SERPINB5

Summary

SERPINB5 (serpin family B member 5, HGNC:8949) is a protein-coding gene on chromosome 18q21.33, encoding Serpin B5 (P36952). Tumor suppressor.

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to act upstream of or within several processes, including extracellular matrix organization; prostate gland morphogenesis; and regulation of epithelial cell proliferation. Located in cytoplasm. Biomarker of hepatocellular carcinoma.

Source: NCBI Gene 5268 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_002639

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8949
Approved symbol	SERPINB5
Name	serpin family B member 5
Location	18q21.33
Locus type	gene with protein product
Status	Approved
Aliases	maspin
Ensembl gene	ENSG00000206075
Ensembl biotype	protein_coding
OMIM	154790
Entrez	5268

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000382771, ENST00000424602, ENST00000464346, ENST00000465652, ENST00000489441, ENST00000588986, ENST00000865015

RefSeq mRNA: 1 — MANE Select: NM_002639 NM_002639

CCDS: CCDS32839

Canonical transcript exons

ENST00000382771 — 7 exons

Exon	Start	End
ENSE00001493310	63503330	63505085
ENSE00001840443	63476958	63477045
ENSE00002854149	63484422	63484596
ENSE00002868402	63486946	63487083
ENSE00002931309	63489347	63489464
ENSE00003474924	63499120	63499287
ENSE00003553006	63492953	63493095

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 98.66.

FANTOM5 (CAGE): breadth broad, TPM avg 22.5385 / max 1527.4344, expressed in 274 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170575	22.4875	274
170574	0.0510	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	98.66	gold quality
skin of leg	UBERON:0001511	98.15	gold quality
lower esophagus mucosa	UBERON:0035834	96.34	gold quality
esophagus mucosa	UBERON:0002469	95.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.81	gold quality
zone of skin	UBERON:0000014	92.83	gold quality
upper leg skin	UBERON:0004262	91.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.33	gold quality
minor salivary gland	UBERON:0001830	84.98	gold quality
vagina	UBERON:0000996	81.62	gold quality
mouth mucosa	UBERON:0003729	80.30	gold quality
saliva-secreting gland	UBERON:0001044	78.69	gold quality
tonsil	UBERON:0002372	73.83	gold quality
penis	UBERON:0000989	73.68	gold quality
vermiform appendix	UBERON:0001154	73.17	gold quality
esophagus	UBERON:0001043	73.02	gold quality
rectum	UBERON:0001052	72.66	gold quality
small intestine Peyer’s patch	UBERON:0003454	72.22	gold quality
small intestine	UBERON:0002108	70.42	gold quality
skin of hip	UBERON:0001554	69.10	gold quality
gall bladder	UBERON:0002110	68.96	gold quality
oral cavity	UBERON:0000167	67.06	gold quality
nasal cavity mucosa	UBERON:0001826	66.27	gold quality
caecum	UBERON:0001153	66.09	gold quality
prostate gland	UBERON:0002367	65.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.12	gold quality
urinary bladder	UBERON:0001255	64.85	gold quality
endometrium epithelium	UBERON:0004811	64.63	gold quality
left testis	UBERON:0004533	63.75	gold quality
testis	UBERON:0000473	63.12	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-86618	yes	1179.99
E-CURD-114	yes	232.40
E-HCAD-1	yes	227.02
E-MTAB-8142	yes	129.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ATF2, CREBZF, E2F1, ESR1, ETS1, FOS, HDAC1, JUN, MBD2, NR3C1, PGR, PYHIN1, SMAD2, SMAD3, SNAI1, SP1, SPDEF, TBX6, TP53, TP63, TP73, YY1, ZEB1

miRNA regulators (miRDB)

64 targeting SERPINB5, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-4762-3P	99.43	69.72	2363

Literature-anchored findings (GeneRIF, showing 40)

• Pleiotrophic inhibition of pericellular urokinase-type plasminogen activator system by endogenous tumor suppressive maspin. (PMID:11751384)
• interaction with types I and III collagen (PMID:11788595)
• evidence of the temporal expression of maspin during human gestation and suggests a putative role for maspin in regulating the invasive activity of cytotrophoblasts at term (PMID:11969337)
• role in sensitizing breast carcinoma cells to induced apoptosis (PMID:12037665)
• maspin may be an important signal transduction molecule in its phosphorylated form. (PMID:12127964)
• Hypermethylation and histone deacetylation lead to silencing of the maspin gene in human breast cancer. (PMID:12220518)
• Maspin overexpression was significantly associated with a high grade, the presence of ascites, a lower likelihood of optimal surgical cytoreduction, and a shorter overall survival. Cytoplasmic maspin associates with a poorer outcome than nuclear. (PMID:12231537)
• maspin may contribute to gastric carcinogenesis (PMID:12366809)
• maspin is a non-inhibitory serpin and protease inhibition does not account for its activity as a tumor suppressor (PMID:12384513)
• The function of maspin as a tumor suppressor gene involved in tumor invasion, metastasis, and angiogenesis may not be limited to breast cancer. (PMID:12425757)
• Maspin, a breast tumor suppressor gene is a valuable marker of the disease progression in breast neoplasms. (PMID:12533266)
• Hepsin and maspin are inversely expressed in laser capture microdissectioned prostate cancer (PMID:12629351)
• results point to a major role of the maspin gene in estrogen receptor alpha positive breast cancer; maspin mRNA level can have important prognostic significance in human breast cancer (PMID:12644823)
• There were three splicing variants in NASG 3’UTR. Its abnormal expression may be an important molecular event in NPC and lung cancer. (PMID:12753703)
• The expression of maspin in epithelial cells could be up-regulated during the progression of ductal carcinoma, and could be correlated with the acquisition of an aggressive phenotype. (PMID:12786889)
• Gene-profiling experiments of breast cancer cells infected with wt p53 revealed both MASPIN and desmocollin 3 (DSC3) to be p53-target genes, even though both genes are silenced in association with aberrant cytosine methylation of their promoters (PMID:12789271)
• findings show that the reactive site loop of maspin is required and sufficient to induce cell-extracellular matrix adhesion in two different cell types and for the inhibition of invasion of carcinoma cells (PMID:12799381)
• methylation of the maspin gene promoter is a common, a likely, and an early event during the development of papillary thyroid carcinomas (PMID:12964023)
• Up-regulation of maspin is associated with pancreatic ductal adenocarcinomas (PMID:12969792)
• maspin protein expression is a special feature in the cascade of papillary thyroid carcinoma genesis and the way of initiating PTC is different from other thyroid carcinoma types (PMID:14532972)
• maspin protein possibly functions as a clinically relevant inhibitor of tumor progression, preventing local invasiveness and further systemic progression of papillary thyroid carcinomas (PMID:14534696)
• demethylation at the maspin gene promoter disrupts the cell-type-specific gene repression in both gastric normal epithelia and gastric cancer (PMID:14578190)
• human pancreatic carcinoma cells acquire maspin expression through epigenetic derepression of the maspin locus (PMID:14670180)
• Maspin is identified as a novel DNA hypomethylation target in pancreatic neoplasms. (PMID:14716296)
• maspin may contribute to bladder cancer development; DNA methylation and histone deacetylation may be important for regulating maspin gene activation in bladder cancer cells (PMID:14732229)
• Disruption of cell-type-specific methylation of the maspin gene promoter is frequently involved in undifferentiated thyroid cancers. (PMID:14743202)
• Reduced expression of maspin contributes to progression of gastric cancer probably by inhibiting cell adhesion, enhancing cell mobility, decreasing cell apoptosis and facilitating angiogenesis. (PMID:14991928)
• Maspin expression is directly associated with the biological aggressiveness of thyroid carcinoma. (PMID:15009909)
• tamoxifen induction of maspin involves the recruitment of cofactor(s) by ERalpha to the maspin promoter region (PMID:15145521)
• Our data indicate that maspin has prognostic significance for pulmonary adenocarcinoma. (PMID:15197584)
• Abberant methylation of the maspin promoter is an early event in human breast cancer. (PMID:15256060)
• there is no significant correlation between the expression of VEGF and Maspin in gastric carcinoma (PMID:15309707)
• analysis of the biological activities of maspin in tumor progression [review] (PMID:15353310)
• Loss of maspin expression is associated with development and progression of gastric carcinoma (PMID:15492782)
• the reactive center loop of maspin is exposed but constrained, as seen by x-ray crystallography (PMID:15501821)
• maspin tumor suppressor expression is induced by p53 or TAp63gamma (PMID:15578720)
• Aberrant maspin expression was frequently observed imunohistochemically in biliary tract carcinomas. (PMID:15608662)
• Maspin expression in non-small-cell lung cancer was an independent prognostic factor for overall survival. No correlation between maspin & p53 expression was seen in cancer cells. Increased maspin mRNA expression was seen in cancerous tissues from NSCLC. (PMID:15620951)
• Neovascular endothelial cells are highly sensitive to maspin level inside tumor cells. (PMID:15688005)
• maspin inhibits tumor progression through the mitochondrial apoptosis pathway. (PMID:15713631)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Serpinb5	ENSMUSG00000067006
rattus_norvegicus	Serpinb5	ENSRNOG00000002640

Paralogs (36): SERPINB1 (ENSG00000021355), SERPINB3 (ENSG00000057149), SERPIND1 (ENSG00000099937), SERPINA4 (ENSG00000100665), SERPINE1 (ENSG00000106366), SERPINI2 (ENSG00000114204), SERPINC1 (ENSG00000117601), SERPINA7 (ENSG00000123561), SERPINB6 (ENSG00000124570), SERPINF1 (ENSG00000132386), AGT (ENSG00000135744), SERPINE2 (ENSG00000135919), SERPINA10 (ENSG00000140093), SERPING1 (ENSG00000149131), SERPINH1 (ENSG00000149257), SERPINI1 (ENSG00000163536), SERPINA12 (ENSG00000165953), SERPINB7 (ENSG00000166396), SERPINB8 (ENSG00000166401), SERPINB12 (ENSG00000166634), SERPINF2 (ENSG00000167711), SERPINA9 (ENSG00000170054), SERPINA6 (ENSG00000170099), SERPINB9 (ENSG00000170542), SERPINA11 (ENSG00000186910), SERPINA5 (ENSG00000188488), SERPINA3 (ENSG00000196136), SERPINA1 (ENSG00000197249), SERPINB2 (ENSG00000197632), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)

Protein

Protein identifiers

Serpin B5 — P36952 (reviewed: P36952)

Alternative names: Maspin, Peptidase inhibitor 5

All UniProt accessions (2): P36952, C9JLM5

UniProt curated annotations — full annotation on UniProt →

Function. Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.

Subunit / interactions. Interacts with IRF6.

Subcellular location. Secreted. Extracellular space.

Tissue specificity. Normal mammary epithelial cells.

Similarity. Belongs to the serpin family. Ov-serpin subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P36952-1	1	yes
P36952-2	2

RefSeq proteins (1): NP_002630* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000215	Serpin_fam	Family
IPR000240	Serpin_B9/Maspin	Family
IPR023795	Serpin_CS	Conserved_site
IPR023796	Serpin_dom	Domain
IPR033836	SERPINB5_serpin_dom	Domain
IPR036186	Serpin_sf	Homologous_superfamily
IPR042178	Serpin_sf_1	Homologous_superfamily
IPR042185	Serpin_sf_2	Homologous_superfamily

Pfam: PF00079

UniProt features (53 total): strand 15, helix 14, turn 11, glycosylation site 4, sequence variant 3, sequence conflict 2, splice variant 2, chain 1, site 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
1WZ9	X-RAY DIFFRACTION	2.1
1XU8	X-RAY DIFFRACTION	2.8
1XQG	X-RAY DIFFRACTION	3.1
1XQJ	X-RAY DIFFRACTION	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P36952-F1	95.31	0.94

Functional residue map

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

Catalytic / active sites (1): 340–341 (reactive bond homolog)

Glycosylation sites (4): 99, 133, 188, 361

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 170 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, AGGAAGC_MIR5163P, AP1_01, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_GLAND_MORPHOGENESIS, GOBP_PROSTATE_GLAND_MORPHOGENESIS, DORN_ADENOVIRUS_INFECTION_12HR_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOCC_CELL_SURFACE, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GGGTGGRR_PAX4_03, CHANDRAN_METASTASIS_DN, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT

GO Biological Process (4): morphogenesis of an epithelium (GO:0002009), extracellular matrix organization (GO:0030198), regulation of epithelial cell proliferation (GO:0050678), prostate gland morphogenesis (GO:0060512)

GO Molecular Function (2): serine-type endopeptidase inhibitor activity (GO:0004867), protein binding (GO:0005515)

GO Cellular Component (5): cornified envelope (GO:0001533), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), sarcoplasm (GO:0016528), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
tissue morphogenesis	1
epithelium development	1
extracellular structure organization	1
external encapsulating structure organization	1
regulation of cell population proliferation	1
epithelial cell proliferation	1
developmental process involved in reproduction	1
gland morphogenesis	1
prostate gland development	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
binding	1
plasma membrane	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1792 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SERPINB5	TP53	P04637	706
SERPINB5	SFN	P31947	657
SERPINB5	PLG	P00747	629
SERPINB5	CHUK	O15111	598
SERPINB5	HDAC1	Q13547	598
SERPINB5	PYHIN1	Q6K0P9	585
SERPINB5	CEACAM5	P06731	584
SERPINB5	TPM1	P09493	575
SERPINB5	PDCD4	Q53EL6	574
SERPINB5	PI3	P19957	571
SERPINB5	IRF6	O14896	561
SERPINB5	TNFSF11	O14788	519
SERPINB5	SCIN	Q9Y6U3	478
SERPINB5	KHDRBS3	O75525	475
SERPINB5	PTEN	P60484	471

IntAct

122 interactions, top by confidence:

A	B	Type	Score
KIF3A	KIF3C	psi-mi:“MI:0914”(association)	0.730
JADE1	KAT7	psi-mi:“MI:0914”(association)	0.720
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
AP3M1	AP3B1	psi-mi:“MI:0914”(association)	0.640
SERPINB5	PRSS21	psi-mi:“MI:0915”(physical association)	0.640
PRSS21	SERPINB5	psi-mi:“MI:0915”(physical association)	0.640
SERPINB5	PRSS21	psi-mi:“MI:0407”(direct interaction)	0.640
PRSS21	SERPINB5	psi-mi:“MI:0403”(colocalization)	0.640
STK11	SERPINB5	psi-mi:“MI:0915”(physical association)	0.550
FRMD1	A2ML1	psi-mi:“MI:0914”(association)	0.530
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
RBM24	PPL	psi-mi:“MI:0914”(association)	0.530
KIR3DS1	PPL	psi-mi:“MI:0914”(association)	0.530
GDF5	SERPINB7	psi-mi:“MI:0914”(association)	0.530
CPLX3	CIAO1	psi-mi:“MI:0914”(association)	0.530
SYT16	DUSP14	psi-mi:“MI:0914”(association)	0.530
LACC1	DUSP14	psi-mi:“MI:0914”(association)	0.530
FBXL4	DUSP14	psi-mi:“MI:0914”(association)	0.530
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
ACAD9	PPL	psi-mi:“MI:0914”(association)	0.530
MRPL38	DUSP14	psi-mi:“MI:0914”(association)	0.530

BioGRID (218): HDGFRP2 (Affinity Capture-MS), PLS1 (Affinity Capture-MS), SF3A1 (Affinity Capture-MS), HDLBP (Affinity Capture-MS), EIF2S2 (Affinity Capture-MS), RAP1BL (Affinity Capture-MS), ZC3H11A (Affinity Capture-MS), ALDH2 (Affinity Capture-MS), NARS (Affinity Capture-MS), ZRANB2 (Affinity Capture-MS), DDX46 (Affinity Capture-MS), EIF2A (Affinity Capture-MS), UBA6 (Affinity Capture-MS), VRK1 (Affinity Capture-MS), RHOA (Affinity Capture-MS)

ESM2 similar proteins: A0A090BX51, A2I7M9, A2I7N0, A2I7N2, A5PJK0, A9RA96, B0CMB0, B1MTB7, B1MTC3, B2KI30, B3RFC3, B4USX2, E2RVI8, O08800, O73790, O73860, O75635, P01012, P01013, P01014, P05120, P05544, P09006, P12388, P19104, P29508, P29524, P36952, P48594, P48595, P70124, P70458, P70564, Q03044, Q52L45, Q5I0S8, Q5M8J5, Q5SV42, Q6GLQ1, Q6V115

Diamond homologs: A0A090BX51, A0A0K8RCY5, A0A0K8RJ89, A0A0K8RJV9, A5PJK0, A9RA96, B0CMB0, B1MTB7, B1MTC3, B2KI30, B3RFC3, B4USX2, E2RVI8, O02739, O08800, O35684, O54757, O54758, O54759, O54760, O73790, O73860, O75635, O75830, P01008, P01011, P01012, P01014, P05120, P05619, P12388, P17475, P19104, P22323, P22325, P22922, P23035, P29508, P29524, P30740

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
E2F1	“up-regulates quantity by expression”	SERPINB5	“transcriptional regulation”
HDAC1	“down-regulates quantity by repression”	SERPINB5	“transcriptional regulation”
AR	“down-regulates quantity by repression”	SERPINB5	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

780 predictions. Top by Δscore:

Variant	Effect	Δscore
18:63484413:T:TA	acceptor_gain	1.0000
18:63484420:A:AG	acceptor_gain	1.0000
18:63484420:AG:A	acceptor_gain	1.0000
18:63484421:G:GT	acceptor_gain	1.0000
18:63484421:GG:G	acceptor_gain	1.0000
18:63484421:GGC:G	acceptor_gain	1.0000
18:63484421:GGCC:G	acceptor_gain	1.0000
18:63484421:GGCCC:G	acceptor_gain	1.0000
18:63484596:GGT:G	donor_loss	1.0000
18:63484597:G:A	donor_loss	1.0000
18:63484598:T:A	donor_loss	1.0000
18:63486940:TAACA:T	acceptor_loss	1.0000
18:63486941:AACAG:A	acceptor_loss	1.0000
18:63486942:ACAG:A	acceptor_loss	1.0000
18:63486943:CAGG:C	acceptor_loss	1.0000
18:63486944:A:AC	acceptor_loss	1.0000
18:63486945:G:C	acceptor_loss	1.0000
18:63487084:G:GG	donor_gain	1.0000
18:63489336:AT:A	acceptor_gain	1.0000
18:63489337:T:G	acceptor_gain	1.0000
18:63489342:TTCA:T	acceptor_loss	1.0000
18:63489344:CAGG:C	acceptor_gain	1.0000
18:63489345:A:AG	acceptor_gain	1.0000
18:63489345:AG:A	acceptor_gain	1.0000
18:63489345:AGGA:A	acceptor_gain	1.0000
18:63489346:G:GT	acceptor_gain	1.0000
18:63489346:GG:G	acceptor_gain	1.0000
18:63489346:GGA:G	acceptor_gain	1.0000
18:63489346:GGAG:G	acceptor_gain	1.0000
18:63489346:GGAGT:G	acceptor_gain	1.0000

AlphaMissense

2509 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:63493039:T:A	W171R	0.996
18:63493039:T:C	W171R	0.996
18:63493081:T:C	F185L	0.996
18:63493083:C:A	F185L	0.996
18:63493083:C:G	F185L	0.996
18:63493051:T:C	F175L	0.994
18:63493053:T:A	F175L	0.994
18:63493053:T:G	F175L	0.994
18:63493082:T:C	F185S	0.994
18:63503654:T:C	F354L	0.994
18:63503656:T:A	F354L	0.994
18:63503656:T:G	F354L	0.994
18:63499208:T:C	L219P	0.993
18:63493041:G:C	W171C	0.992
18:63493041:G:T	W171C	0.992
18:63484472:T:C	L15P	0.991
18:63493082:T:G	F185C	0.990
18:63503366:T:A	W258R	0.990
18:63503366:T:C	W258R	0.990
18:63503703:G:A	G370D	0.988
18:63489350:T:C	F104L	0.987
18:63489352:C:A	F104L	0.987
18:63489352:C:G	F104L	0.987
18:63503415:C:A	P274Q	0.987
18:63484564:G:C	A46P	0.985
18:63493007:T:C	L160P	0.985
18:63484544:T:C	L39P	0.984
18:63499145:T:C	M198T	0.984
18:63493052:T:C	F175S	0.983
18:63499229:T:C	L226P	0.983

dbSNP variants (sampled 300 via entrez): RS1000046856 (18:63496530 T>C), RS1000147541 (18:63487356 A>G), RS1000158872 (18:63487693 G>A), RS1000164703 (18:63479530 G>A,C), RS1000259247 (18:63481220 T>C), RS1000284552 (18:63502890 G>A), RS1000420204 (18:63481393 A>C), RS1000559333 (18:63490221 G>A), RS1000726081 (18:63492603 T>C), RS1000844644 (18:63498847 G>A), RS1000858509 (18:63490447 C>T), RS1000904656 (18:63478223 T>C), RS1001076483 (18:63492190 C>A,T), RS1001119500 (18:63489145 A>G), RS1001240833 (18:63482249 A>G)

Disease associations

OMIM: gene MIM:154790 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002177_5	Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005260	response to antimicrotubule agent

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	5
Estradiol	increases activity, affects cotreatment, decreases expression, increases expression	5
bisphenol A	increases methylation, decreases expression, increases activity, increases expression	4
Fluorouracil	affects cotreatment, decreases expression, increases expression, increases response to substance, affects reaction (+1 more)	4
Decitabine	affects expression, affects cotreatment, decreases methylation, increases expression	3
Tobacco Smoke Pollution	decreases expression, increases expression, affects expression	3
methylselenic acid	affects expression, increases expression	2
Arsenic	increases expression, decreases expression, increases abundance	2
Curcumin	increases expression, decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Valproic Acid	increases expression, increases methylation	2
2-phenylphenol	affects binding	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization, increases expression	1
trichostatin A	decreases methylation, affects cotreatment	1
pyriminil	affects binding	1
beta-lapachone	increases expression	1
o,p’-DDT	increases expression	1
sulindac sulfide	decreases expression	1
4-hydroxy-2-nonenal	decreases expression	1
cupric chloride	increases expression	1
quinoline	increases expression	1
epigallocatechin gallate	increases expression	1
microcystin RR	decreases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	affects expression	1
adefovir dipivoxil	increases expression	1
tanespimycin	increases expression	1
monomethylarsonous acid	increases expression	1
procyanidin B2	increases expression	1
nutlin 3	affects cotreatment, 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_B2F1	Abcam HeLa SERPINB5 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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