FAXC

gene
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Also known as MGC2817dJ273F20

Summary

FAXC (failed axon connections homolog, metaxin like GST domain containing, HGNC:20742) is a protein-coding gene on chromosome 6q16.2, encoding Failed axon connections homolog (Q5TGI0). May play a role in axonal development.

Predicted to be located in membrane. Predicted to be active in cytoplasm.

Source: NCBI Gene 84553 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 59 total
  • MANE Select transcript: NM_032511

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20742
Approved symbolFAXC
Namefailed axon connections homolog, metaxin like GST domain containing
Location6q16.2
Locus typegene with protein product
StatusApproved
AliasesMGC2817, dJ273F20
Ensembl geneENSG00000146267
Ensembl biotypeprotein_coding
Entrez84553

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000389677, ENST00000461803, ENST00000480148, ENST00000538471

RefSeq mRNA: 5 — MANE Select: NM_032511 NM_001346530, NM_001346531, NM_001346532, NM_001346533, NM_032511

CCDS: CCDS34500

Canonical transcript exons

ENST00000389677 — 6 exons

ExonStartEnd
ENSE000009748009932344499323667
ENSE000011249299934910799349674
ENSE000019111399927116899281453
ENSE000035561569929170499291820
ENSE000036127379934289899343033
ENSE000036551399933335199333547

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 95.79.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7134 / max 53.4280, expressed in 664 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
747880.6074327
747920.4385207
747910.2588133
747900.2300130
747890.118542
747870.060218

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534395.79gold quality
ganglionic eminenceUBERON:000402393.87gold quality
prefrontal cortexUBERON:000045190.34gold quality
ventricular zoneUBERON:000305390.23gold quality
lower esophagus muscularis layerUBERON:003583389.84gold quality
lower esophagusUBERON:001347389.80gold quality
muscle layer of sigmoid colonUBERON:003580589.46gold quality
Brodmann (1909) area 9UBERON:001354088.65gold quality
adenohypophysisUBERON:000219688.02gold quality
esophagogastric junction muscularis propriaUBERON:003584187.95gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099187.66gold quality
dorsolateral prefrontal cortexUBERON:000983487.50gold quality
right frontal lobeUBERON:000281087.47gold quality
frontal cortexUBERON:000187087.15gold quality
neocortexUBERON:000195086.88gold quality
pituitary glandUBERON:000000786.00gold quality
anterior cingulate cortexUBERON:000983585.90gold quality
mucosa of stomachUBERON:000119984.98gold quality
cerebral cortexUBERON:000095684.69gold quality
hypothalamusUBERON:000189884.30gold quality
smooth muscle tissueUBERON:000113584.23gold quality
nucleus accumbensUBERON:000188283.40gold quality
forebrainUBERON:000189083.32gold quality
cerebellar cortexUBERON:000212983.27gold quality
cerebellar hemisphereUBERON:000224583.26gold quality
cerebellumUBERON:000203782.95gold quality
amygdalaUBERON:000187682.94gold quality
islet of LangerhansUBERON:000000682.88gold quality
brainUBERON:000095582.85gold quality
right hemisphere of cerebellumUBERON:001489082.60gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

330 targeting FAXC, 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-3064-3P100.0070.091254
HSA-MIR-126-5P100.0072.713180
HSA-MIR-3163100.0077.238605
HSA-MIR-8485100.0077.574731
HSA-MIR-340-5P100.0072.504437
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-3646100.0073.565283
HSA-MIR-5692A100.0074.406850
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-3924100.0072.092394
HSA-MIR-450099.9972.722367
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-366299.9973.825684
HSA-MIR-186-5P99.9970.833707
HSA-MIR-548AW99.9972.573559
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-607799.9968.042299
HSA-MIR-453499.9966.581907
HSA-MIR-806899.9873.852376
HSA-MIR-3692-3P99.9870.272139
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787

Cross-species orthologs

16 orthologs

OrganismSymbolGene ID
danio_reriofaxcaENSDARG00000075956
danio_reriofaxcbENSDARG00000078981
mus_musculusFaxcENSMUSG00000028246
rattus_norvegicusFaxcENSRNOG00000010106
drosophila_melanogasterfaxFBGN0014163
caenorhabditis_elegansWBGENE00000412
caenorhabditis_elegansWBGENE00008296
caenorhabditis_elegansWBGENE00008297
caenorhabditis_elegansWBGENE00010470
caenorhabditis_elegansWBGENE00010471
caenorhabditis_elegansWBGENE00010472
caenorhabditis_elegansWBGENE00010473
caenorhabditis_elegansWBGENE00012987
caenorhabditis_elegansWBGENE00013266
caenorhabditis_elegansWBGENE00016116
caenorhabditis_elegansF53G12.9WBGENE00018774

Paralogs (3): MTX2 (ENSG00000128654), MTX1 (ENSG00000173171), MTX3 (ENSG00000177034)

Protein

Protein identifiers

Failed axon connections homologQ5TGI0 (reviewed: Q5TGI0)

All UniProt accessions (1): Q5TGI0

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in axonal development.

Subcellular location. Membrane.

Similarity. Belongs to the FAX family.

Isoforms (2)

UniProt IDNamesCanonical?
Q5TGI0-11yes
Q5TGI0-22

RefSeq proteins (5): NP_001333459, NP_001333460, NP_001333461, NP_001333462, NP_115900* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR012336Thioredoxin-like_foldDomain
IPR026928FAX/IsoI-likeFamily
IPR033468Metaxin_GSTDomain
IPR036249Thioredoxin-like_sfHomologous_superfamily
IPR036282Glutathione-S-Trfase_C_sfHomologous_superfamily
IPR040079Glutathione_S-TrfaseFamily
IPR045796FAXC_NDomain
IPR050931Mito_Protein_Transport_MetaxinFamily

Pfam: PF17171, PF17172, PF19333

UniProt features (4 total): chain 1, transmembrane region 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5TGI0-F174.890.54

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 118 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GGCNKCCATNK_UNKNOWN, FINAK_BREAST_CANCER_SDPP_SIGNATURE, BILD_E2F3_ONCOGENIC_SIGNATURE, TGACATY_UNKNOWN, ATF3_Q6, HAN_SATB1_TARGETS_DN, CCCNNGGGAR_OLF1_01, MODULE_207, AACTGGA_MIR145, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, CUI_TCF21_TARGETS_2_UP, ASGHARZADEH_NEUROBLASTOMA_POOR_SURVIVAL_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, CERVERA_SDHB_TARGETS_2

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
intracellular anatomical structure1

Protein interactions and networks

STRING

322 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FAXCCOQ3Q9NZJ6597
FAXCQSER1Q2KHR3556
FAXCUSP45Q70EL2552
FAXCFBXL4Q9UKA2552
FAXCTEX9Q8N6V9542
FAXCPNISRQ8TF01539
FAXCTMTC2Q8N394521
FAXCDSTYKQ6XUX3509
FAXCNUFIP2Q7Z417499
FAXCENTHD1Q8IYW4454
FAXCPRDM13Q9H4Q3448
FAXCOXNAD1Q96HP4447
FAXCFBF1Q8TES7441
FAXCTHRBP10828416
FAXCWDR72Q3MJ13415

IntAct

6 interactions, top by confidence:

ABTypeScore
FAXCFAXCpsi-mi:“MI:0915”(physical association)0.370
FAXCMETTL15psi-mi:“MI:0914”(association)0.350
FAXCPOLRMTpsi-mi:“MI:0914”(association)0.350
ARHGAP19IFIT5psi-mi:“MI:0914”(association)0.350
FAXCHAT1psi-mi:“MI:0914”(association)0.350

BioGRID (118): FAXC (Two-hybrid), ACADM (Co-fractionation), CCT8 (Co-fractionation), FAXC (Co-fractionation), FAXC (Co-fractionation), FAXC (Co-fractionation), DPP9 (Affinity Capture-MS), POLR1B (Affinity Capture-MS), TBC1D9 (Affinity Capture-MS), ATP12A (Affinity Capture-MS), TEX2 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), KIAA0391 (Affinity Capture-MS), TYW1 (Affinity Capture-MS), EVI5L (Affinity Capture-MS)

ESM2 similar proteins: A0JM23, A4IGD2, A5PKL6, A6NHR9, A6QQZ0, D3ZAT9, F1QWA8, O35099, O88741, O94952, P0CI65, P58005, Q29RL0, Q2TBQ7, Q3U213, Q3UMF9, Q4R6P7, Q4R6Y8, Q5E9N5, Q5F204, Q5HYI7, Q5I0G3, Q5IH14, Q5R5S1, Q5R9R1, Q5RL51, Q5TGI0, Q60649, Q6AZT7, Q6DDI6, Q6DDT5, Q6DEY8, Q6NXY1, Q6YXW6, Q7TNH6, Q7Z494, Q8NBP0, Q8NEC7, Q8TB36, Q94E75

Diamond homologs: D3ZAT9, F7E235, Q3UMF9, Q5TGI0, Q95RI5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance50
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1571 predictions. Top by Δscore:

VariantEffectΔscore
6:99291818:CAC:Cacceptor_gain1.0000
6:99291820:CCT:Cacceptor_loss1.0000
6:99291821:C:Aacceptor_loss1.0000
6:99291822:T:Aacceptor_loss1.0000
6:99291825:A:Tacceptor_gain1.0000
6:99333557:G:GCacceptor_gain1.0000
6:99333560:CATT:Cacceptor_gain1.0000
6:99333561:A:Cacceptor_gain1.0000
6:99333563:T:Cacceptor_gain1.0000
6:99333565:T:Cacceptor_gain1.0000
6:99333565:T:TCacceptor_gain1.0000
6:99349102:CTCA:Cdonor_loss1.0000
6:99349104:CA:Cdonor_loss1.0000
6:99349105:A:AGdonor_loss1.0000
6:99349106:C:Adonor_loss1.0000
6:99291816:ATCAC:Aacceptor_gain0.9900
6:99291817:TCAC:Tacceptor_gain0.9900
6:99291818:CACC:Cacceptor_gain0.9900
6:99291819:AC:Aacceptor_gain0.9900
6:99291820:CC:Cacceptor_gain0.9900
6:99291821:C:CCacceptor_gain0.9900
6:99291824:CAG:Cacceptor_gain0.9900
6:99291826:G:GCacceptor_gain0.9900
6:99333344:GACTC:Gdonor_loss0.9900
6:99333345:AC:Adonor_loss0.9900
6:99333346:CT:Cdonor_loss0.9900
6:99333347:T:TAdonor_loss0.9900
6:99333348:C:CCdonor_loss0.9900
6:99333349:A:AGdonor_loss0.9900
6:99333350:C:CTdonor_loss0.9900

AlphaMissense

2737 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:99281394:A:GW334R0.999
6:99281394:A:TW334R0.999
6:99281401:C:AW331C0.999
6:99281401:C:GW331C0.999
6:99281403:A:GW331R0.999
6:99281403:A:TW331R0.999
6:99281425:A:CC323W0.999
6:99281438:A:TL319H0.999
6:99291763:C:TG294E0.999
6:99291764:C:GG294R0.999
6:99291764:C:TG294R0.999
6:99291765:A:CF293L0.999
6:99291765:A:TF293L0.999
6:99291767:A:GF293L0.999
6:99291769:A:TV292D0.999
6:99291775:G:TA290D0.999
6:99323471:C:GD266H0.999
6:99323648:A:GW207R0.999
6:99323648:A:TW207R0.999
6:99333507:G:TP148H0.999
6:99342919:C:AR127S0.999
6:99342919:C:GR127S0.999
6:99342943:A:CC119W0.999
6:99342958:A:CS114R0.999
6:99342958:A:TS114R0.999
6:99342960:T:GS114R0.999
6:99281426:C:TC323Y0.998
6:99281438:A:CL319R0.998
6:99281438:A:GL319P0.998
6:99281447:A:GL316P0.998

dbSNP variants (sampled 300 via entrez): RS1000019872 (6:99298918 C>A,T), RS1000020418 (6:99324373 G>C), RS1000087251 (6:99344895 C>A), RS1000113142 (6:99281707 T>A), RS1000139750 (6:99345196 C>T), RS1000221971 (6:99306508 C>G), RS1000223705 (6:99310059 G>A,C), RS1000235668 (6:99351135 C>A), RS1000398151 (6:99300054 A>C), RS1000497670 (6:99299315 T>C), RS1000627839 (6:99326385 A>C,G), RS1000646403 (6:99273339 G>A,C), RS1000660476 (6:99344815 C>T), RS1000667948 (6:99318215 C>G,T), RS1000743842 (6:99274861 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

5 associations (top):

StudyTraitp-value
GCST005839_10Depression3.000000e-08
GCST006041_46Major depressive disorder6.000000e-06
GCST006922_14Regular attendance at a religious group2.000000e-08
GCST007576_139Chronotype1.000000e-09
GCST008968_3White coat effect (clinic systolic blood pressure minus ambulatory systolic blood pressure)3.000000e-06

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0009592social interaction measurement
EFO:0008328chronotype measurement
EFO:0006944systolic blood pressure change measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D011471Prostatic NeoplasmsC04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

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
sodium arsenitedecreases expression, affects cotreatment, increases abundance, increases expression2
(+)-JQ1 compoundaffects expression, increases reaction, decreases expression2
beta-lapachoneincreases expression1
butyraldehydedecreases expression1
manganese chlorideaffects cotreatment, increases abundance, increases expression1
propionic aciddecreases expression1
nickel sulfateincreases expression1
pentanaldecreases expression1
entinostatdecreases expression1
abrinedecreases expression1
jinfukangaffects cotreatment, decreases expression1
NSC 689534affects binding, decreases expression1
Temozolomideincreases expression1
Sunitinibdecreases expression1
Panobinostataffects expression, increases reaction1
Arsenicaffects cotreatment, increases abundance, increases expression1
Benzo(a)pyreneaffects methylation, increases methylation1
Cisplatinaffects cotreatment, decreases expression1
Copperaffects binding, decreases expression1
Manganeseaffects cotreatment, increases abundance, increases expression1
Nickeldecreases expression1
Testosteronedecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoinincreases expression1
Valproic Aciddecreases expression1
Antirheumatic Agentsincreases expression1
Okadaic Acidincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00029224PHASE4COMPLETEDTreatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997PHASE4COMPLETEDOpen-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609PHASE4COMPLETEDThe Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623PHASE4SUSPENDEDThe Plenaxis® Experience Study
NCT00106392PHASE4COMPLETEDA Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029PHASE4UNKNOWNMR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485PHASE4COMPLETEDAngelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219PHASE4COMPLETEDZoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271PHASE4COMPLETEDEffect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146PHASE4COMPLETEDStudy to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554PHASE4COMPLETEDOpen-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098PHASE4COMPLETEDDocetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696PHASE4COMPLETEDCasodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139PHASE4COMPLETEDEffect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765PHASE4COMPLETEDEffects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690PHASE4COMPLETEDEvaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708PHASE4COMPLETEDLocal Anesthesia for Prostate Biopsy
NCT00526331PHASE4COMPLETEDEvaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213PHASE4COMPLETEDCompare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330PHASE4TERMINATEDDissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966PHASE4COMPLETEDRadical Prostatectomy and Perioperative Fluid Therapy
NCT00805701PHASE4COMPLETEDStudy Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027PHASE4COMPLETEDEffect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269PHASE4UNKNOWNCan Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277PHASE4COMPLETEDStudy of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800PHASE4COMPLETEDDoes Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199PHASE4COMPLETEDGlobal Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226PHASE4COMPLETEDEvaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563PHASE4COMPLETEDRandomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905PHASE4COMPLETEDStudy to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672PHASE4COMPLETED3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143PHASE4TERMINATEDProspective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742PHASE4UNKNOWNComparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563PHASE4COMPLETEDHydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874PHASE4COMPLETEDEfficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472PHASE4TERMINATEDFirmagon (Degarelix) Intermittent Therapy
NCT01547416PHASE4COMPLETEDThe Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544PHASE4COMPLETEDThe Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749PHASE4UNKNOWNEvaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635PHASE4COMPLETEDStudy of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.