SERTAD4

gene
On this page

Also known as DJ667H12.2

Summary

SERTAD4 (SERTA domain containing 4, HGNC:25236) is a protein-coding gene on chromosome 1q32.2, encoding SERTA domain-containing protein 4 (Q9NUC0).

Predicted to be located in nucleus.

Source: NCBI Gene 56256 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 64 total
  • MANE Select transcript: NM_019605

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25236
Approved symbolSERTAD4
NameSERTA domain containing 4
Location1q32.2
Locus typegene with protein product
StatusApproved
AliasesDJ667H12.2
Ensembl geneENSG00000082497
Ensembl biotypeprotein_coding
Entrez56256

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000367012, ENST00000482421, ENST00000483884, ENST00000490620, ENST00000933764, ENST00000946958, ENST00000946959

RefSeq mRNA: 3 — MANE Select: NM_019605 NM_001354173, NM_001375428, NM_019605

CCDS: CCDS1494

Canonical transcript exons

ENST00000367012 — 4 exons

ExonStartEnd
ENSE00001443238210241558210246255
ENSE00001443240210232796210233011
ENSE00003545749210237944210238135
ENSE00003626378210239493210239608

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 89.20.

FANTOM5 (CAGE): breadth broad, TPM avg 2.8481 / max 144.0455, expressed in 887 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
83831.6207545
83860.3739145
83820.3404203
83840.3273171
83850.185880

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370189.20gold quality
olfactory segment of nasal mucosaUBERON:000538685.05gold quality
smooth muscle tissueUBERON:000113580.80gold quality
minor salivary glandUBERON:000183079.67gold quality
saliva-secreting glandUBERON:000104479.20gold quality
parotid glandUBERON:000183178.12gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047378.06gold quality
descending thoracic aortaUBERON:000234577.94gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099177.88gold quality
mouth mucosaUBERON:000372977.39gold quality
ganglionic eminenceUBERON:000402377.37gold quality
ventricular zoneUBERON:000305377.36gold quality
tendonUBERON:000004377.26gold quality
esophagus mucosaUBERON:000246975.96gold quality
apex of heartUBERON:000209875.87gold quality
thoracic aortaUBERON:000151575.40gold quality
ascending aortaUBERON:000149675.23gold quality
muscle layer of sigmoid colonUBERON:003580574.94gold quality
skin of legUBERON:000151174.79gold quality
right coronary arteryUBERON:000162574.33gold quality
nasal cavity mucosaUBERON:000182674.32gold quality
rectumUBERON:000105274.05gold quality
body of uterusUBERON:000985373.48gold quality
colonic epitheliumUBERON:000039773.10gold quality
skin of abdomenUBERON:000141672.97gold quality
prefrontal cortexUBERON:000045172.51gold quality
zone of skinUBERON:000001472.36gold quality
left coronary arteryUBERON:000162672.10gold quality
right atrium auricular regionUBERON:000663171.18gold quality
right uterine tubeUBERON:000130270.66gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting SERTAD4, 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-4673100.0066.641490
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-3925-3P100.0069.951237
HSA-MIR-428299.9975.366408
HSA-MIR-477599.9875.006394
HSA-MIR-4645-5P99.9865.811284
HSA-MIR-548N99.9871.944170
HSA-MIR-806899.9873.852376
HSA-MIR-590-3P99.9674.346478
HSA-MIR-493-5P99.9672.472382
HSA-LET-7C-3P99.9573.422862
HSA-MIR-391099.9571.132227
HSA-MIR-335-3P99.9373.364958
HSA-MIR-806399.9169.763146
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-182-5P99.8774.032589
HSA-LET-7A-2-3P99.8770.531921
HSA-MIR-450399.8571.451869
HSA-LET-7G-3P99.8570.431929
HSA-MIR-469899.8471.414303
HSA-MIR-132399.8369.892471
HSA-MIR-430799.8270.453374
HSA-MIR-57799.7869.132479
HSA-MIR-6885-3P99.7570.363187
HSA-MIR-548O-3P99.7469.302228
HSA-MIR-6752-3P99.7266.711587
HSA-MIR-371499.7170.742671
HSA-MIR-447099.6669.351767
HSA-MIR-9851-3P99.6369.681110

Literature-anchored findings (GeneRIF, showing 1)

  • KRAS mutation promotes the colonization of Fusobacterium nucleatum in colorectal cancer by down-regulating SERTAD4. (PMID:39462261)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriosertad4ENSDARG00000089795
mus_musculusSertad4ENSMUSG00000016262
rattus_norvegicusSertad4ENSRNOG00000060773
drosophila_melanogasterCG2865FBGN0023526

Protein

Protein identifiers

SERTA domain-containing protein 4Q9NUC0 (reviewed: Q9NUC0)

All UniProt accessions (1): Q9NUC0

RefSeq proteins (3): NP_001341102, NP_001362357, NP_062551* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR009263SERTA_domDomain
IPR029708SERTAD4Family

Pfam: PF06031

UniProt features (8 total): region of interest 4, compositionally biased region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NUC0-F152.580.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 170 (showing top): FXR_IR1_Q6, LHX3_01, GGGTGGRR_PAX4_03, WOTTON_RUNX_TARGETS_UP, SRF_Q5_01, GTGCCTT_MIR506, NKX62_Q2, CAGCAGG_MIR370, CCTGTGA_MIR513, WTGAAAT_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, OCT1_06, OCT1_07, GATA1_03, HFH1_01

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

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

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

672 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SERTAD4SERTAD1Q9UHV2700
SERTAD4SERTAD3Q9UJW9643
SERTAD4CDCA4Q9BXL8595
SERTAD4SERTAD2Q14140549
SERTAD4SYT14Q8NB59519
SERTAD4GOLT1BQ9Y3E0488
SERTAD4NBEAL1Q6ZS30446
SERTAD4SACSQ9NZJ4446
SERTAD4SLC30A1Q9Y6M5425
SERTAD4ZBTB44Q8NCP5424
SERTAD4MRPL35Q9NZE8408
SERTAD4CCDC3Q9BQI4405
SERTAD4TMEM273Q5T292401
SERTAD4RCOR3Q9P2K3392
SERTAD4ANKRD66B4E2M5375

IntAct

33 interactions, top by confidence:

ABTypeScore
PPP2R2CPPP2R1Apsi-mi:“MI:0914”(association)0.730
SERTAD4PPP2R1Apsi-mi:“MI:0914”(association)0.730
PPP2R2DYEATS4psi-mi:“MI:0914”(association)0.730
PPP2R2BMYO9Apsi-mi:“MI:0914”(association)0.640
PPP2R2DENSApsi-mi:“MI:0914”(association)0.570
FKBP1ASERTAD4psi-mi:“MI:0915”(physical association)0.560
HSPA2SERTAD4psi-mi:“MI:0915”(physical association)0.560
SARS1SERTAD4psi-mi:“MI:0915”(physical association)0.560
SERTAD4POTEFpsi-mi:“MI:0914”(association)0.530
PPP2R1AENSApsi-mi:“MI:0914”(association)0.530
PPP2R2BDDX3Xpsi-mi:“MI:0914”(association)0.460
SERTAD4BCAP31psi-mi:“MI:0915”(physical association)0.400
AKT1SERTAD4psi-mi:“MI:0915”(physical association)0.400
PPP2R2AENSApsi-mi:“MI:0914”(association)0.350
PPP2R2CIER5psi-mi:“MI:0914”(association)0.350
PPP2R1ASTRNpsi-mi:“MI:0914”(association)0.350
CBLL2SRSF10psi-mi:“MI:0914”(association)0.350
PPP2R2CTCP1psi-mi:“MI:0914”(association)0.350
PPP2R2BA2ML1psi-mi:“MI:0914”(association)0.350
CRY2PER2psi-mi:“MI:0914”(association)0.350
PPP2R2BARHGAP10psi-mi:“MI:0914”(association)0.350

BioGRID (47): POTEF (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PPP2R2A (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), PPP2CB (Affinity Capture-MS), SERTAD4 (Affinity Capture-MS), SERTAD4 (Affinity Capture-MS), SERTAD4 (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), SERTAD4 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), PPP2CA (Affinity Capture-MS)

ESM2 similar proteins: A2VCZ5, A5WWA0, A7DTG3, A9L937, A9ZPC9, B0VXK3, D3Z3C6, D3Z987, O42365, O42367, O43364, P31245, P31246, Q03172, Q06924, Q08727, Q0VCS4, Q15583, Q1EHW4, Q1KKT0, Q1KKT2, Q1KKV1, Q1KKV3, Q1KKZ4, Q1KL11, Q28DZ0, Q32LN6, Q4V7J0, Q5IS58, Q5RD08, Q5SWW4, Q5T0L3, Q6GQU0, Q6PE65, Q80U59, Q80YD3, Q86XD8, Q8AWY2, Q8BG36, Q8S9L0

Diamond homologs: A7DTG3, Q9NUC0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance54
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

563 predictions. Top by Δscore:

VariantEffectΔscore
1:210233008:CGCGG:Cdonor_loss1.0000
1:210233009:GCG:Gdonor_gain1.0000
1:210233012:G:GAdonor_loss1.0000
1:210233012:G:GGdonor_gain1.0000
1:210233013:T:Adonor_loss1.0000
1:210239609:G:GGdonor_gain1.0000
1:210233007:CCGCG:Cdonor_gain0.9900
1:210233008:CGCG:Cdonor_gain0.9900
1:210233009:GCGG:Gdonor_gain0.9900
1:210233010:CG:Cdonor_gain0.9900
1:210233011:GG:Gdonor_gain0.9900
1:210237941:CA:Cacceptor_loss0.9900
1:210237942:A:AGacceptor_gain0.9900
1:210237942:A:ATacceptor_loss0.9900
1:210237943:G:GGacceptor_gain0.9900
1:210237943:GATCT:Gacceptor_gain0.9900
1:210238059:C:Gdonor_gain0.9900
1:210238105:G:GTdonor_gain0.9900
1:210237943:GAT:Gacceptor_gain0.9800
1:210238133:CAGGT:Cdonor_loss0.9800
1:210238134:AG:Adonor_loss0.9800
1:210238135:GGTA:Gdonor_loss0.9800
1:210238136:G:GAdonor_loss0.9800
1:210238137:T:Gdonor_loss0.9800
1:210239595:GCT:Gdonor_gain0.9800
1:210242324:G:GTdonor_gain0.9800
1:210241548:T:Aacceptor_gain0.9700
1:210242380:G:GGdonor_gain0.9700
1:210238009:G:GTdonor_gain0.9600
1:210239840:A:AGdonor_gain0.9600

AlphaMissense

2341 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:210241613:T:CL116P1.000
1:210241643:T:CL126P1.000
1:210241655:T:AV130D1.000
1:210241658:T:CL131P1.000
1:210241628:A:GD121G0.999
1:210241643:T:AL126H0.999
1:210241649:G:CR128T0.999
1:210241649:G:TR128I0.999
1:210241650:A:CR128S0.999
1:210241650:A:TR128S0.999
1:210241651:T:CS129P0.999
1:210241658:T:AL131H0.999
1:210241661:T:AI132K0.999
1:210241668:T:AN134K0.999
1:210241668:T:GN134K0.999
1:210241592:T:CL109P0.998
1:210241600:T:CS112P0.998
1:210241646:G:CR127P0.998
1:210241665:C:AN133K0.998
1:210241665:C:GN133K0.998
1:210239551:G:CK78N0.997
1:210239551:G:TK78N0.997
1:210241609:A:GK115E0.997
1:210241611:G:CK115N0.997
1:210241611:G:TK115N0.997
1:210241631:C:AP122H0.997
1:210241661:T:GI132R0.997
1:210241664:A:TN133I0.997
1:210241666:A:GN134D0.997
1:210241670:T:CL135S0.997

dbSNP variants (sampled 300 via entrez): RS1000007696 (1:210245529 A>G), RS1000040339 (1:210245835 C>T), RS1000218512 (1:210239002 GA>G,GAA), RS1000315699 (1:210233107 C>G), RS1000507934 (1:210240526 A>C), RS1000614631 (1:210233263 C>G), RS1000638866 (1:210234336 G>A), RS1000870762 (1:210245941 T>A), RS1000906504 (1:210239991 C>G), RS1000923111 (1:210245732 G>A), RS1001728456 (1:210240928 A>G), RS1002210087 (1:210242499 T>C), RS1002311664 (1:210235857 T>C), RS1002498133 (1:210243829 T>C), RS1002558608 (1:210237201 G>A,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

2 associations (top):

StudyTraitp-value
GCST004866_6Alopecia areata2.000000e-06
GCST007327_39Smoking status (ever vs never smokers)8.000000e-09

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004318smoking behavior

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression, decreases expression, decreases methylation8
Tobacco Smoke Pollutiondecreases expression3
Tretinoindecreases expression3
bisphenol Aaffects methylation, affects cotreatment, increases methylation, decreases expression2
perfluorooctane sulfonic aciddecreases expression, increases expression2
(+)-JQ1 compounddecreases expression2
Air Pollutantsdecreases expression, increases abundance2
Cisplatinaffects expression, affects cotreatment, decreases expression2
Nickeldecreases expression2
Smokeincreases expression, decreases expression2
Particulate Matterdecreases expression, increases abundance2
2,5,2’,5’-tetrachlorobiphenyldecreases expression1
ethyl-p-hydroxybenzoateincreases expression1
trichostatin Aincreases expression1
sodium arsenitedecreases expression1
perfluorooctanoic acidincreases expression1
tobacco tardecreases expression1
entinostataffects cotreatment, decreases expression1
monomethylarsonous aciddecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression, increases expression1
perfluorohexanesulfonic acidincreases expression1
dorsomorphinaffects cotreatment, decreases expression, increases expression1
jinfukangaffects cotreatment, decreases expression1
NSC668394decreases expression1
Resveratrolaffects cotreatment, decreases expression1
Decitabineaffects expression1
Zoledronic Aciddecreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Vorinostatincreases expression1
Acetaminophendecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alopecia areata