SNRPD2

Summary

SNRPD2 (small nuclear ribonucleoprotein D2 polypeptide, HGNC:11159) is a protein-coding gene on chromosome 19q13.2-q13.3, encoding Small nuclear ribonucleoprotein Sm D2 (P62316). 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 belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6633 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 20 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_001384647

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11159
Approved symbol	SNRPD2
Name	small nuclear ribonucleoprotein D2 polypeptide
Location	19q13.2-q13.3
Locus type	gene with protein product
Status	Approved
Aliases	Sm-D2
Ensembl gene	ENSG00000125743
Ensembl biotype	protein_coding
OMIM	601061
Entrez	6633

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000342669, ENST00000391932, ENST00000585392, ENST00000587367, ENST00000587579, ENST00000588301, ENST00000588599, ENST00000590212

RefSeq mRNA: 5 — MANE Select: NM_001384647 NM_001369751, NM_001369752, NM_001384647, NM_004597, NM_177542

CCDS: CCDS33053, CCDS54281, CCDS92646

Canonical transcript exons

ENST00000342669 — 3 exons

Exon	Start	End
ENSE00002778615	45687460	45687727
ENSE00002795847	45691887	45691953
ENSE00003548151	45688387	45688566

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 179.7856 / max 4188.2014, expressed in 1825 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169605	179.7856	1825
181553	128.6987	1825
181552	0.3318	155
181554	0.2222	81
181555	0.2186	87

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	99.52	gold quality
type B pancreatic cell	CL:0000169	99.46	gold quality
embryo	UBERON:0000922	99.38	gold quality
oral cavity	UBERON:0000167	99.33	gold quality
corpus epididymis	UBERON:0004359	99.33	gold quality
left ovary	UBERON:0002119	99.24	gold quality
ganglionic eminence	UBERON:0004023	99.21	gold quality
cauda epididymis	UBERON:0004360	99.20	gold quality
caput epididymis	UBERON:0004358	99.19	gold quality
islet of Langerhans	UBERON:0000006	99.17	gold quality
superficial temporal artery	UBERON:0001614	99.17	gold quality
mammalian vulva	UBERON:0000997	99.16	gold quality
right ovary	UBERON:0002118	99.15	gold quality
endocervix	UBERON:0000458	99.14	gold quality
pituitary gland	UBERON:0000007	99.12	gold quality
seminal vesicle	UBERON:0000998	99.12	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.12	gold quality
adenohypophysis	UBERON:0002196	99.11	gold quality
lymph node	UBERON:0000029	99.07	gold quality
trabecular bone tissue	UBERON:0002483	99.07	gold quality
penis	UBERON:0000989	99.05	gold quality
right testis	UBERON:0004534	99.05	gold quality
upper arm skin	UBERON:0004263	99.04	gold quality
ectocervix	UBERON:0012249	99.04	gold quality
skin of abdomen	UBERON:0001416	99.03	gold quality
cartilage tissue	UBERON:0002418	99.03	gold quality
mammary duct	UBERON:0001765	99.02	gold quality
left testis	UBERON:0004533	99.02	gold quality
stromal cell of endometrium	CL:0002255	99.01	gold quality
upper leg skin	UBERON:0004262	99.00	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	15.35
E-CURD-122	yes	11.87
E-MTAB-9388	no	3015.96
E-MTAB-7606	no	2031.13
E-GEOD-110499	no	941.21
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 2)

• Screen using siRNA revealed depletion of U1 snRNP components SNRPA, SNRNP70 or SNRPD2 caused significant cytoplasmic localization of MEG3 reporter transcripts. (PMID:31107149)
• Intron Retention of DDX39A Driven by SNRPD2 is a Crucial Splicing Axis for Oncogenic MYC/Spliceosome Program in Hepatocellular Carcinoma. (PMID:39018261)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	snrpd2	ENSDARG00000040440
mus_musculus	Snrpd2	ENSMUSG00000040824
rattus_norvegicus	Snrpd2	ENSRNOG00000015844
rattus_norvegicus	Snrpd2l	ENSRNOG00000048758
drosophila_melanogaster	SmD2	FBGN0261789
caenorhabditis_elegans		WBGENE00004917

Protein

Protein identifiers

Small nuclear ribonucleoprotein Sm D2 — P62316 (reviewed: P62316)

Alternative names: snRNP core protein D2

All UniProt accessions (3): P62316, K7EJB5, K7ERG4

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.

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 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 SMN1; the interaction is direct. Interacts with GEMIN2; the interaction is direct. Interacts with SNRPD1; the interaction is direct. Interacts with SNRPF; the interaction is direct.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Miscellaneous. In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with Sm specificity.

Similarity. Belongs to the snRNP core protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
P62316-1	1	yes
P62316-2	2

RefSeq proteins (5): NP_001356680, NP_001356681, NP_001371576, NP_004588, NP_808210 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001163	Sm_dom_euk/arc	Domain
IPR010920	LSM_dom_sf	Homologous_superfamily
IPR027248	Sm_D2	Family
IPR047575	Sm	Domain

Pfam: PF01423

UniProt features (25 total): strand 7, helix 4, modified residue 3, turn 2, cross-link 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

81 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
4F7U	X-RAY DIFFRACTION	1.9
1B34	X-RAY DIFFRACTION	2.5
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
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
8H6E	ELECTRON MICROSCOPY	3.2
8Q7Q	ELECTRON MICROSCOPY	3.2
8RC0	ELECTRON MICROSCOPY	3.2
9GC0	ELECTRON MICROSCOPY	3.2
8H6J	ELECTRON MICROSCOPY	3.25
5XJQ	X-RAY DIFFRACTION	3.28

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62316-F1	91.03	0.79

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 (5): 2, 9, 12, 6, 8

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-191859	snRNP Assembly
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72165	mRNA Splicing - Minor Pathway
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-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: 439 (showing top): E2F_Q4, GNF2_MSH2, TGCGCANK_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, E2F4DP1_01, MODULE_151, CMYB_01, GCM_NPM1, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, MORF_HDAC1, HSIAO_HOUSEKEEPING_GENES, GTACAGG_MIR486, SHIPP_DLBCL_CURED_VS_FATAL_DN

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 (23): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U5 snRNP (GO:0005682), 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), pICln-Sm protein complex (GO:0034715), SMN-Sm protein complex (GO:0034719), U4/U6 x U5 tri-snRNP complex (GO:0046540), extracellular exosome (GO:0070062), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 2 spliceosome (GO:0071007), precatalytic spliceosome (GO:0071011), catalytic step 2 spliceosome (GO:0071013), cytoplasm (GO:0005737), spliceosomal snRNP complex (GO:0097525), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
mRNA Splicing	2
Metabolism of RNA	2
Metabolism of non-coding RNA	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
Viral Infection Pathways	1
SARS-CoV Infections	1
SARS-CoV-2 Infection	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
spliceosomal snRNP complex	4
spliceosomal complex	4
cytoplasm	4
Sm-like protein family complex	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
U5 snRNP	2
U2-type spliceosomal complex	2
U2 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
methyltransferase complex	1
SMN complex	1
U4/U6 snRNP	1
spliceosomal tri-snRNP complex	1
extracellular vesicle	1
U1 snRNP	1
U4/U6 x U5 tri-snRNP complex	1
precatalytic spliceosome	1
U6 snRNP	1
catalytic step 2 spliceosome	1
Prp19 complex	1
catalytic complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

303 interactions, top by confidence:

A	B	Type	Score
GRB2	EGFR	psi-mi:“MI:0914”(association)	0.980
SMN1	GEMIN2	psi-mi:“MI:0914”(association)	0.960
IFIT3	IFIT1	psi-mi:“MI:0914”(association)	0.920
SNRPF	SNRPD2	psi-mi:“MI:0915”(physical association)	0.890
SNRPD2	CLNS1A	psi-mi:“MI:0915”(physical association)	0.880
CLNS1A	SNRPD2	psi-mi:“MI:0915”(physical association)	0.880
CLNS1A	SNRPD1	psi-mi:“MI:0915”(physical association)	0.880
SNRPB	SNRNP70	psi-mi:“MI:0915”(physical association)	0.830
CLNS1A	PRMT5	psi-mi:“MI:0914”(association)	0.830
IFIT2	IFIT3	psi-mi:“MI:0914”(association)	0.780
CLNS1A	SNRPE	psi-mi:“MI:0914”(association)	0.770
CLNS1A	SNRPE	psi-mi:“MI:0915”(physical association)	0.770
GEMIN2	SNRPE	psi-mi:“MI:0914”(association)	0.770
GEMIN2	SNRPE	psi-mi:“MI:0915”(physical association)	0.770
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPD2	SNRPD1	psi-mi:“MI:0915”(physical association)	0.680
SNRNP70	GEMIN2	psi-mi:“MI:0914”(association)	0.640
SNRPA1	HTATSF1	psi-mi:“MI:0914”(association)	0.640

BioGRID (678): SNRPD2 (Affinity Capture-MS), SNRPD2 (Two-hybrid), CEP70 (Two-hybrid), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), SNRPD2 (Affinity Capture-MS), DDX23 (Co-fractionation), LSM7 (Co-fractionation), LUC7L2 (Co-fractionation)

ESM2 similar proteins: A5DRQ6, A6S5C9, A6ZYX7, A7F5M4, A7TK72, A9CTE0, B9W892, O14036, O15116, O42978, O74499, P0CR24, P0CR25, P23059, P40089, P53905, P57670, P62316, P62317, P62322, Q06217, Q06406, Q0UWI9, Q18786, Q1ZXD5, Q2HJH0, Q3SZF8, Q54F84, Q54HF6, Q54NC5, Q54W83, Q552U1, Q55EX5, Q5AAV3, Q5E9Z8, Q5R628, Q6BR90, Q6CPS7, Q6FLG2, Q6FYB6

Diamond homologs: O14036, P62310, P62311, P62316, P62317, Q06217, Q18786, Q29329, Q32PE9, Q3SZF8, Q54NC5, Q9VI10, B6YUU5, C5A1H1, C6A1T2, O26745, O29386, O74016, O74499, P57743, P62322, Q0W8R9, Q12U30, Q1ZXK3, Q2HJH0, Q465S1, Q55EX5, Q5JIE0, Q5R628, Q8PZZ9, Q8TL47, Q8U0P4, Q9C6K5, Q9LMN4, Q9V0Y8, Q9VXE0, Q9Y4Y9, Q9Y7M4, Q9YEQ5, Q05856

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SNRPD2	“form complex”	“U4/U6.U5 snRNP complex”	binding
SNRPD2	“form complex”	“U2 snRNP complex”	binding
SNRPD2	“form complex”	“U1 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 190 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	8	34.1×	2e-09
mRNA Splicing - Minor Pathway	16	24.1×	1e-16
mRNA Splicing	30	22.1×	3e-30
Processing of Capped Intron-Containing Pre-mRNA	32	17.6×	4e-29
mRNA Splicing - Major Pathway	47	17.2×	2e-43
snRNP Assembly	12	17.0×	3e-10
mRNA Polyadenylation	27	15.9×	4e-23
CHD1 and CHD2 subfamily	21	15.3×	2e-17

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	15	54.8×	6e-21
spliceosomal tri-snRNP complex assembly	8	52.6×	1e-10
spliceosomal snRNP assembly	14	47.6×	1e-18
RNA splicing, via transesterification reactions	12	43.8×	3e-15
mRNA cis splicing, via spliceosome	5	29.0×	7e-05
spliceosomal complex assembly	8	28.2×	4e-08
mRNA splicing, via spliceosome	48	25.7×	3e-52
amyloid fibril formation	5	17.6×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

447 predictions. Top by Δscore:

Variant	Effect	Δscore
19:45687723:AGTGC:A	acceptor_gain	1.0000
19:45687724:GTGC:G	acceptor_gain	1.0000
19:45687725:TGC:T	acceptor_gain	1.0000
19:45687725:TGCC:T	acceptor_loss	1.0000
19:45687726:GC:G	acceptor_gain	1.0000
19:45687727:CCTGG:C	acceptor_gain	1.0000
19:45687728:C:CA	acceptor_loss	1.0000
19:45687728:C:CC	acceptor_gain	1.0000
19:45687731:G:GC	acceptor_gain	1.0000
19:45688382:CTCA:C	donor_loss	1.0000
19:45688383:TCA:T	donor_loss	1.0000
19:45688384:CA:C	donor_loss	1.0000
19:45688385:A:AC	donor_gain	1.0000
19:45688385:AC:A	donor_gain	1.0000
19:45688386:C:CA	donor_gain	1.0000
19:45688386:CC:C	donor_gain	1.0000
19:45688386:CCT:C	donor_gain	1.0000
19:45688386:CCTA:C	donor_gain	1.0000
19:45688386:CCTAT:C	donor_gain	1.0000
19:45688562:GGCTC:G	acceptor_gain	1.0000
19:45688563:GCTC:G	acceptor_gain	1.0000
19:45688564:CTC:C	acceptor_gain	1.0000
19:45688564:CTCC:C	acceptor_gain	1.0000
19:45688565:TC:T	acceptor_gain	1.0000
19:45688565:TCC:T	acceptor_loss	1.0000
19:45688565:TCCT:T	acceptor_gain	1.0000
19:45688566:CC:C	acceptor_gain	1.0000
19:45688567:C:CC	acceptor_gain	1.0000
19:45688567:CT:C	acceptor_loss	1.0000
19:45688571:A:AC	acceptor_gain	1.0000

AlphaMissense

782 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:45687593:A:T	V106D	1.000
19:45687599:T:A	D104V	1.000
19:45687600:C:G	D104H	1.000
19:45687602:C:A	G103V	1.000
19:45687602:C:T	G103E	1.000
19:45687603:C:A	G103W	1.000
19:45687603:C:G	G103R	1.000
19:45687603:C:T	G103R	1.000
19:45687605:C:A	R102L	1.000
19:45687606:G:A	R102C	1.000
19:45687606:G:T	R102S	1.000
19:45687608:A:G	L101P	1.000
19:45687610:G:C	F100L	1.000
19:45687610:G:T	F100L	1.000
19:45687611:A:C	F100C	1.000
19:45687611:A:G	F100S	1.000
19:45687612:A:G	F100L	1.000
19:45687629:C:G	R94P	1.000
19:45687630:G:T	R94S	1.000
19:45687688:C:A	W74C	1.000
19:45687688:C:G	W74C	1.000
19:45687690:A:G	W74R	1.000
19:45687690:A:T	W74R	1.000
19:45687696:C:T	E72K	1.000
19:45687710:A:G	L67P	1.000
19:45687710:A:T	L67Q	1.000
19:45687713:A:T	V66E	1.000
19:45687716:A:C	M65R	1.000
19:45687716:A:T	M65K	1.000
19:45687718:G:C	N64K	1.000

dbSNP variants (sampled 300 via entrez): RS1000251542 (19:45691305 A>G), RS1000904139 (19:45691967 T>C,G), RS1001526113 (19:45690002 A>G), RS1001883458 (19:45689969 G>A), RS1002165016 (19:45690371 C>T), RS1002865639 (19:45691747 C>T), RS1003527051 (19:45688948 T>C), RS1003615339 (19:45688786 G>A), RS1003889087 (19:45691284 C>T), RS1003890372 (19:45692301 T>C), RS1003941348 (19:45691958 G>A,T), RS1004894654 (19:45693875 G>A,C,T), RS1005066124 (19:45687903 C>T), RS1005533947 (19:45690369 C>G,T), RS1005561869 (19:45689931 G>A)

Disease associations

OMIM: gene MIM:601061 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001521_31	Subcutaneous adipose tissue	2.000000e-06
GCST001521_39	Subcutaneous adipose tissue	1.000000e-06
GCST004787_14	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	3.000000e-08
GCST007612_3	Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy)	1.000000e-08
GCST010136_35	Fruit consumption	1.000000e-11
GCST010703_44	Brain morphology (MOSTest)	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725105 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 4 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.13	Kd	74	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 11 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179142: Binding affinity against SNRPD2 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0740	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
bisphenol A	affects expression, decreases expression	2
bisphenol S	affects expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	2
Valproic Acid	affects cotreatment, increases expression, increases methylation	2
Particulate Matter	decreases reaction, increases expression, decreases expression, increases abundance	2
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
beauvericin	affects cotreatment, increases expression	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
perfluorooctanoic acid	decreases expression	1
artenimol	affects binding	1
methacrylaldehyde	increases expression, increases abundance, affects cotreatment	1
hinokiflavone	increases sumoylation	1
CD 437	decreases expression	1
chloropicrin	increases expression	1
enniatins	affects cotreatment, increases expression	1
K 7174	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
Acrolein	increases expression, increases abundance, affects cotreatment	1
Vehicle Emissions	decreases reaction, increases expression	1
Benztropine	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652501	Binding	Binding affinity to human SNRPD2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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