SNRPG

Summary

SNRPG (small nuclear ribonucleoprotein polypeptide G, HGNC:11163) is a protein-coding gene on chromosome 2p13.3, encoding Small nuclear ribonucleoprotein G (P62308). Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

The protein encoded by this gene is a component of the U1, U2, U4, and U5 small nuclear ribonucleoprotein complexes, precursors of the spliceosome. The encoded protein may also be a part of the U7 small nuclear ribonucleoprotein complex, which participates in the processing of the 3’ end of histone transcripts. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6637 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 11 total
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_003096

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11163
Approved symbol	SNRPG
Name	small nuclear ribonucleoprotein polypeptide G
Location	2p13.3
Locus type	gene with protein product
Status	Approved
Aliases	Sm-G
Ensembl gene	ENSG00000143977
Ensembl biotype	protein_coding
OMIM	603542
Entrez	6637

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000272348, ENST00000413456, ENST00000429728, ENST00000438261, ENST00000449935, ENST00000454893, ENST00000480370, ENST00000482975, ENST00000488400, ENST00000905335, ENST00000924326

RefSeq mRNA: 7 — MANE Select: NM_003096 NM_001317165, NM_001317166, NM_001317167, NM_001317168, NM_001317169, NM_001317171, NM_003096

CCDS: CCDS1903, CCDS82461, CCDS82462, CCDS82463

Canonical transcript exons

ENST00000272348 — 4 exons

Exon	Start	End
ENSE00001278063	70281362	70281684
ENSE00001857869	70293618	70293740
ENSE00003676304	70288068	70288192
ENSE00003685760	70289350	70289372

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 98.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.9278 / max 1772.7837, expressed in 1823 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29026	62.5798	1823
29025	13.6463	1783
29024	0.7017	416

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
embryo	UBERON:0000922	98.93	gold quality
ganglionic eminence	UBERON:0004023	98.93	gold quality
ventricular zone	UBERON:0003053	98.88	gold quality
endometrium	UBERON:0001295	98.36	gold quality
placenta	UBERON:0001987	98.28	gold quality
mucosa of transverse colon	UBERON:0004991	98.13	gold quality
islet of Langerhans	UBERON:0000006	98.09	gold quality
right adrenal gland	UBERON:0001233	98.00	gold quality
left adrenal gland	UBERON:0001234	97.96	gold quality
left adrenal gland cortex	UBERON:0035825	97.90	gold quality
right adrenal gland cortex	UBERON:0035827	97.87	gold quality
vermiform appendix	UBERON:0001154	97.85	gold quality
cortex of kidney	UBERON:0001225	97.85	gold quality
adrenal gland	UBERON:0002369	97.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.66	gold quality
calcaneal tendon	UBERON:0003701	97.65	gold quality
esophagus mucosa	UBERON:0002469	97.64	gold quality
adult mammalian kidney	UBERON:0000082	97.62	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.62	gold quality
lymph node	UBERON:0000029	97.61	gold quality
monocyte	CL:0000576	97.60	gold quality
adenohypophysis	UBERON:0002196	97.60	gold quality
leukocyte	CL:0000738	97.59	gold quality
adrenal tissue	UBERON:0018303	97.59	gold quality
rectum	UBERON:0001052	97.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.57	gold quality
tonsil	UBERON:0002372	97.54	gold quality
colonic epithelium	UBERON:0000397	97.50	gold quality
kidney	UBERON:0002113	97.34	gold quality
heart left ventricle	UBERON:0002084	97.32	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-89232	yes	9264.23
E-CURD-122	yes	23.07
E-GEOD-125970	yes	22.82
E-CURD-46	yes	21.68
E-HCAD-1	yes	21.03
E-MTAB-9388	no	2318.87
E-MTAB-6701	no	921.71
E-MTAB-8060	no	882.23
E-ENAD-20	no	502.00
E-HCAD-8	no	48.08
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting SNRPG, 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-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-5583-3P	99.06	65.68	1018
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-192-5P	94.82	66.14	417
HSA-MIR-215-5P	94.82	66.07	422

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Downregulation of SNRPG induces cell cycle arrest and sensitizes human glioblastoma cells to temozolomide by targeting Myc through a p53-dependent signaling pathway. (PMID:32296580)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	snrpg	ENSDARG00000099667
rattus_norvegicus	LOC120100604	ENSRNOG00000065447
drosophila_melanogaster	SNRPG	FBGN0261791

Paralogs (1): LSM7 (ENSG00000130332)

Protein

Protein identifiers

Small nuclear ribonucleoprotein G — P62308 (reviewed: P62308)

Alternative names: Sm protein G

All UniProt accessions (4): P62308, C9JVQ0, F5H013, Q49AN9

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. As part of the U7 snRNP it is involved in histone 3’-end processing.

Subunit / interactions. Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Most spliceosomal snRNPs contain a common set of Sm proteins, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. Component of the U1 snRNP. The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8. Component of the U7 snRNP complex, or U7 Sm protein core complex, that is composed of the U7 snRNA and at least LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF and SNRPG; the complex does not contain SNRPD1 and SNRPD2. Component of the minor spliceosome, which splices U12-type introns. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP. Interacts with GEMIN2 (via N-terminus); the interaction is direct. Interacts with SNRPE; the interaction is direct.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Similarity. Belongs to the snRNP Sm proteins family.

RefSeq proteins (7): NP_001304094, NP_001304095, NP_001304096, NP_001304097, NP_001304098, NP_001304100, NP_003087* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001163	Sm_dom_euk/arc	Domain
IPR010920	LSM_dom_sf	Homologous_superfamily
IPR034098	Sm_G	Family
IPR044641	Lsm7/SmG-like	Family
IPR047575	Sm	Domain

Pfam: PF01423

UniProt features (11 total): strand 6, turn 2, chain 1, domain 1, helix 1

Structure

Experimental structures (PDB)

84 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
4F7U	X-RAY DIFFRACTION	1.9
5XJL	X-RAY DIFFRACTION	2.5
7EVO	ELECTRON MICROSCOPY	2.5
5XJU	X-RAY DIFFRACTION	2.58
8H6L	ELECTRON MICROSCOPY	2.6
8H6K	ELECTRON MICROSCOPY	2.7
8HK1	ELECTRON MICROSCOPY	2.7
8C6J	ELECTRON MICROSCOPY	2.8
9NH5	ELECTRON MICROSCOPY	2.82
9NH6	ELECTRON MICROSCOPY	2.82
6ID1	ELECTRON MICROSCOPY	2.86
7DVQ	ELECTRON MICROSCOPY	2.89
6ID0	ELECTRON MICROSCOPY	2.9
5XJT	X-RAY DIFFRACTION	2.92
6QW6	ELECTRON MICROSCOPY	2.92
6ICZ	ELECTRON MICROSCOPY	3
7VPX	ELECTRON MICROSCOPY	3
8I0R	ELECTRON MICROSCOPY	3
8I0T	ELECTRON MICROSCOPY	3
8I0V	ELECTRON MICROSCOPY	3
9GCL	ELECTRON MICROSCOPY	3
4V98	X-RAY DIFFRACTION	3.1
7QTT	ELECTRON MICROSCOPY	3.1
8Q91	ELECTRON MICROSCOPY	3.1
5XJR	X-RAY DIFFRACTION	3.12
9N96	ELECTRON MICROSCOPY	3.18
6V4X	ELECTRON MICROSCOPY	3.2
8H6E	ELECTRON MICROSCOPY	3.2
8Q7Q	ELECTRON MICROSCOPY	3.2
8RC0	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62308-F1	93.35	0.84

Function

Pathways and Gene Ontology

Reactome pathways

23 pathways

ID	Pathway
R-HSA-111367	SLBP independent Processing of Histone Pre-mRNAs
R-HSA-191859	snRNP Assembly
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72165	mRNA Splicing - Minor Pathway
R-HSA-73856	RNA Polymerase II Transcription Termination
R-HSA-77588	SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
R-HSA-9754678	SARS-CoV-2 modulates host translation machinery
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-9943411	CHD1 and CHD2 subfamily
R-HSA-1643685	Disease
R-HSA-194441	Metabolism of non-coding RNA
R-HSA-5663205	Infectious disease
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-75067	Processing of Capped Intronless Pre-mRNA
R-HSA-8953854	Metabolism of RNA
R-HSA-9679506	SARS-CoV Infections
R-HSA-9694516	SARS-CoV-2 Infection
R-HSA-9705683	SARS-CoV-2-host interactions
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 250 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, MODULE_151, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_RAD21, GNF2_MCM5, GOBP_RNA_METHYLATION, GNF2_RRM1, PUJANA_CHEK2_PCC_NETWORK, MODULE_388, MARTINEZ_RB1_TARGETS_UP, MORF_SKP1A, FONTAINE_PAPILLARY_THYROID_CARCINOMA_UP, ONKEN_UVEAL_MELANOMA_UP, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY

GO Biological Process (7): spliceosomal complex assembly (GO:0000245), spliceosomal snRNP assembly (GO:0000387), mRNA splicing, via spliceosome (GO:0000398), RNA splicing (GO:0008380), 7-methylguanosine cap hypermethylation (GO:0036261), U2-type prespliceosome assembly (GO:1903241), mRNA processing (GO:0006397)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (24): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U5 snRNP (GO:0005682), U7 snRNP (GO:0005683), U2-type spliceosomal complex (GO:0005684), U1 snRNP (GO:0005685), U2 snRNP (GO:0005686), U4 snRNP (GO:0005687), U12-type spliceosomal complex (GO:0005689), cytosol (GO:0005829), small nuclear ribonucleoprotein complex (GO:0030532), methylosome (GO:0034709), SMN-Sm protein complex (GO:0034719), P granule (GO:0043186), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type prespliceosome (GO:0071004), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 2 spliceosome (GO:0071007), precatalytic spliceosome (GO:0071011), catalytic step 2 spliceosome (GO:0071013), spliceosomal tri-snRNP complex (GO:0097526), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Metabolism of RNA	3
Processing of Capped Intronless Pre-mRNA	2
mRNA Splicing	2
Metabolism of non-coding RNA	1
RNA Polymerase II Transcription	1
SARS-CoV-2-host interactions	1
mRNA 3’-end processing	1
Dengue Virus Infection	1
CHD chromatin remodelers	1
Disease	1
Processing of Capped Intron-Containing Pre-mRNA	1
Gene expression (Transcription)	1
Viral Infection Pathways	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
spliceosomal snRNP complex	4
spliceosomal complex	3
cytoplasm	3
U2-type spliceosomal complex	3
U2 snRNP	3
mRNA splicing, via spliceosome	2
protein-RNA complex assembly	2
RNA processing	2
cellular anatomical structure	2
nuclear protein-containing complex	2
ribonucleoprotein complex	2
Sm-like protein family complex	2
U1 snRNP	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
RNA methylation	1
RNA capping	1
spliceosomal complex assembly	1
mRNA metabolic process	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
small nuclear ribonucleoprotein complex	1
methyltransferase complex	1
SMN complex	1
cytoplasmic ribonucleoprotein granule	1
germ plasm	1
U5 snRNP	1
U4/U6 snRNP	1
spliceosomal tri-snRNP complex	1
prespliceosome	1
U4/U6 x U5 tri-snRNP complex	1
precatalytic spliceosome	1
U6 snRNP	1
catalytic step 2 spliceosome	1

Protein interactions and networks

STRING

3083 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNRPG	SNRPF	P62306	995
SNRPG	SNRPE	P08578	993
SNRPG	SNRPD2	P43330	981
SNRPG	SNRPB	P14678	955
SNRPG	SNRPC	P09234	752
SNRPG	SNRNP70	P08621	730
SNRPG	SNRPB2	P08579	702
SNRPG	SNRPN	P14648	683
SNRPG	LSM6	P62312	671
SNRPG	LSM2	Q9Y333	607
SNRPG	SNRPD3	P43331	574
SNRPG	LSM11	P83369	561
SNRPG	LSM4	Q9Y4Z0	560
SNRPG	SNRPA	P09012	531
SNRPG	LSM3	P62310	515

IntAct

142 interactions, top by confidence:

A	B	Type	Score
SMN1	GEMIN2	psi-mi:“MI:0914”(association)	0.960
SNRPE	SNRPF	psi-mi:“MI:0915”(physical association)	0.940
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
SNRPG	SNRPE	psi-mi:“MI:0915”(physical association)	0.870
SNRPE	SNRPG	psi-mi:“MI:0915”(physical association)	0.870
SNRPG	DDIT4L	psi-mi:“MI:0915”(physical association)	0.860
DDIT4L	SNRPG	psi-mi:“MI:0915”(physical association)	0.860
SNRPG	CLNS1A	psi-mi:“MI:0915”(physical association)	0.840
CLNS1A	SNRPG	psi-mi:“MI:0915”(physical association)	0.840
MED20	MED19	psi-mi:“MI:0914”(association)	0.840
SNRPB	SNRNP70	psi-mi:“MI:0915”(physical association)	0.830
CLNS1A	PRMT5	psi-mi:“MI:0914”(association)	0.830
SMN1	SNRPG	psi-mi:“MI:0915”(physical association)	0.790
SNRPG	SMN1	psi-mi:“MI:0407”(direct interaction)	0.790
CLNS1A	SNRPE	psi-mi:“MI:0914”(association)	0.770
CLNS1A	SNRPE	psi-mi:“MI:0915”(physical association)	0.770

BioGRID (352): SNRPG (Two-hybrid), SNRPG (Two-hybrid), DDIT4L (Two-hybrid), SNRPG (Affinity Capture-MS), DDIT4L (Two-hybrid), SNRPG (Co-fractionation), SNRPG (Co-fractionation), SNRPG (Affinity Capture-MS), SNRPG (Affinity Capture-MS), SNRPG (Affinity Capture-MS), SNRPG (Affinity Capture-MS), SNRPG (Affinity Capture-MS), SNRPG (Affinity Capture-MS), SNRPG (Affinity Capture-MS), SNRPN (Affinity Capture-MS)

ESM2 similar proteins: A0A324, A1XQR9, A4FUI2, A5JSS2, A6MZM2, G1SHQ2, O09167, O14602, O35900, O60739, P20280, P25800, P41567, P46778, P47813, P48024, P49666, P51971, P61220, P62303, P62304, P62305, P62308, P62309, Q09028, Q0D5W6, Q0P5B3, Q2KIA3, Q3B8H4, Q3ZBL0, Q4R4X9, Q503U0, Q5E938, Q5RA42, Q5RBW7, Q5RFF4, Q60872, Q60972, Q6GVM3, Q6QN05

Diamond homologs: A1XQR9, A4FUI2, A8MWD9, A8XDT0, O26745, O29386, O74966, O82221, P24715, P40204, P47017, P53905, P62303, P62304, P62305, P62308, P62309, P62312, P62313, Q0UWI9, Q0W8R9, Q12U30, Q3ZBL0, Q465S1, Q4PG71, Q54HF6, Q54RX0, Q54W83, Q6BR90, Q8PZZ9, Q8TL47, Q8VYI0, Q945P8, Q9CQQ8, Q9N4G9, Q9SI54, Q9UK45, Q9USZ3, Q9VLV5, Q9VXE0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SNRPG	“form complex”	“U4/U6.U5 snRNP complex”	binding
SNRPG	“form complex”	“U2 snRNP complex”	binding
SNRPG	“form complex”	“U1 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 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
Metabolism of non-coding RNA	6	52.9×	4e-08
mRNA Splicing	19	29.0×	5e-21
snRNP Assembly	9	26.4×	2e-09
SARS-CoV-2 modulates host translation machinery	8	24.9×	4e-08
Processing of Capped Intron-Containing Pre-mRNA	19	21.7×	1e-18
mRNA Splicing - Major Pathway	26	19.7×	8e-25
mRNA Splicing - Minor Pathway	6	18.7×	2e-05
RNA Polymerase II Transcription Termination	6	18.3×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal snRNP assembly	12	76.6×	4e-18
U2-type prespliceosome assembly	9	61.7×	2e-12
spliceosomal complex assembly	6	39.7×	8e-07
mRNA splicing, via spliceosome	27	27.2×	4e-29
RNA polymerase II preinitiation complex assembly	5	14.9×	1e-03
RNA splicing	12	11.6×	6e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

436 predictions. Top by Δscore:

Variant	Effect	Δscore
2:70288062:ACTT:A	donor_loss	1.0000
2:70288063:CTT:C	donor_loss	1.0000
2:70288064:TTA:T	donor_loss	1.0000
2:70288066:A:AC	donor_gain	1.0000
2:70288066:AC:A	donor_gain	1.0000
2:70288066:ACCAC:A	donor_gain	1.0000
2:70288067:C:CC	donor_gain	1.0000
2:70288067:CC:C	donor_gain	1.0000
2:70288067:CCA:C	donor_gain	1.0000
2:70288067:CCACC:C	donor_gain	1.0000
2:70288188:TTTCA:T	acceptor_gain	1.0000
2:70288189:TTCA:T	acceptor_gain	1.0000
2:70288190:TCA:T	acceptor_gain	1.0000
2:70288191:CA:C	acceptor_gain	1.0000
2:70288191:CAC:C	acceptor_gain	1.0000
2:70288192:AC:A	acceptor_loss	1.0000
2:70288193:C:CC	acceptor_gain	1.0000
2:70288193:CT:C	acceptor_loss	1.0000
2:70288195:A:AC	acceptor_gain	1.0000
2:70288195:A:C	acceptor_gain	1.0000
2:70288196:T:C	acceptor_gain	1.0000
2:70288196:T:TC	acceptor_gain	1.0000
2:70289348:A:AC	donor_gain	1.0000
2:70289349:C:CC	donor_gain	1.0000
2:70293612:A:AC	donor_gain	1.0000
2:70293613:C:CC	donor_gain	1.0000
2:70293613:CTTA:C	donor_gain	1.0000
2:70293614:TTA:T	donor_loss	1.0000
2:70293616:A:AC	donor_gain	1.0000
2:70293616:ACTTT:A	donor_loss	1.0000

AlphaMissense

503 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:70281674:C:A	G64V	1.000
2:70281674:C:T	G64E	1.000
2:70281675:C:G	G64R	1.000
2:70281675:C:T	G64R	1.000
2:70281680:A:T	I62K	1.000
2:70288075:C:A	G58V	1.000
2:70288129:A:G	L40P	1.000
2:70288131:G:C	N39K	1.000
2:70288131:G:T	N39K	1.000
2:70288137:A:C	F37L	1.000
2:70288137:A:T	F37L	1.000
2:70288139:A:G	F37L	1.000
2:70288144:T:A	D35V	1.000
2:70288144:T:C	D35G	1.000
2:70288146:A:C	F34L	1.000
2:70288146:A:T	F34L	1.000
2:70288148:A:G	F34L	1.000
2:70288150:C:A	G33V	1.000
2:70288150:C:T	G33E	1.000
2:70288151:C:G	G33R	1.000
2:70288151:C:T	G33R	1.000
2:70288162:C:A	G29V	1.000
2:70288162:C:T	G29E	1.000
2:70288163:C:G	G29R	1.000
2:70288163:C:T	G29R	1.000
2:70281667:A:C	S66R	0.999
2:70281667:A:T	S66R	0.999
2:70281669:T:G	S66R	0.999
2:70281674:C:G	G64A	0.999
2:70281677:C:A	R63L	0.999

dbSNP variants (sampled 300 via entrez): RS1000167915 (2:70285120 G>A), RS1000579362 (2:70283835 G>C), RS1000620261 (2:70286198 G>A), RS1000686899 (2:70284909 C>T), RS1000928744 (2:70283473 ATTC>A), RS1001075626 (2:70295405 A>G), RS1001271946 (2:70283350 G>T), RS1001341666 (2:70295054 C>G), RS1001589473 (2:70290612 G>A,T), RS1001641607 (2:70283703 G>A), RS1001926555 (2:70289354 T>C,G), RS1002088964 (2:70283393 T>G), RS1002182274 (2:70294753 T>G), RS1002439621 (2:70283064 C>T), RS1002961896 (2:70287109 A>G)

Disease associations

OMIM: gene MIM:603542 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002481_1	Acne (severe)	5.000000e-06
GCST006661_199	Male-pattern baldness	3.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, affects cotreatment	5
bisphenol A	affects expression, decreases expression, increases expression	4
bisphenol S	increases expression, affects cotreatment	2
Ethanol	decreases expression, affects cotreatment, increases abundance	2
Valproic Acid	affects cotreatment, increases expression	2
Particulate Matter	increases abundance, increases expression, affects cotreatment, decreases expression	2
bisphenol F	increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorodecanoic acid	increases expression	1
pinosylvin	decreases expression	1
CD 437	decreases expression	1
chloropicrin	increases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
pyrimidifen	increases expression	1
jinfukang	decreases expression	1
bisphenol AF	increases expression	1
Fulvestrant	increases methylation	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diuron	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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