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TSPAN32

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Summary

TSPAN32 (tetraspanin 32, HGNC:13410) is a protein-coding gene on chromosome 11p15.5, encoding Tetraspanin-32 (Q96QS1).

This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Source: NCBI Gene 10077 — RefSeq curated summary.

At a glance

  • GWAS associations: 20
  • Clinical variants (ClinVar): 61 total
  • MANE Select transcript: NM_139022

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13410
Approved symbolTSPAN32
Nametetraspanin 32
Location11p15.5
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000064201
Ensembl biotypeprotein_coding
OMIM603853
Entrez10077

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 8 protein_coding, 5 retained_intron, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000182290, ENST00000339046, ENST00000381117, ENST00000381121, ENST00000437313, ENST00000446063, ENST00000451520, ENST00000461200, ENST00000479508, ENST00000483227, ENST00000484104, ENST00000484523, ENST00000486011, ENST00000493924, ENST00000493948, ENST00000498313, ENST00000612299, ENST00000855795, ENST00000855796, ENST00000961152

RefSeq mRNA: 1 — MANE Select: NM_139022 NM_139022

CCDS: CCDS7733

Canonical transcript exons

ENST00000182290 — 10 exons

ExonStartEnd
ENSE0000000030523178632318204
ENSE0000346224623173442317525
ENSE0000348086223165762316667
ENSE0000348431723087362308810
ENSE0000348899423028442302958
ENSE0000351573823041072304204
ENSE0000352309123136542313755
ENSE0000356071123144852314571
ENSE0000363943223162292316312
ENSE0000389945923020132302215

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 98.56.

FANTOM5 (CAGE): breadth broad, TPM avg 3.0892 / max 201.6748, expressed in 326 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1126771.6206245
1126761.1788163
1126790.272385
1126780.01768

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
granulocyteCL:000009498.56gold quality
apex of heartUBERON:000209895.62gold quality
monocyteCL:000057693.82gold quality
mononuclear cellCL:000084293.54gold quality
leukocyteCL:000073893.49gold quality
bloodUBERON:000017889.98gold quality
spleenUBERON:000210686.42gold quality
bone marrow cellCL:000209285.32gold quality
bone marrowUBERON:000237185.27gold quality
heart left ventricleUBERON:000208485.11gold quality
cardiac ventricleUBERON:000208284.81gold quality
right atrium auricular regionUBERON:000663184.46gold quality
lymph nodeUBERON:000002982.69gold quality
cardiac atriumUBERON:000208181.89gold quality
triceps brachiiUBERON:000150981.82gold quality
gluteal muscleUBERON:000200081.41gold quality
heartUBERON:000094881.36gold quality
trabecular bone tissueUBERON:000248380.48silver quality
upper lobe of left lungUBERON:000895278.34gold quality
vermiform appendixUBERON:000115478.08gold quality
gall bladderUBERON:000211077.04gold quality
right lungUBERON:000216776.88gold quality
upper lobe of lungUBERON:000894876.87gold quality
tibialis anteriorUBERON:000138574.92silver quality
parotid glandUBERON:000183174.82gold quality
body of uterusUBERON:000985374.79gold quality
caecumUBERON:000115374.75gold quality
mucosa of stomachUBERON:000119973.37gold quality
right coronary arteryUBERON:000162573.18gold quality
colonic epitheliumUBERON:000039773.17gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-CURD-112yes35.80
E-HCAD-10yes16.15
E-MTAB-9067yes11.69
E-ANND-3yes4.44

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

  • In the absence of both CD37 and Tssc6, immune function is further altered when compared with CD37- or Tssc6-deficient transgenic mice, demonstrating a complementary role for these two molecules in cellular immunity. (PMID:20709950)
  • TSPAN32 mRNA level is significantly reduced in CD4 T cells of multiple sclerosis patients. (PMID:31487788)
  • Altered Expression of TSPAN32 during B Cell Activation and Systemic Lupus Erythematosus. (PMID:34207245)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusTspan32ENSMUSG00000000244
rattus_norvegicusTspan32ENSRNOG00000026039

Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)

Protein

Protein identifiers

Tetraspanin-32 — Q96QS1 (reviewed: Q96QS1)

Alternative names: Protein Phemx

All UniProt accessions (5): Q96QS1, D3YTD1, F8WB10, F8WCN6, G3XAG6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Expressed ubiquitously at low levels. High levels of expression are confined to hematopoietic tissues including peripheral blood leukocytes, thymus and spleen.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the tetraspanin (TM4SF) family.

Isoforms (5)

UniProt IDNamesCanonical?
Q96QS1-11yes
Q96QS1-22
Q96QS1-33
Q96QS1-44
Q96QS1-55

RefSeq proteins (1): NP_620591* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR008952Tetraspanin_EC2_sfHomologous_superfamily
IPR018499Tetraspanin/PeripherinFamily
IPR042782PHEMX_LELDomain

Pfam: PF00335

UniProt features (12 total): splice variant 7, transmembrane region 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96QS1-F172.740.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 241 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_PLATELET_ACTIVATION, GOCC_CELL_SURFACE, GOBP_CELL_CELL_SIGNALING, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_MYELOID_LEUKOCYTE_ACTIVATION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RESPONSE_TO_PROTOZOAN, GATA6_01

GO Biological Process (14): cytoskeleton organization (GO:0007010), integrin-mediated signaling pathway (GO:0007229), cell-cell signaling (GO:0007267), negative regulation of myeloid dendritic cell activation (GO:0030886), T cell proliferation (GO:0042098), negative regulation of T cell proliferation (GO:0042130), defense response to protozoan (GO:0042832), regulation of defense response to virus (GO:0050688), platelet aggregation (GO:0070527), regulation of vascular endothelial growth factor signaling pathway (GO:1900746), cell communication (GO:0007154), blood coagulation (GO:0007596), hemostasis (GO:0007599), signaling (GO:0023052)

GO Molecular Function (0):

GO Cellular Component (4): plasma membrane (GO:0005886), cell surface (GO:0009986), integrin alphaIIb-beta3 complex (GO:0070442), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
organelle organization1
cell surface receptor signaling pathway1
cell communication1
signaling1
myeloid dendritic cell activation1
negative regulation of leukocyte activation1
regulation of myeloid dendritic cell activation1
T cell activation1
lymphocyte proliferation1
T cell proliferation1
regulation of T cell proliferation1
negative regulation of lymphocyte proliferation1
negative regulation of T cell activation1
response to protozoan1
defense response to other organism1
regulation of response to biotic stimulus1
regulation of defense response1
regulation of response to external stimulus1
defense response to virus1
platelet activation1
homotypic cell-cell adhesion1
regulation of signal transduction1
vascular endothelial growth factor signaling pathway1
regulation of cellular response to vascular endothelial growth factor stimulus1
cellular process1
hemostasis1
wound healing1
coagulation1
regulation of body fluid levels1
regulation of biological process1
membrane1
cell periphery1
integrin complex1

Protein interactions and networks

STRING

988 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TSPAN32TSSC4Q9Y5U2927
TSPAN32CD63P08962800
TSPAN32CD151P48509799
TSPAN32CD9P21926790
TSPAN32PHLDA2Q53GA4739
TSPAN32C11orf21Q9P2W6720
TSPAN32TSPAN9O75954715
TSPAN32CD81P18582704
TSPAN32SLC67A1Q96BI1669
TSPAN32B4E171B4E171667
TSPAN32CD37P11049630
TSPAN32ASCL2Q99929628
TSPAN32CD2P06729598
TSPAN32TSPAN7P41732582
TSPAN32CD53P19397577

IntAct

0 interactions, top by confidence:

BioGRID (1): TSPAN32 (Positive Genetic)

ESM2 similar proteins: A5D8T8, A6QLH5, E9PZ19, O18796, O43414, O60242, O70512, O75462, O75900, O88272, O88507, O88676, O95633, P08887, P0C7M8, P0C7M9, P26992, P39905, P78539, Q08334, Q08406, Q0V881, Q0ZCA7, Q1LZB9, Q2HJ53, Q2KIS7, Q2TBM7, Q4V892, Q5SQ64, Q62225, Q63769, Q642A6, Q6IA17, Q6P1D5, Q6PCB0, Q6UXF7, Q71DR4, Q7TPB4, Q7TSQ1, Q80ZF8

Diamond homologs: Q96QS1, Q9JHH2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance49
Likely benign4
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1899 predictions. Top by Δscore:

VariantEffectΔscore
11:2302954:ATGGG:Adonor_gain1.0000
11:2302956:GGG:Gdonor_gain1.0000
11:2302957:GG:Gdonor_gain1.0000
11:2302957:GGG:Gdonor_gain1.0000
11:2302958:GG:Gdonor_gain1.0000
11:2302959:G:GGdonor_gain1.0000
11:2304202:GGG:Gdonor_gain1.0000
11:2304203:GGG:Gdonor_gain1.0000
11:2302842:A:AGacceptor_gain0.9900
11:2302843:G:GGacceptor_gain0.9900
11:2302843:GCT:Gacceptor_gain0.9900
11:2302955:TGGG:Tdonor_gain0.9900
11:2302956:GGGG:Gdonor_gain0.9900
11:2304105:A:AGacceptor_gain0.9900
11:2304106:G:GGacceptor_gain0.9900
11:2313648:GTGCA:Gacceptor_loss0.9900
11:2313650:GCAGG:Gacceptor_loss0.9900
11:2313651:CAGGT:Cacceptor_loss0.9900
11:2313652:AGGT:Aacceptor_gain0.9900
11:2313653:GGTG:Gacceptor_gain0.9900
11:2313750:G:GTdonor_gain0.9900
11:2314483:A:AGacceptor_gain0.9900
11:2314484:G:GAacceptor_gain0.9900
11:2314551:G:GTdonor_gain0.9900
11:2302066:G:GGdonor_gain0.9800
11:2302108:G:GTdonor_gain0.9800
11:2304101:A:AGacceptor_gain0.9800
11:2304203:GG:Gdonor_gain0.9800
11:2304204:GG:Gdonor_gain0.9800
11:2313652:A:AGacceptor_gain0.9800

AlphaMissense

2057 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:2304160:A:CS79R0.978
11:2304162:C:AS79R0.978
11:2304162:C:GS79R0.978
11:2316594:A:CS216R0.976
11:2316596:C:AS216R0.976
11:2316596:C:GS216R0.976
11:2308745:T:CC97R0.974
11:2314502:G:CK158N0.971
11:2314502:G:TK158N0.971
11:2304148:G:AG75R0.967
11:2304148:G:CG75R0.967
11:2316234:C:GC183W0.967
11:2313678:T:GY127D0.966
11:2308739:T:CF95L0.964
11:2308741:C:AF95L0.964
11:2308741:C:GF95L0.964
11:2302182:A:CK11N0.963
11:2302182:A:TK11N0.963
11:2314491:T:CC155R0.961
11:2314491:T:AC155S0.959
11:2314492:G:CC155S0.959
11:2316233:G:AC183Y0.959
11:2302850:G:CG25R0.955
11:2314485:T:CF153L0.953
11:2314487:T:AF153L0.953
11:2314487:T:GF153L0.953
11:2304124:A:CS67R0.952
11:2304126:C:AS67R0.952
11:2304126:C:GS67R0.952
11:2316232:T:CC183R0.952

dbSNP variants (sampled 300 via entrez): RS1000061442 (11:2309549 G>C), RS1000126797 (11:2313864 G>A,T), RS1000249125 (11:2318351 G>C), RS1000318598 (11:2304502 T>G), RS1000503694 (11:2300430 TG>T), RS1000574413 (11:2312954 T>C), RS1000709913 (11:2305203 C>A,T), RS1001214626 (11:2309094 C>A,G,T), RS1001574590 (11:2317824 T>C,G), RS1001905291 (11:2311836 C>T), RS1001908658 (11:2316832 G>A), RS1002630857 (11:2307256 A>C), RS1002788528 (11:2306137 C>G), RS1002825660 (11:2303237 C>A,T), RS1002836093 (11:2304174 C>A,T)

Disease associations

OMIM: gene MIM:603853 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

StudyTraitp-value
GCST002073_2Chronic lymphocytic leukemia2.000000e-10
GCST002299_14Chronic lymphocytic leukemia3.000000e-06
GCST004146_15Chronic lymphocytic leukemia5.000000e-11
GCST009131_17Systemic sclerosis3.000000e-10
GCST009181_12Cuneus cortex volume6.000000e-06
GCST009196_5Pericalcarine cortex volume1.000000e-06
GCST010083_113Hemoglobin levels2.000000e-08
GCST010725_20Malaria4.000000e-69
GCST010725_33Malaria2.000000e-67
GCST010725_51Malaria1.000000e-55
GCST012277_3Clostridioides difficle infection3.000000e-07
GCST90002384_277Hemoglobin3.000000e-10
GCST90002389_459Lymphocyte percentage of white cells5.000000e-12
GCST90002391_194Mean corpuscular hemoglobin concentration5.000000e-11
GCST90002393_348Monocyte count1.000000e-11
GCST90002394_463Monocyte percentage of white cells3.000000e-11
GCST90002396_450Mean reticulocyte volume2.000000e-16
GCST90002398_191Neutrophil count8.000000e-11
GCST90002404_503Red cell distribution width1.000000e-11
GCST90002405_270Reticulocyte count1.000000e-11

EFO canonical traits (10, from GWAS)

EFO IDTrait name
EFO:0004509hemoglobin measurement
EFO:0009130clostridium difficile infection
EFO:0007993lymphocyte percentage of leukocytes
EFO:0004528mean corpuscular hemoglobin concentration
EFO:0005091monocyte count
EFO:0007989monocyte percentage of leukocytes
EFO:0010701mean reticulocyte volume
EFO:0004833neutrophil count
EFO:0009188Red cell distribution width
EFO:0007986reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compounddecreases expression2
GSK-J4decreases expression1
mivebresibdecreases expression1
beta-lapachonedecreases expression1
sodium arseniteaffects methylation1
cobaltous chloridedecreases expression1
di-n-butylphosphoric acidaffects expression1
Acetaminophenincreases expression1
Azacitidinedecreases expression1
Benzo(a)pyrenedecreases methylation, increases methylation1
Triclosandecreases expression1
Valproic Acidincreases methylation1
Antirheumatic Agentsdecreases expression1

Clinical trials (associated diseases)

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

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot