TEX36

gene
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Also known as bA383C5.1

Summary

TEX36 (testis expressed 36, HGNC:31653) is a protein-coding gene on chromosome 10q26.13, encoding Testis-expressed protein 36 (Q5VZQ5).

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 16 total
  • MANE Select transcript: NM_001128202

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:31653
Approved symbolTEX36
Nametestis expressed 36
Location10q26.13
Locus typegene with protein product
StatusApproved
AliasesbA383C5.1
Ensembl geneENSG00000175018
Ensembl biotypeprotein_coding
Entrez387718

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000368821, ENST00000526819, ENST00000532135

RefSeq mRNA: 2 — MANE Select: NM_001128202 NM_001128202, NM_001318133

CCDS: CCDS44493, CCDS81521

Canonical transcript exons

ENST00000368821 — 4 exons

ExonStartEnd
ENSE00001099740125661021125661101
ENSE00001099746125661846125661977
ENSE00001448026125655694125656196
ENSE00001448029125682939125683163

Expression profiles

Bgee: expression breadth broad, 30 present calls, max score 84.24.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0259 / max 20.2988, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1118900.01693
1118910.00903

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
left testisUBERON:000453384.24gold quality
right testisUBERON:000453482.95gold quality
testisUBERON:000047381.64gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.37silver quality
spermCL:000001970.62silver quality
ileal mucosaUBERON:000033163.20silver quality
adult organismUBERON:000702356.20gold quality
endothelial cellCL:000011554.41gold quality
cardiac muscle of right atriumUBERON:000337954.34gold quality
left ventricle myocardiumUBERON:000656654.23gold quality
kidney epitheliumUBERON:000481953.93gold quality
epithelial cell of pancreasCL:000008353.52gold quality
upper arm skinUBERON:000426353.52gold quality
tibialis anteriorUBERON:000138551.82silver quality
deltoidUBERON:000147651.32gold quality
pancreatic ductal cellCL:000207950.73silver quality
myocardiumUBERON:000234950.25gold quality
nasal cavity epitheliumUBERON:000538447.03gold quality
quadriceps femorisUBERON:000137746.98gold quality
buccal mucosa cellCL:000233646.47gold quality
sural nerveUBERON:001548846.43gold quality
smooth muscle tissueUBERON:000113545.83gold quality
vastus lateralisUBERON:000137945.40gold quality
layer of synovial tissueUBERON:000761643.55gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451143.37gold quality
muscle tissueUBERON:000238543.22gold quality
endocervixUBERON:000045842.92gold quality
substantia nigra pars reticulataUBERON:000196642.92gold quality
secondary oocyteCL:000065542.57gold quality
subthalamic nucleusUBERON:000190641.83gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes2.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting TEX36, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-548N99.9871.944170
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-471999.7372.103329
HSA-MIR-450299.6566.991021
HSA-MIR-651-5P99.6468.491104
HSA-MIR-548AV-5P99.6070.842107
HSA-MIR-548K99.6070.842107
HSA-MIR-805499.4870.812084
HSA-MIR-664A-3P99.2271.082696
HSA-MIR-654-3P98.3867.61905
HSA-MIR-126598.3666.46598
HSA-MIR-445798.0967.121274
HSA-MIR-4529-5P96.7465.77569
HSA-MIR-125B-2-3P96.6968.381210
HSA-MIR-7108-5P96.4266.17598

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusTex36ENSMUSG00000030976
rattus_norvegicusTex36ENSRNOG00000026848

Protein

Protein identifiers

Testis-expressed protein 36Q5VZQ5 (reviewed: Q5VZQ5)

All UniProt accessions (3): E9PJL2, E9PR91, Q5VZQ5

RefSeq proteins (2): NP_001121674, NP_001305062 (=MANE)

Domains & families (InterPro)

IDNameType
IPR029369HDNRDomain

Pfam: PF15115

UniProt features (4 total): chain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5VZQ5-F160.880.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): RAO_BOUND_BY_SALL4_ISOFORM_B, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, MIR548N, MIR4700_5P, MIR4667_5P, MIR8089, MIR4457, MIR7108_5P, GSE13485_DAY1_VS_DAY21_YF17D_VACCINE_PBMC_UP, LAKE_ADULT_KIDNEY_C5_PROXIMAL_TUBULE_EPITHELIAL_CELLS_STRESS_INFLAM, GSE7460_CTRL_VS_FOXP3_OVEREXPR_TCONV_1_UP, GSE1740_MCSF_VS_MCSF_AND_IFNG_DAY2_DERIVED_MACROPHAGE_WITH_IFNA_STIM_DN, GSE1740_MCSF_VS_MCSF_AND_IFNG_DAY2_DERIVED_MACROPHAGE_UP, GSE1791_CTRL_VS_NEUROMEDINU_IN_T_CELL_LINE_0.8H_DN, GSE4142_PLASMA_CELL_VS_GC_BCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

222 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TEX36STPG3Q8N7X2738
TEX36SLFNL1Q499Z3666
TEX36SPMIP9Q96LM6624
TEX36GLT6D1Q7Z4J2618
TEX36TESK2Q96S53572
TEX36SPPL2CQ8IUH8545
TEX36ZNF222Q9UK12510
TEX36TEX13CA0A0J9YWL9495
TEX36EDRF1Q3B7T1476
TEX36PRSS58Q8IYP2474
TEX36DMRTB1Q96MA1425
TEX36TEX13DA0A0J9YY54413
TEX36ABRAXAS2Q15018398
TEX36UPP1Q16831396
TEX36TEX13AQ9BXU3392

IntAct

3 interactions, top by confidence:

ABTypeScore
TEX36EFCAB2psi-mi:“MI:0915”(physical association)0.400
TEX36PPP1CCpsi-mi:“MI:0915”(physical association)0.370

BioGRID (3): TEX36 (Affinity Capture-MS), EFCAB2 (Affinity Capture-MS), TEX36 (Two-hybrid)

ESM2 similar proteins: A0A1B0GTD5, A0A1B0GUX0, A0A3Q1MT14, A4D263, A6NL82, A6QQL5, A8QW39, B0UXH9, B5X5D0, B9EJX3, E1B9R1, F1MMV1, Q148A4, Q1JPL0, Q2T9T0, Q32KQ1, Q32L72, Q32L77, Q32P67, Q3V0J4, Q5BN46, Q5NC57, Q5NC83, Q5SPV6, Q5SS90, Q5SVJ3, Q5VTT2, Q5VZQ5, Q66HC0, Q66HR9, Q6AYM0, Q6NXP0, Q6P3G4, Q6ZVS7, Q80X60, Q8CDT5, Q8CDU5, Q8N5S3, Q8N7U6, Q8N865

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance13
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

501 predictions. Top by Δscore:

VariantEffectΔscore
10:125661012:AATAC:Adonor_loss1.0000
10:125661013:ATACT:Adonor_loss1.0000
10:125661014:TACTC:Tdonor_loss1.0000
10:125661015:AC:Adonor_loss1.0000
10:125661016:C:CAdonor_loss1.0000
10:125661017:T:TCdonor_loss1.0000
10:125661018:CACGG:Cdonor_loss1.0000
10:125661019:A:ACdonor_gain1.0000
10:125661019:A:Tdonor_loss1.0000
10:125661020:C:CAdonor_gain1.0000
10:125661020:CG:Cdonor_gain1.0000
10:125661020:CGG:Cdonor_gain1.0000
10:125661020:CGGA:Cdonor_gain1.0000
10:125661020:CGGAG:Cdonor_gain1.0000
10:125661098:CTTG:Cacceptor_gain1.0000
10:125661099:TTG:Tacceptor_gain1.0000
10:125661100:TG:Tacceptor_gain1.0000
10:125661102:C:CCacceptor_gain1.0000
10:125661102:CTG:Cacceptor_loss1.0000
10:125661110:G:Cacceptor_gain1.0000
10:125661110:G:GCacceptor_gain1.0000
10:125661115:A:ACacceptor_gain1.0000
10:125661115:A:Cacceptor_gain1.0000
10:125661841:CTCA:Cdonor_loss1.0000
10:125661842:TCA:Tdonor_loss1.0000
10:125661843:CA:Cdonor_loss1.0000
10:125661844:A:Cdonor_loss1.0000
10:125661978:C:CCacceptor_gain1.0000
10:125660505:CAGT:Cdonor_gain0.9900
10:125660514:C:CTdonor_gain0.9900

AlphaMissense

1214 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:125656032:A:CF143L0.972
10:125656032:A:TF143L0.972
10:125656034:A:GF143L0.972
10:125661975:G:CF18L0.966
10:125661975:G:TF18L0.966
10:125661977:A:GF18L0.966
10:125661081:G:CF68L0.961
10:125661081:G:TF68L0.961
10:125661083:A:GF68L0.961
10:125682941:A:GW17R0.958
10:125682941:A:TW17R0.958
10:125661058:C:GR76P0.956
10:125661064:T:AD74V0.939
10:125661060:A:CN75K0.933
10:125661060:A:TN75K0.933
10:125656186:C:GR92P0.931
10:125661075:G:CF70L0.931
10:125661075:G:TF70L0.931
10:125661077:A:GF70L0.931
10:125656140:A:CF107L0.930
10:125656140:A:TF107L0.930
10:125656142:A:GF107L0.930
10:125661064:T:GD74A0.930
10:125682939:C:AW17C0.924
10:125682939:C:GW17C0.924
10:125656143:A:CN106K0.920
10:125656143:A:TN106K0.920
10:125661063:G:CD74E0.920
10:125661063:G:TD74E0.920
10:125661065:C:GD74H0.917

dbSNP variants (sampled 300 via entrez): RS1000005590 (10:125635228 A>G), RS1000019328 (10:125577995 G>A), RS1000059648 (10:125615840 A>G), RS1000088100 (10:125674895 C>T), RS1000109511 (10:125651327 C>A), RS1000110189 (10:125615993 C>A,T), RS1000117551 (10:125597327 C>T), RS1000123724 (10:125610178 G>C), RS1000175793 (10:125611201 A>G), RS1000194387 (10:125609006 G>GA), RS1000196754 (10:125647606 C>A,T), RS1000231964 (10:125665414 A>T), RS1000236371 (10:125650560 C>T), RS1000281214 (10:125640160 T>C,G), RS1000295115 (10:125605284 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST000765_9Non-alcoholic fatty liver disease histology (other)7.000000e-06
GCST007012_4Cerebrospinal fluid AB1-42 levels9.000000e-07
GCST90000047_213Age at first sexual intercourse2.000000e-10

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004670beta-amyloid 1-42 measurement
EFO:0009749age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneincreases methylation1
Leaddecreases expression1

Clinical trials (associated diseases)

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