1000528571 (1:156285065 G>C), RS1000549210 (1:156278538 T>A), RS1000665367 (1:156291779 C>T), RS1000718076 (1:156271614 C>A,T), RS1000919072 (1:156271366 T>C), RS1001065838 (1:156271390 A>G), RS1001137568 (1:156253306 G>A,C), RS1001150904 (1:156259501 C>T)

Disease associations

OMIM: gene MIM:610962 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000582_7	Mean corpuscular hemoglobin concentration	3.000000e-09
GCST005145_1	Glycated hemoglobin levels	3.000000e-08
GCST005992_1	Mean corpuscular hemoglobin concentration	1.000000e-16
GCST006001_7	Hemoglobin A1c levels	1.000000e-18

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004541	HbA1c measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases abundance, decreases methylation, increases expression, affects cotreatment	3
sodium arsenite	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
ICG 001	increases expression	1
abrine	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	increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Oils, Volatile	increases abundance, affects cotreatment, affects expression	1
Selenium	affects cotreatment, decreases expression, increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Valproic Acid	increases methylation	1
Vitamin E	affects cotreatment, decreases expression, increases expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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