SRGN

Summary

SRGN (serglycin, HGNC:9361) is a protein-coding gene on chromosome 10q22.1, encoding Serglycin (P10124). Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles.

This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene.

Source: NCBI Gene 5552 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_002727

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9361
Approved symbol	SRGN
Name	serglycin
Location	10q22.1
Locus type	gene with protein product
Status	Approved
Aliases	PPG
Ensembl gene	ENSG00000122862
Ensembl biotype	protein_coding
OMIM	177040
Entrez	5552

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000242465, ENST00000462445, ENST00000718456

RefSeq mRNA: 3 — MANE Select: NM_002727 NM_001321053, NM_001321054, NM_002727

CCDS: CCDS7285

Canonical transcript exons

ENST00000242465 — 3 exons

Exon	Start	End
ENSE00000707323	69097084	69097231
ENSE00001026844	69103871	69104805
ENSE00001867683	69088103	69088236

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 640.2767 / max 59794.2078, expressed in 1364 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105298	635.9748	1364
105305	0.8727	305
105308	0.7193	247
105307	0.6409	233
105304	0.6122	223
105296	0.4219	116
105306	0.3073	134
105297	0.2780	114
105295	0.1995	89
105300	0.1318	59

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	99.96	gold quality
bone marrow	UBERON:0002371	99.91	gold quality
monocyte	CL:0000576	99.86	gold quality
mononuclear cell	CL:0000842	99.85	gold quality
leukocyte	CL:0000738	99.83	gold quality
bone marrow cell	CL:0002092	99.83	gold quality
blood	UBERON:0000178	99.78	gold quality
vermiform appendix	UBERON:0001154	99.57	gold quality
periodontal ligament	UBERON:0008266	99.56	gold quality
endothelial cell	CL:0000115	99.51	gold quality
pericardium	UBERON:0002407	99.51	gold quality
granulocyte	CL:0000094	99.50	gold quality
lower lobe of lung	UBERON:0008949	99.47	gold quality
right lung	UBERON:0002167	99.44	gold quality
lymph node	UBERON:0000029	99.43	gold quality
adult organism	UBERON:0007023	99.42	gold quality
olfactory bulb	UBERON:0002264	99.39	gold quality
caecum	UBERON:0001153	99.38	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.33	gold quality
spleen	UBERON:0002106	99.31	gold quality
gall bladder	UBERON:0002110	99.29	gold quality
visceral pleura	UBERON:0002401	99.25	gold quality
upper lobe of lung	UBERON:0008948	99.21	gold quality
upper lobe of left lung	UBERON:0008952	99.21	gold quality
vena cava	UBERON:0004087	99.12	gold quality
omental fat pad	UBERON:0010414	99.09	gold quality
peritoneum	UBERON:0002358	99.08	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.07	gold quality
pleura	UBERON:0000977	99.03	gold quality
choroid plexus epithelium	UBERON:0003911	99.00	gold quality

Single-cell (SCXA)

Detected in 80 experiment(s), a significant marker in 72.

Experiment	Marker?	Max mean expression
E-CURD-97	yes	19108.96
E-MTAB-10432	yes	16203.96
E-GEOD-89232	yes	14274.01
E-MTAB-9801	yes	13511.20
E-MTAB-8495	yes	12297.37
E-HCAD-29	yes	11631.69
E-MTAB-9221	yes	10525.22
E-MTAB-8142	yes	10348.27
E-CURD-122	yes	9185.91
E-GEOD-130148	yes	8187.48
E-CURD-46	yes	8057.17
E-MTAB-6075	yes	7594.82
E-MTAB-7407	yes	7296.67
E-HCAD-4	yes	7107.82
E-MTAB-9435	yes	6808.57

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NEUROD6, NR4A2, TP53

miRNA regulators (miRDB)

58 targeting SRGN, 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-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-609	99.82	64.26	505
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-103A-1-5P	99.39	67.78	1545

Literature-anchored findings (GeneRIF, showing 39)

• proapoptotic granzyme is exocytosed predominantly as a macromolecular complex with serglycin (PMID:12388539)
• cell- and differentiation-specific alterations in chromatin structure may control serglycin gene expression (PMID:14506241)
• serglycin-bound granzyme B in high-molecular-weight degranulate material from cytotoxic T lymphocytes predominantly followed a dynamin-dependent pathway to kill target cells (PMID:14739229)
• mechanism of delivery is proposed entailing electrostatic transfer of granzyme B from serglycin to cell surface proteins (PMID:15788411)
• Serglycin release is a constitutive process, which may be of fundamental biological importance in the study of multiple myeloma. (PMID:16870619)
• Serglycin is of importance for secretory processes in human monocytes. (PMID:17909965)
• Mutations in SRGN is not associated with familial hemophagocytic lymphohistiocytosis (PMID:18000860)
• Serglycin is a major proteoglycan in polarized human endothelial cells and is implicated in the secretion of the chemokine GROalpha/CXCL1. (PMID:21075844)
• Serglycin secreted by human multiple myeloma cell lines inhibits both the classical and lectin pathways of complement, without influencing alternative pathway activity. (PMID:21268013)
• Serglycin regulates NPC metastasis via autocrine and paracrine routes, and that it serves as an independent prognostic indicator of metastasis-free survival and disease-free survival in NPC patients. (PMID:21289131)
• Human granulocyte precursors transfected with siRNA against serglycin displayed reduced capability to retain fully processed HNP-1. (PMID:21849484)
• This review covers recent studies on the involvement of serglycin in various pathological conditions, as well as its roles in immunity, hemostasis, cell growth, apoptosis, and reproduction. (PMID:22807344)
• These results suggest that human epicardial adipose tissue (EAT) has strong inflammatory properties in patients with coronary artery disease and provide novel evidence that serglycin is an adipocytokine highly expressed in EAT. (PMID:23376071)
• Cell-surface SRGN promotes the adhesion of myeloma cells to collagen type I. (PMID:23387827)
• The reduced expression of SRGN was accompanied by elevated levels of E-cadherin. (PMID:23996242)
• These studies provide direct evidence for a critical role for serglycin in MM pathogenesis and show that targeting serglycin may provide a novel therapeutic approach for MM. (PMID:24403068)
• These results suggest that different signaling pathways are involved in regulating secretion of serglycin and partner molecules in activated endothelial cells. (PMID:24513305)
• Patients with NPC with tumors showing strong tumor intensity and low infiltrated percentage of tumor-infiltrated lymphocytes with serglycin may be at high risk for distant metastases. (PMID:24995621)
• The elevated levels of serglycin in aggressive cancer and stromal cells may suggest a key role for serglycin in disease progression (PMID:26581653)
• These results suggest functions for serglycin in endothelial cells trough interactions with partner molecules, in biological processes with relevance for diabetic complications, cardiovascular disease and cancer development. (PMID:26694746)
• Extracellular spce serglycin upregulated CD44 receptor expression to maintain nasopharyngeal carcinoma stemness by interacting with CD44 and activating the MAPK/beta-catenin pathway. (PMID:27809309)
• SRGN secreted by tumor cells and stromal components in the TME promotes malignant phenotypes through interacting with tumor cell receptor CD44 (PMID:27819672)
• SRGN expression is significantly upregulated in human masticatory mucosa during wound healing (PMID:28005267)
• Results show that serglycin associates with an aggressive mesenchymal phenotype in breast cancer cells that is accompanied by increased proteolytic potential, drug resistance and inflammatory response. IL-8 is highlighted as a key inflammatory mediator interconnected with serglycin in breast cancer cells that evokes an invasive phenotype via activation of various downstream signaling pathways. (PMID:29842969)
• SRGN overexpression promoted colorectal cancer cell migration and invasion and SRGN was physically binding to a hypoxia response element in its promoter region. (PMID:30121667)
• The current study suggests that increased maternal serum serglycin is associated with fetal growth restriction in early-onset preeclampsia. (PMID:31018746)
• Serglycin is increased in human chondrocytes after interleukin-1beta stimulation. It binds CD44 receptor to amplify the inflammatory response. (PMID:31145901)
• Proteoglycan SRGN promotes NSCLC cell migration via the binding of its GAG motif to CD44. SRGN/CD44 interaction induces Rho-family GTPase-mediated cytoskeleton reorganization and facilitates Src-mediated focal adhesion turnover, leading to increased cell migration. (PMID:31898491)
• SRGN crosstalks with YAP to maintain chemoresistance and stemness in breast cancer cells by modulating HDAC2 expression. (PMID:32292495)
• The role of SRGN in the survival and immune infiltrates of skin cutaneous melanoma (SKCM) and SKCM-metastasis patients. (PMID:32370744)
• SRGN, a new identified shear-stress-responsive gene in endothelial cells. (PMID:32712749)
• Prognostic Significance of Hematopoietic-cell Serglycin for the Survival of Hepatocellular Carcinoma: A Single-center Retrospective Study. (PMID:33081679)
• The relationship between plasma serglycin levels and the diagnosis of diabetic retinopathy. (PMID:33314317)
• The autoregulatory serglycin/CD44 axis drives stemness-like phenotypes in TNBC in a beta-catenin-dependent manner. (PMID:33634997)
• SRGN-Triggered Aggressive and Immunosuppressive Phenotype in a Subset of TTF-1-Negative Lung Adenocarcinomas. (PMID:34524427)
• Serglycin induces osteoclastogenesis and promotes tumor growth in giant cell tumor of bone. (PMID:34556636)
• Clinical Significance of Serglycin Expression in Human Breast Cancer Patients. (PMID:34969735)
• Serglycin secreted by late-stage nucleus pulposus cells is a biomarker of intervertebral disc degeneration. (PMID:38167807)
• miR-26b-5p suppresses chemoresistance in breast cancer by targeting serglycin: Erratum. (PMID:38411026)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	srgn	ENSDARG00000077069
mus_musculus	Srgn	ENSMUSG00000020077
rattus_norvegicus	Srgn	ENSRNOG00000000394

Protein

Protein identifiers

Serglycin — P10124 (reviewed: P10124)

Alternative names: Hematopoietic proteoglycan core protein, Platelet proteoglycan core protein, Secretory granule proteoglycan core protein

All UniProt accessions (1): P10124

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF and may also regulate protease secretion. Inhibits bone mineralization.

Subunit / interactions. Binds to activated CD44 and to GZMB.

Subcellular location. Cytoplasmic granule. Cytolytic granule. Secreted. Extracellular space. Golgi apparatus.

Post-translational modifications. O-glycosylated; contains chondroitin sulfate and heparan sulfate.

Induction. By Epstein-Barr virus (EBV).

Similarity. Belongs to the serglycin family.

RefSeq proteins (2): NP_001307982, NP_002718* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007455	Serglycin	Family

Pfam: PF04360

UniProt features (24 total): repeat 9, glycosylation site 8, region of interest 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10124-F1	59.37	0.14

Functional residue map

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

Disulfide bonds (1): 40–49

Glycosylation sites (8): 94, 96, 100, 102, 104, 106, 108, 110

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-109582	Hemostasis
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 454 (showing top): MODULE_52, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, WALLACE_PROSTATE_CANCER_RACE_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, HNF3ALPHA_Q6, MCLACHLAN_DENTAL_CARIES_UP, BASSO_B_LYMPHOCYTE_NETWORK, GOCC_SECRETORY_GRANULE, MODULE_151, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_VESICLE_ORGANIZATION, MODULE_45, MAHADEVAN_IMATINIB_RESISTANCE_DN, MODULE_16

GO Biological Process (11): negative regulation of cytokine production (GO:0001818), apoptotic process (GO:0006915), protein processing (GO:0016485), negative regulation of bone mineralization (GO:0030502), biomineral tissue development (GO:0031214), secretory granule organization (GO:0033363), mast cell secretory granule organization (GO:0033364), T cell secretory granule organization (GO:0033371), maintenance of protease location in mast cell secretory granule (GO:0033373), maintenance of granzyme B location in T cell secretory granule (GO:0033382), granzyme-mediated programmed cell death signaling pathway (GO:0140507)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi apparatus (GO:0005794), secretory granule (GO:0030141), extracellular matrix (GO:0031012), platelet alpha granule lumen (GO:0031093), mast cell granule (GO:0042629), cytolytic granule (GO:0044194), lysosome (GO:0005764)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
programmed cell death	2
secretory granule organization	2
endomembrane system	2
lysosome	2
cytokine production	1
regulation of cytokine production	1
negative regulation of gene expression	1
negative regulation of multicellular organismal process	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
proteolysis	1
protein maturation	1
negative regulation of ossification	1
bone mineralization	1
regulation of bone mineralization	1
negative regulation of biomineral tissue development	1
tissue development	1
animal organ development	1
endomembrane system organization	1
vesicle organization	1
protease localization to mast cell secretory granule	1
maintenance of protein location in mast cell secretory granule	1
maintenance of protease location in T cell secretory granule	1
granzyme B localization to T cell secretory granule	1
signal transduction	1
binding	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
secretory vesicle	1
external encapsulating structure	1
platelet alpha granule	1
secretory granule lumen	1
lytic vacuole	1

Protein interactions and networks

STRING

1688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRGN	CD44	P16070	962
SRGN	PRF1	P14222	935
SRGN	GZMB	P10144	921
SRGN	CPA3	P15088	718
SRGN	CPA4	Q9UI42	678
SRGN	CMA1	P23946	639
SRGN	HSPG2	P98160	597
SRGN	LAPTM5	Q13571	588
SRGN	TNF	P01375	576
SRGN	NDST2	P52849	563
SRGN	IL1B	P01584	559
SRGN	MMP13	P45452	540
SRGN	AGRN	O00468	532
SRGN	THEMIS2	Q5TEJ8	520
SRGN	ABCG2	Q9UNQ0	507

IntAct

60 interactions, top by confidence:

A	B	Type	Score
SGTA	SRGN	psi-mi:“MI:0915”(physical association)	0.780
SRGN	SGTA	psi-mi:“MI:0915”(physical association)	0.780
SRGN	UBQLN1	psi-mi:“MI:0915”(physical association)	0.720
SRGN	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	SRGN	psi-mi:“MI:0915”(physical association)	0.560
SRGN	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
SRGN	SGTB	psi-mi:“MI:0915”(physical association)	0.560
SRGN	NCALD	psi-mi:“MI:0915”(physical association)	0.560
PEX12	SRGN	psi-mi:“MI:0915”(physical association)	0.560
GZMB	SRGN	psi-mi:“MI:0915”(physical association)	0.520
SRGN	GZMB	psi-mi:“MI:0915”(physical association)	0.520
VCAN	SRGN	psi-mi:“MI:0915”(physical association)	0.520
SRGN	MBL2	psi-mi:“MI:0407”(direct interaction)	0.440
	SRGN	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (690): SGTA (Two-hybrid), UBQLN1 (Two-hybrid), SGTA (Two-hybrid), SRGN (Two-hybrid), SRGN (Affinity Capture-MS), SRGN (Two-hybrid), SRGN (Two-hybrid), SRGN (Two-hybrid), UBQLN1 (Two-hybrid), UBQLN2 (Two-hybrid), SGTB (Two-hybrid), SRGN (Reconstituted Complex), SRGN (Affinity Capture-MS), UBA6 (Affinity Capture-MS), PLEKHG3 (Affinity Capture-MS)

ESM2 similar proteins: A0A182RFI2, A3KQQ9, B6DDU5, B9WZ56, C1IBZ3, C6EVG1, F5HF90, G5EHI7, L0MZ46, O15946, O36359, O97373, P06308, P0CAX4, P0DPY2, P0DQF2, P0DTJ9, P10124, P10451, P13438, P13609, P15522, P16845, P18897, P20394, P22334, P23117, P23498, P26349, P42634, P54684, P55796, P80195, P81447, Q03345, Q09418, Q09953, Q1AGV6, Q23262, Q23971

Diamond homologs: P04917, P10124, P13609

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

494 predictions. Top by Δscore:

Variant	Effect	Δscore
10:69088233:CAAG:C	donor_loss	1.0000
10:69088234:AAGG:A	donor_loss	1.0000
10:69088235:AGG:A	donor_loss	1.0000
10:69088236:GGTA:G	donor_loss	1.0000
10:69093284:G:GG	donor_gain	1.0000
10:69088237:G:GG	donor_gain	0.9900
10:69088238:T:A	donor_loss	0.9900
10:69097230:CC:C	donor_gain	0.9900
10:69097232:G:GG	donor_gain	0.9900
10:69098077:T:TA	acceptor_gain	0.9900
10:69103862:A:AG	acceptor_gain	0.9900
10:69103863:T:G	acceptor_gain	0.9900
10:69088235:AG:A	donor_gain	0.9800
10:69088236:GG:G	donor_gain	0.9800
10:69097078:GGGCA:G	acceptor_loss	0.9800
10:69097079:GGCAG:G	acceptor_loss	0.9800
10:69097080:GCAGG:G	acceptor_loss	0.9800
10:69097081:CAG:C	acceptor_loss	0.9800
10:69097082:AGGT:A	acceptor_loss	0.9800
10:69097227:TTTCC:T	donor_gain	0.9800
10:69093283:A:AG	donor_gain	0.9700
10:69093287:A:AG	donor_gain	0.9700
10:69098078:G:A	acceptor_gain	0.9700
10:69103864:A:AG	acceptor_gain	0.9700
10:69103865:C:G	acceptor_gain	0.9700
10:69103869:A:AG	acceptor_gain	0.9700
10:69103870:G:GG	acceptor_gain	0.9700
10:69103870:GAAA:G	acceptor_gain	0.9700
10:69093157:T:TA	donor_gain	0.9600
10:69093158:A:AA	donor_gain	0.9600

AlphaMissense

1030 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:69097122:T:A	C40S	0.977
10:69097123:G:C	C40S	0.977
10:69097149:T:A	C49S	0.976
10:69097150:G:C	C49S	0.976
10:69097149:T:C	C49R	0.961
10:69097115:G:C	W37C	0.957
10:69097115:G:T	W37C	0.957
10:69097151:C:G	C49W	0.954
10:69097123:G:T	C40F	0.952
10:69097122:T:C	C40R	0.949
10:69097123:G:A	C40Y	0.948
10:69097150:G:A	C49Y	0.938
10:69097124:C:G	C40W	0.936
10:69097150:G:T	C49F	0.925
10:69088236:G:C	G27R	0.906
10:69097149:T:G	C49G	0.897
10:69097107:T:G	Y35D	0.872
10:69097111:A:C	Q36P	0.849
10:69097122:T:G	C40G	0.846
10:69097174:T:G	F57C	0.845
10:69097173:T:C	F57L	0.838
10:69097175:C:A	F57L	0.838
10:69097175:C:G	F57L	0.838
10:69097164:G:A	G54R	0.834
10:69097164:G:C	G54R	0.834
10:69097108:A:C	Y35S	0.823
10:69097120:G:C	R39P	0.814
10:69097148:C:A	N48K	0.809
10:69097148:C:G	N48K	0.809
10:69097108:A:G	Y35C	0.803

dbSNP variants (sampled 300 via entrez): RS1000087624 (10:69093025 A>C), RS1000186781 (10:69086564 A>G,T), RS1000216656 (10:69101595 C>G,T), RS1000290166 (10:69101309 C>A,T), RS1000615053 (10:69095369 C>T), RS1000625767 (10:69099736 T>C), RS1000780004 (10:69104407 G>A,T), RS1000864671 (10:69098034 T>C), RS1000899976 (10:69093255 G>C), RS1001030368 (10:69091198 C>T), RS1001150845 (10:69087860 GA>G,GAA), RS1001212645 (10:69093597 G>A,C), RS1001265161 (10:69087631 A>C), RS1001372059 (10:69094668 C>T), RS1001399636 (10:69087336 G>T)

Disease associations

OMIM: gene MIM:177040 | 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
GCST002110_3	Glycemic traits (pregnancy)	1.000000e-22
GCST010083_54	Hemoglobin levels	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004307	glucose tolerance test
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases expression	3
sodium arsenite	affects expression, affects cotreatment, increases abundance, increases expression	3
Air Pollutants	affects expression, increases abundance, decreases expression	3
Benzo(a)pyrene	affects methylation, increases expression	3
chloropicrin	affects expression, decreases expression	2
Dexamethasone	increases expression	2
Nickel	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
trichostatin A	increases expression	1
hydroxyhydroquinone	increases expression	1
arsenite	affects binding, increases reaction	1
sulforaphane	increases expression	1
tetrathiomolybdate	increases expression	1
pyrrolidine dithiocarbamic acid	affects cotreatment, increases expression	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
bathocuproine sulfonate	increases expression, affects cotreatment	1
cupric chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
2-palmitoylglycerol	increases expression	1
3-nitrobenzanthrone	increases expression	1
monomethylarsonous acid	increases expression	1
ICG 001	increases expression	1
jinfukang	decreases expression	1
incobotulinumtoxinA	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2HC	Abcam HeLa SRGN KO	Cancer cell line	Female

Clinical trials (associated diseases)

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