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TMPRSS9

gene
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Summary

TMPRSS9 (transmembrane serine protease 9, HGNC:30079) is a protein-coding gene on chromosome 19p13.3, encoding Transmembrane protease serine 9 (Q7Z410). Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC.

The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression.

Source: NCBI Gene 360200 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC) — +1 more curated relationship
  • GWAS associations: 3
  • Clinical variants (ClinVar): 280 total — 2 likely-pathogenic
  • MANE Select transcript: NM_001395513

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30079
Approved symbolTMPRSS9
Nametransmembrane serine protease 9
Location19p13.3
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000178297
Ensembl biotypeprotein_coding
OMIM610477
Entrez360200

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000395264, ENST00000587863, ENST00000592650, ENST00000648592, ENST00000649857, ENST00000696167

RefSeq mRNA: 3 — MANE Select: NM_001395513 NM_001385642, NM_001395513, NM_182973

CCDS: CCDS12088, CCDS92484

Canonical transcript exons

ENST00000696167 — 19 exons

ExonStartEnd
ENSE0000127497624137002414018
ENSE0000129674424156702415841
ENSE0000130059324165382416809
ENSE0000130598024180022418138
ENSE0000130682724240892424257
ENSE0000135908224218542422247
ENSE0000166820424253572425493
ENSE0000176852524250022425267
ENSE0000347040924053742405545
ENSE0000356839624083562408630
ENSE0000359501024102582410394
ENSE0000363997424019752402016
ENSE0000367773723965392396666
ENSE0000368739924030822403195
ENSE0000384018523897612389927
ENSE0000396626823987952398862
ENSE0000396626923602652360360
ENSE0000396627023990182399193
ENSE0000396627124259272426261

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 73.43.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1592 / max 30.8571, expressed in 58 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1730910.140554
1730920.018712

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right lobe of liverUBERON:000111473.43gold quality
liverUBERON:000210770.92gold quality
right testisUBERON:000453470.82gold quality
left testisUBERON:000453370.67gold quality
testisUBERON:000047369.69gold quality
spleenUBERON:000210667.73gold quality
sural nerveUBERON:001548864.70gold quality
bloodUBERON:000017864.48gold quality
bone marrow cellCL:000209263.62gold quality
bone marrowUBERON:000237162.80gold quality
ventricular zoneUBERON:000305362.09gold quality
colonic epitheliumUBERON:000039761.29gold quality
muscle layer of sigmoid colonUBERON:003580561.24gold quality
right coronary arteryUBERON:000162561.00gold quality
stromal cell of endometriumCL:000225560.54gold quality
lower esophagus muscularis layerUBERON:003583360.24gold quality
lower esophagusUBERON:001347360.17gold quality
esophagogastric junction muscularis propriaUBERON:003584159.43gold quality
popliteal arteryUBERON:000225059.10gold quality
tibial arteryUBERON:000761059.08gold quality
right adrenal glandUBERON:000123358.93gold quality
right adrenal gland cortexUBERON:003582758.62gold quality
body of pancreasUBERON:000115058.39gold quality
left adrenal glandUBERON:000123458.19gold quality
skeletal muscle tissueUBERON:000113458.13gold quality
ascending aortaUBERON:000149657.76gold quality
thoracic aortaUBERON:000151557.63gold quality
hindlimb stylopod muscleUBERON:000425257.60gold quality
colonUBERON:000115557.53gold quality
mucosa of stomachUBERON:000119957.43gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes3.36

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

  • Polyserase-I is a human polyprotease with the ability to generate independent serine protease domains from a single translation product (PMID:12886014)
  • The isolation and characterization of serase-1B, a splice variant of polyserase-1, is reported (accession AB109390.1). (PMID:16872279)
  • SNP rs4806846 in TMPRSS9 gene is associated with neuroticism in a European sample. (PMID:23229837)
  • These effects were mediated by the efficient conversion of pro-uPA to active uPA and high phosphorylation levels of ERK detected in the PANC-1 cells expressing exogenous polyserase-1. (PMID:24756697)
  • Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. (PMID:31943016)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriotmprss9ENSDARG00000029841
mus_musculusTmprss9ENSMUSG00000059406
rattus_norvegicusTmprss9ENSRNOG00000032429
drosophila_melanogasterSbFBGN0003319
drosophila_melanogasterCG17242FBGN0250841

Paralogs (17): PRSS22 (ENSG00000005001), PRSS21 (ENSG00000007038), TMPRSS11E (ENSG00000087128), HPN (ENSG00000105707), TMPRSS13 (ENSG00000137747), ST14 (ENSG00000149418), TMPRSS11D (ENSG00000153802), TMPRSS15 (ENSG00000154646), TMPRSS3 (ENSG00000160183), TMPRSS5 (ENSG00000166682), TMPRSS7 (ENSG00000176040), TMPRSS2 (ENSG00000184012), TMPRSS11B (ENSG00000185873), TMPRSS6 (ENSG00000187045), TMPRSS11A (ENSG00000187054), TMPRSS11F (ENSG00000198092), PRSS41 (ENSG00000215148)

Protein

Protein identifiers

Transmembrane protease serine 9 — Q7Z410 (reviewed: Q7Z410)

Alternative names: Polyserase-I, Polyserine protease 1

All UniProt accessions (2): Q7Z410, A0A3B3IU58

UniProt curated annotations — full annotation on UniProt →

Function. Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC. In contrast, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Ala-Pro-Ala-AMC are not significantly hydrolyzed.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in fetal human tissues, such as kidney, liver, lung and brain, and in a variety of tumor cell lines. Weakly expressed in adult tissues including skeletal muscle, liver, placenta and heart.

Post-translational modifications. Proteolytically cleaved to generate 3 independent serine protease chains. The cleaved chains may remain attached to the membrane thanks to disulfide bonds. It is unclear whether cleavage always takes place.

Activity regulation. Inhibited by serine protease inhibitors PMSF and 4-(2-aminoethyl)benzenesulfonyl fluoride, but not by EDTA.

Domain organisation. The serine protease 1 and 2 domains are catalytically active, whereas the serine protease 3 domain lacks the essential Ser residue of the catalytic triad at position 1009 and is predicted to be inactive.

Similarity. Belongs to the peptidase S1 family.

RefSeq proteins (3): NP_001372571, NP_001382442, NP_892018 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001254Trypsin_domDomain
IPR001314Peptidase_S1AFamily
IPR002172LDrepeatLR_classA_rptRepeat
IPR009003Peptidase_S1_PAHomologous_superfamily
IPR017324Tmprss9Family
IPR018114TRYPSIN_HISActive_site
IPR033116TRYPSIN_SERActive_site
IPR036055LDL_receptor-like_sfHomologous_superfamily
IPR043504

Pfam: PF00057, PF00089

UniProt features (51 total): disulfide bond 15, sequence variant 7, active site 6, chain 4, domain 4, glycosylation site 4, site 3, region of interest 2, topological domain 2, sequence conflict 2, compositionally biased region 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7Z410-F174.960.36

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (9): 243 (charge relay system); 292 (charge relay system); 387 (charge relay system); 544 (charge relay system); 592 (charge relay system); 687 (charge relay system); 202–203 (cleavage); 503–504 (cleavage); 826–827 (cleavage)

Disulfide bonds (15): 154–166, 161–180, 174–189, 228–244, 326–393, 358–372, 383–412, 529–545, 626–693, 658–672, 683–712, 853–869, 949–1015, 980–994, 1005–1034

Glycosylation sites (4): 547, 638, 663, 786

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): BRUECKNER_TARGETS_OF_MIRLET7A3_DN, GOBP_PROTEIN_MATURATION, GOBP_ZYMOGEN_ACTIVATION, GOBP_PROTEOLYSIS, chr19p13, GOMF_PEPTIDASE_ACTIVITY, GOBP_PROTEIN_PROCESSING, GOBP_PLASMINOGEN_ACTIVATION, GSE14386_UNTREATED_VS_IFNA_TREATED_ACT_PBMC_MS_PATIENT_UP, SNRNP70_TARGET_GENES, ZNF436_TARGET_GENES, BLANCO_MELO_MERS_COV_INFECTION_MCR5_CELLS_UP, SAFB2_TARGET_GENES, HAY_BONE_MARROW_ERYTHROBLAST, DESCARTES_FETAL_CEREBELLUM_OLIGODENDROCYTES

GO Biological Process (2): plasminogen activation (GO:0031639), proteolysis (GO:0006508)

GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), serine-type peptidase activity (GO:0008236), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
zymogen activation1
protein metabolic process1
endopeptidase activity1
serine-type peptidase activity1
peptidase activity1
serine hydrolase activity1
binding1
hydrolase activity1
catalytic activity, acting on a protein1
catalytic activity1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

502 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TMPRSS9TIMM13P62206795
TMPRSS9CCDC120Q96HB5529
TMPRSS9ASB12Q8WXK4475
TMPRSS9TMEM229BQ8NBD8462
TMPRSS9DNASE2O00115428
TMPRSS9LRRTM2O43300427
TMPRSS9ERICH4A6NGS2419
TMPRSS9DNM3Q9UQ16384
TMPRSS9CPDO75976378
TMPRSS9CCDC121Q6ZUS5348
TMPRSS9DCANP1Q8TF63348
TMPRSS9SIPA1L2Q9P2F8340
TMPRSS9PRSS36Q5K4E3336
TMPRSS9FAM32AQ9Y421319
TMPRSS9DUOXA1Q1HG43315
TMPRSS9ST14Q9Y5Y6315

IntAct

3 interactions, top by confidence:

ABTypeScore
INSRUBXN8psi-mi:“MI:0914”(association)0.350
INSRRIMOC1psi-mi:“MI:0914”(association)0.350

BioGRID (4): TMPRSS9 (Affinity Capture-RNA), TMPRSS9 (Affinity Capture-MS), TMPRSS9 (Cross-Linking-MS (XL-MS)), TMPRSS9 (Affinity Capture-RNA)

ESM2 similar proteins: A1L0T3, A1L4H1, D3ZTE0, G3V801, O08762, O43866, O75636, O95428, O97507, P00748, P22457, P56730, P58215, P69525, P69526, P85521, P98140, Q02853, Q04756, Q04962, Q24K22, Q2VL90, Q2VLG4, Q2VLG6, Q2VLH6, Q499S5, Q4G0T1, Q5G265, Q5G268, Q5G269, Q5G270, Q5G271, Q5IJ48, Q6QNF4, Q70UZ7, Q769J6, Q76LX8, Q7Z410, Q80YA8, Q80YC5

Diamond homologs: A0A182C2Z2, B8V7S0, O08762, O60235, P00747, P00760, P00762, P00765, P00766, P00767, P00774, P03951, P03952, P04070, P04813, P05981, P06867, P06871, P06872, P07146, P07338, P07477, P08217, P08426, P08519, P12545, P14272, P15944, P17538, P19799, P20231, P20918, P26262, P27435, P29786, P35033, P40313, P47796, P50342, P56677

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic2
Uncertain significance223
Likely benign32
Benign4

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
1321299NM_001395513.1(TMPRSS9):c.1196C>A (p.Ser399Ter)Likely pathogenic
4293193NM_001395513.1(TMPRSS9):c.950del (p.Leu317fs)Likely pathogenic

SpliceAI

2758 predictions. Top by Δscore:

VariantEffectΔscore
19:2389926:GG:Gdonor_gain1.0000
19:2389926:GGGTA:Gdonor_loss1.0000
19:2389927:GG:Gdonor_gain1.0000
19:2389928:G:GGdonor_gain1.0000
19:2389928:GTA:Gdonor_loss1.0000
19:2399190:ACAGG:Adonor_loss1.0000
19:2399193:GGTG:Gdonor_loss1.0000
19:2399194:G:GGdonor_gain1.0000
19:2399194:GTGA:Gdonor_loss1.0000
19:2399195:T:Adonor_loss1.0000
19:2401973:A:AGacceptor_gain1.0000
19:2401974:G:GGacceptor_gain1.0000
19:2402014:CAGG:Cdonor_loss1.0000
19:2402017:G:GAdonor_loss1.0000
19:2402018:T:Adonor_loss1.0000
19:2403193:GCG:Gdonor_gain1.0000
19:2403196:G:GGdonor_gain1.0000
19:2405372:A:AGacceptor_gain1.0000
19:2405373:G:GTacceptor_gain1.0000
19:2405373:GA:Gacceptor_gain1.0000
19:2405373:GAGT:Gacceptor_gain1.0000
19:2405541:AATGA:Adonor_gain1.0000
19:2405542:A:Gdonor_gain1.0000
19:2405542:ATGA:Adonor_gain1.0000
19:2405543:TGA:Tdonor_gain1.0000
19:2405544:GA:Gdonor_gain1.0000
19:2405544:GAG:Gdonor_gain1.0000
19:2405546:G:GGdonor_gain1.0000
19:2408354:A:AGacceptor_gain1.0000
19:2408355:G:Aacceptor_loss1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000059185 (19:2391827 C>T), RS1000070574 (19:2382060 C>T), RS1000097498 (19:2417779 G>A), RS1000122432 (19:2393585 T>A), RS1000162023 (19:2387081 G>T), RS1000176462 (19:2363703 T>C), RS1000178125 (19:2364813 A>G), RS1000191486 (19:2411381 CCTT>C), RS1000250438 (19:2377241 T>A), RS1000286435 (19:2411627 C>G,T), RS1000314915 (19:2392102 A>C,G), RS1000345413 (19:2422656 C>G,T), RS1000367881 (19:2391586 A>G), RS1000491429 (19:2378423 T>C,G), RS1000494867 (19:2362930 G>A)

Disease associations

OMIM: gene MIM:610477 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
complex neurodevelopmental disorderLimitedAutosomal recessive
neurodevelopmental disorderLimitedAutosomal recessive

Mondo (2): complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST001771_1Neuroticism8.000000e-06
GCST004780_7Cortisol levels (saliva)3.000000e-06
GCST012442_7Age-related hearing impairment4.000000e-09

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0005843cortisol measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D065886Neurodevelopmental DisordersF03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression2
Aflatoxin B1decreases expression, decreases methylation2
trichostatin Aaffects expression1
sodium arseniteincreases expression1
di-n-butylphosphoric acidaffects expression1
abrineincreases expression1
quinocetoneincreases expression1
bisphenol Sdecreases expression1
(+)-JQ1 compoundincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Amiodaroneincreases expression1
Endosulfanincreases expression1
Estradioldecreases expression1
N-Nitrosopyrrolidinedecreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Tetrachlorodibenzodioxinincreases expression1
Thiramincreases expression1
Valproic Acidincreases methylation1
Cadmium Chloridedecreases expression1
Okadaic Acidincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT04586348PHASE4UNKNOWNPrenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115PHASE4UNKNOWNDouble-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102PHASE3COMPLETEDDexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079PHASE3COMPLETEDStudy of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480PHASE3RECRUITINGReducing Missed Appointments
NCT07377032PHASE3RECRUITINGTAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959PHASE2COMPLETEDSulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348PHASE2RECRUITINGSertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372PHASE2COMPLETEDSafety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191PHASE1COMPLETEDNeuroModulation Technique Treatment of Autism
NCT04475848PHASE1COMPLETEDA Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398PHASE1COMPLETEDIAMA-6 Oral Dose Study in Healthy Adults
NCT06310681Not specifiedCOMPLETEDPilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049Not specifiedNOT_YET_RECRUITINGCognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01783041PHASE2/PHASE3COMPLETEDEffect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385PHASE2/PHASE3RECRUITINGFetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098EARLY_PHASE1NOT_YET_RECRUITINGCentral Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783Not specifiedCOMPLETEDCYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504Not specifiedRECRUITINGStudying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784Not specifiedUNKNOWNHigh Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791Not specifiedCOMPLETEDNutrition and Pregnancy Intervention Study
NCT01942525Not specifiedUNKNOWNInfluence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170Not specifiedCOMPLETEDEtiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649Not specifiedACTIVE_NOT_RECRUITINGEnhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191Not specifiedTERMINATEDBiomarkers, Neurodevelopment and Preterm Infants
NCT02690675Not specifiedCOMPLETEDIron Supplement Effect on Child Development
NCT02694003Not specifiedCOMPLETEDBetter Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894Not specifiedCOMPLETEDFamily Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674Not specifiedUNKNOWNGood Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157Not specifiedCOMPLETEDAnalyzing Retinal Microanatomy in ROP
NCT02898298Not specifiedCOMPLETEDPositive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780Not specifiedUNKNOWNIntroduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293Not specifiedCOMPLETEDn-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644Not specifiedCOMPLETEDImproving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991Not specifiedUNKNOWNEarly Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189Not specifiedTERMINATEDEffect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028Not specifiedCOMPLETEDDevelopmental Origins of Mental Health Disorders
NCT03148782Not specifiedCOMPLETEDBrain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104Not specifiedCOMPLETEDNeurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375Not specifiedRECRUITINGSQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism

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
v1.1.4
BioBTree
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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