TCERG1L

gene
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Also known as FLJ38950

Summary

TCERG1L (transcription elongation regulator 1 like, HGNC:23533) is a protein-coding gene on chromosome 10q26.3, encoding Transcription elongation regulator 1-like protein (Q5VWI1).

Predicted to enable RNA polymerase binding activity and transcription coregulator activity. Predicted to be active in nucleus.

Source: NCBI Gene 256536 — RefSeq curated summary.

At a glance

  • GWAS associations: 11
  • Clinical variants (ClinVar): 116 total — 1 pathogenic
  • MANE Select transcript: NM_174937

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23533
Approved symbolTCERG1L
Nametranscription elongation regulator 1 like
Location10q26.3
Locus typegene with protein product
StatusApproved
AliasesFLJ38950
Ensembl geneENSG00000176769
Ensembl biotypeprotein_coding
OMIM620498
Entrez256536

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000368642, ENST00000483040, ENST00000935680

RefSeq mRNA: 1 — MANE Select: NM_174937 NM_174937

CCDS: CCDS7662

Canonical transcript exons

ENST00000368642 — 12 exons

ExonStartEnd
ENSE00001295373131308211131308391
ENSE00001315997131260259131260444
ENSE00001328907131309153131309299
ENSE00001852482131311294131311721
ENSE00003542433131146506131146660
ENSE00003554952131116799131116934
ENSE00003569340131098306131098424
ENSE00003600673131166797131166885
ENSE00003600836131134379131134448
ENSE00003635298131163122131163210
ENSE00003663450131092391131093318
ENSE00003680050131104265131104354

Expression profiles

Bgee: expression breadth ubiquitous, 103 present calls, max score 82.39.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4448 / max 135.4559, expressed in 230 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1120531.1323210
1120510.122257
1120540.094755
1120520.085547
1120490.01023

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right lobe of thyroid glandUBERON:000111982.39gold quality
Brodmann (1909) area 23UBERON:001355479.36gold quality
left lobe of thyroid glandUBERON:000112078.62gold quality
middle temporal gyrusUBERON:000277178.33gold quality
thyroid glandUBERON:000204678.25gold quality
dorsolateral prefrontal cortexUBERON:000983475.77gold quality
prefrontal cortexUBERON:000045175.73gold quality
Brodmann (1909) area 9UBERON:001354075.61gold quality
right frontal lobeUBERON:000281075.00gold quality
anterior cingulate cortexUBERON:000983574.11gold quality
frontal cortexUBERON:000187073.96gold quality
primary visual cortexUBERON:000243673.89gold quality
neocortexUBERON:000195073.39gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099172.81gold quality
pancreatic ductal cellCL:000207972.75silver quality
cerebral cortexUBERON:000095671.38gold quality
cortical plateUBERON:000534371.04gold quality
islet of LangerhansUBERON:000000670.56gold quality
superior frontal gyrusUBERON:000266169.35gold quality
tibialis anteriorUBERON:000138567.33silver quality
occipital lobeUBERON:000202166.87gold quality
left ovaryUBERON:000211966.11gold quality
corpus epididymisUBERON:000435965.42gold quality
cauda epididymisUBERON:000436065.10gold quality
right hemisphere of cerebellumUBERON:001489063.76gold quality
hypothalamusUBERON:000189863.70gold quality
ovaryUBERON:000099263.32gold quality
cerebellar cortexUBERON:000212963.11gold quality
cerebellar hemisphereUBERON:000224563.06gold quality
cerebellumUBERON:000203762.70gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no3.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting TCERG1L, 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-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-5692A100.0074.406850
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-LET-7F-2-3P99.9870.982588
HSA-MIR-1185-1-3P99.9871.042593
HSA-MIR-1185-2-3P99.9871.042593
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-493-5P99.9672.472382
HSA-LET-7C-3P99.9573.422862
HSA-MIR-568099.9169.833421
HSA-MIR-7845-5P99.8864.88771
HSA-LET-7A-2-3P99.8770.531921
HSA-LET-7G-3P99.8570.431929
HSA-MIR-5010-3P99.8370.602357
HSA-MIR-44899.7972.372103
HSA-MIR-451799.7669.191867
HSA-MIR-3680-3P99.7572.513095
HSA-MIR-494-3P99.7071.452795
HSA-MIR-372-5P99.4169.112299
HSA-MIR-425199.4069.193363
HSA-MIR-127299.3468.79878
HSA-MIR-16-2-3P99.2970.601954
HSA-MIR-195-3P99.2970.611954
HSA-MIR-425499.1165.151315

Literature-anchored findings (GeneRIF, showing 1)

  • TCERG1L is associated with plasma adiponectin, a key modulator of obesity, inflammation, IR and diabetes. (PMID:22791750)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriotcerg1lENSDARG00000109963
mus_musculusTcerg1lENSMUSG00000091002
rattus_norvegicusTcerg1lENSRNOG00000016737

Paralogs (2): ARHGAP5 (ENSG00000100852), TCERG1 (ENSG00000113649)

Protein

Protein identifiers

Transcription elongation regulator 1-like proteinQ5VWI1 (reviewed: Q5VWI1)

All UniProt accessions (1): Q5VWI1

RefSeq proteins (1): NP_777597* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001202WW_domDomain
IPR002713FF_domainDomain
IPR036020WW_dom_sfHomologous_superfamily
IPR036517FF_domain_sfHomologous_superfamily
IPR045148TCRG1-likeFamily
IPR057565WW_TCRG1_3rdDomain

Pfam: PF01846, PF23517

UniProt features (18 total): compositionally biased region 5, domain 4, sequence variant 4, region of interest 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5VWI1-F159.130.23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 63 (showing top): ACTGCAG_MIR173P, TCF4_Q5, FREAC3_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, AACTTT_UNKNOWN, TGAGATT_MIR216, CTTTGTA_MIR524, TTTNNANAGCYR_UNKNOWN, AGCYRWTTC_UNKNOWN, YATGNWAAT_OCT_C, GOMF_RNA_POLYMERASE_BINDING, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, YRCCAKNNGNCGC_UNKNOWN

GO Biological Process (0):

GO Molecular Function (3): transcription coregulator activity (GO:0003712), RNA polymerase binding (GO:0070063), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transcription regulator activity1
enzyme binding1
binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1110 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TCERG1LTAFA5Q7Z5A7574
TCERG1LSCCPDHQ8NBX0524
TCERG1LTMEM132DQ14C87484
TCERG1LPLXND1Q9Y4D7456
TCERG1LLDB2O43679444
TCERG1LCHST8Q9H2A9437
TCERG1LDPYSL4O14531426
TCERG1LARHGEF10O15013425
TCERG1LGSTO2Q9H4Y5418
TCERG1LPROSER2Q86WR7413
TCERG1LOPCMLQ14982412
TCERG1LPOLR1DP0DPB6407
TCERG1LSGSM1Q2NKQ1405
TCERG1LZFPM2Q8WW38405
TCERG1LSYNJ2O15056398

IntAct

0 interactions, top by confidence:

BioGRID (3): TCERG1L (Co-fractionation), TCERG1L (Cross-Linking-MS (XL-MS)), TCERG1L (Affinity Capture-RNA)

ESM2 similar proteins: A5X7A0, A7XW16, F1N8V3, G5E5X0, O15055, O94993, P48031, P52951, P56645, Q00175, Q04891, Q08050, Q29RJ0, Q2MJB4, Q3B807, Q3UH66, Q3UWW6, Q5VWI1, Q5XHX9, Q63449, Q69ZH9, Q6A0A2, Q6U8D7, Q76I79, Q76IQ7, Q7T1K4, Q7Z3H4, Q80VX4, Q86V15, Q8C0C0, Q8C0Y1, Q8CH09, Q8IX01, Q8JIT7, Q8K3T2, Q8VIG0, Q8WNV5, Q8WYL5, Q91Z96, Q92615

Diamond homologs: B6EUA9, F4JCC1, O14776, O75400, Q3B807, Q5VWI1, Q6NWY9, Q80W14, Q8CGF7, Q9R1C7, P34600, O04425

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance97
Likely benign10
Benign1

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2671973GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1Pathogenic

SpliceAI

3669 predictions. Top by Δscore:

VariantEffectΔscore
10:131098422:TAT:Tacceptor_gain1.0000
10:131098425:C:CCacceptor_gain1.0000
10:131098426:T:Cacceptor_gain1.0000
10:131098426:T:TCacceptor_gain1.0000
10:131116797:AC:Adonor_gain1.0000
10:131116797:ACC:Adonor_gain1.0000
10:131116798:CC:Cdonor_gain1.0000
10:131116798:CCC:Cdonor_gain1.0000
10:131116798:CCCCT:Cdonor_gain1.0000
10:131134377:A:ACdonor_gain1.0000
10:131134378:C:CCdonor_gain1.0000
10:131134445:TCAG:Tacceptor_gain1.0000
10:131134446:CAG:Cacceptor_gain1.0000
10:131134446:CAGC:Cacceptor_gain1.0000
10:131134447:AG:Aacceptor_gain1.0000
10:131134447:AGCTG:Aacceptor_loss1.0000
10:131134449:C:CCacceptor_gain1.0000
10:131134449:CTG:Cacceptor_loss1.0000
10:131134450:T:Aacceptor_loss1.0000
10:131146504:A:ACdonor_gain1.0000
10:131146505:C:CCdonor_gain1.0000
10:131146505:CTTG:Cdonor_gain1.0000
10:131146656:CACAC:Cacceptor_gain1.0000
10:131146659:ACC:Aacceptor_loss1.0000
10:131146660:CCTG:Cacceptor_loss1.0000
10:131146662:T:Aacceptor_loss1.0000
10:131165904:CA:Cacceptor_gain1.0000
10:131165905:A:Cacceptor_gain1.0000
10:131166792:CTGA:Cdonor_loss1.0000
10:131166794:GAC:Gdonor_loss1.0000

AlphaMissense

3796 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:131146594:C:AW367C1.000
10:131146594:C:GW367C1.000
10:131093301:A:GF541S0.999
10:131098333:A:GL526P0.999
10:131104307:A:CF481L0.999
10:131104307:A:TF481L0.999
10:131104309:A:GF481L0.999
10:131104334:C:AW472C0.999
10:131104334:C:GW472C0.999
10:131146596:A:GW367R0.999
10:131146596:A:TW367R0.999
10:131146627:G:CF356L0.999
10:131146627:G:TF356L0.999
10:131146629:A:GF356L0.999
10:131146648:C:AW349C0.999
10:131146648:C:GW349C0.999
10:131146650:A:GW349R0.999
10:131146650:A:TW349R0.999
10:131163123:A:GW345R0.999
10:131163123:A:TW345R0.999
10:131093300:A:CF541L0.998
10:131093300:A:TF541L0.998
10:131093302:A:GF541L0.998
10:131098330:A:GL527P0.998
10:131098342:A:GF523S0.998
10:131098419:A:CF497L0.998
10:131098419:A:TF497L0.998
10:131098421:A:GF497L0.998
10:131104272:C:GR493P0.998
10:131104336:A:GW472R0.998

dbSNP variants (sampled 300 via entrez): RS1000001405 (10:131194871 G>C), RS1000043340 (10:131155454 C>G,T), RS1000044777 (10:131175878 G>T), RS1000047657 (10:131169713 T>G), RS1000059359 (10:131183752 G>A), RS1000071166 (10:131291945 A>C), RS1000083351 (10:131108237 G>A), RS1000083686 (10:131224837 T>A), RS1000097618 (10:131143227 C>T), RS1000102367 (10:131274980 C>A,T), RS1000115776 (10:131183355 T>C), RS1000116654 (10:131242057 G>A), RS1000120307 (10:131257065 A>C), RS1000126015 (10:131145566 G>T), RS1000129486 (10:131157726 C>A,T)

Disease associations

OMIM: gene MIM:620498 | disease phenotypes: MIM:609625

GenCC curated gene-disease

Mondo (2): primary ovarian failure (MONDO:0005387), distal 10q deletion syndrome (MONDO:0012315)

Orphanet (2): Distal deletion 10q syndrome (Orphanet:96148), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

11 associations (top):

StudyTraitp-value
GCST001033_14Type 2 diabetes5.000000e-06
GCST001438_8Crohn’s disease3.000000e-08
GCST001531_1Temperament7.000000e-06
GCST001604_4Insulin-related traits3.000000e-08
GCST004749_29Lung cancer in ever smokers1.000000e-06
GCST005790_20Rosacea symptom severity9.000000e-06
GCST007626_1Lack of perseverance1.000000e-07
GCST008163_430Height3.000000e-06
GCST009172_3Response to (pegylated) interferon in HBeAg-negative hepatitis B3.000000e-06
GCST010151_19Carotid intima media thickness x smoking interaction6.000000e-06
GCST90013831_1Cisplatin-induced hearing loss in childhood cancer5.000000e-10

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0004825temperament and character inventory
EFO:0009180rosacea severity measurement
EFO:0006946behavioural disinhibition measurement
EFO:0007859response to interferon
EFO:0006527smoking status measurement
EFO:0006951ototoxicity

MeSH disease descriptors (2)

DescriptorNameTree numbers
D016649Primary Ovarian InsufficiencyC12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
C567182Chromosome 10q26 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, affects expression, increases methylation, affects cotreatment8
trichostatin Aaffects cotreatment, increases expression, decreases expression4
Resveratrolaffects cotreatment, decreases expression2
Benzo(a)pyreneaffects methylation, increases methylation2
Phenylmercuric Acetateaffects cotreatment, increases expression2
bisphenol Adecreases methylation1
terbufosincreases methylation1
arseniteincreases methylation1
benzo(e)pyreneincreases methylation1
ferrous chlorideincreases expression1
aflatoxin B2increases methylation1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
2,2’,4,4’,5-brominated diphenyl etherincreases expression1
dorsomorphinincreases expression, affects cotreatment1
Decitabineaffects expression1
Vorinostataffects cotreatment, increases expression1
Cisplatinaffects expression1
Copperaffects cotreatment, decreases expression1
Diethylhexyl Phthalatedecreases expression1
Fonofosincreases methylation1
Folic Aciddecreases expression1
Formaldehydedecreases expression1
Methapyrileneincreases methylation1
Parathionincreases methylation1
Plant Extractsaffects cotreatment, decreases expression1
Tretinoinincreases expression1
Aflatoxin B1decreases methylation1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00417066PHASE4COMPLETEDFlexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693PHASE4COMPLETEDEvaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616PHASE4COMPLETEDEstrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501PHASE4UNKNOWNEffects of ADSC Therapy in Women With POF
NCT02783937PHASE4COMPLETEDFilgrastim for Premature Ovarian Insufficiency
NCT03535480PHASE4UNKNOWNAutologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998PHASE3COMPLETEDEstrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951PHASE2COMPLETEDHormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019PHASE2WITHDRAWNEffects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494PHASE2COMPLETEDGnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852PHASE2SUSPENDEDThe Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467PHASE2UNKNOWNPrevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982PHASE2COMPLETEDThe Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104PHASE1COMPLETEDA Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695PHASE1COMPLETEDInovium Ovarian Rejuvenation Trials
NCT04815213PHASE1ACTIVE_NOT_RECRUITINGThe Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367PHASE1COMPLETEDEffects of UCA-PSCs in Women With POF
NCT06132542PHASE1UNKNOWNAutologous ADMSC Transplantation in Patients With POI
NCT00948857PHASE2/PHASE3TERMINATEDDehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456PHASE2/PHASE3RECRUITINGAutologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743PHASE1/PHASE2UNKNOWNAutologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931PHASE1/PHASE2UNKNOWNAutologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890PHASE1/PHASE2COMPLETEDPregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474PHASE1/PHASE2COMPLETEDIt is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744PHASE1/PHASE2UNKNOWNAutologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447PHASE1/PHASE2COMPLETEDTransplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209PHASE1/PHASE2UNKNOWNAutologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462PHASE1/PHASE2WITHDRAWNVery Small Embryonic-like Stem Cells for Ovary
NCT04009473PHASE1/PHASE2UNKNOWNStem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574PHASE1/PHASE2COMPLETEDComparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398PHASE1/PHASE2UNKNOWNOvarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379PHASE1/PHASE2ACTIVE_NOT_RECRUITINGAutologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547PHASE1/PHASE2UNKNOWNIntra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947EARLY_PHASE1WITHDRAWNThe Use of DHEA in Women With Premature Ovarian Failure
NCT05522634EARLY_PHASE1UNKNOWNA Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327EARLY_PHASE1ACTIVE_NOT_RECRUITINGThe Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275Not specifiedCOMPLETEDOvarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306Not specifiedCOMPLETEDSteroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156Not specifiedCOMPLETEDFeasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925Not specifiedUNKNOWN‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): distal 10q deletion syndrome