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SUSD6

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Summary

SUSD6 (sushi domain containing 6, HGNC:19956) is a protein-coding gene on chromosome 14q24.1, encoding Sushi domain-containing protein 6 (Q92537). May play a role in growth-suppressive activity and cell death.

Involved in DNA damage response. Predicted to be located in membrane.

Source: NCBI Gene 9766 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 61 total
  • MANE Select transcript: NM_014734

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19956
Approved symbolSUSD6
Namesushi domain containing 6
Location14q24.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000100647
Ensembl biotypeprotein_coding
OMIM616761
Entrez9766

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000342745, ENST00000553497, ENST00000556993, ENST00000853574, ENST00000853575, ENST00000853576, ENST00000853577, ENST00000853578, ENST00000853579, ENST00000853580, ENST00000853581, ENST00000949614, ENST00000949615

RefSeq mRNA: 1 — MANE Select: NM_014734 NM_014734

CCDS: CCDS9796

Canonical transcript exons

ENST00000342745 — 6 exons

ExonStartEnd
ENSE000008078436970339569703592
ENSE000009991046970460469704742
ENSE000013822436965851369658713
ENSE000014117606971095469715144
ENSE000014140936970867769709104
ENSE000014245536961159669611828

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 97.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.0121 / max 1170.0365, expressed in 1824 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
14034817.94691801
14035014.79051740
1403522.2830774
1403510.8973439
1403490.6565339
1403550.2505137
1403560.127873
1403570.059726

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
epithelium of nasopharynxUBERON:000195197.68gold quality
cerebellar vermisUBERON:000472097.38gold quality
secondary oocyteCL:000065596.99gold quality
esophagus squamous epitheliumUBERON:000692096.70gold quality
cartilage tissueUBERON:000241896.49gold quality
paraflocculusUBERON:000535196.36gold quality
epithelium of esophagusUBERON:000197696.22gold quality
tongue squamous epitheliumUBERON:000691995.93gold quality
jejunal mucosaUBERON:000039995.90gold quality
corpus epididymisUBERON:000435995.78gold quality
gingival epitheliumUBERON:000194995.72gold quality
oocyteCL:000002395.59gold quality
squamous epitheliumUBERON:000691495.56gold quality
tracheaUBERON:000312695.51gold quality
gingivaUBERON:000182895.16gold quality
deciduaUBERON:000245094.98gold quality
lower lobe of lungUBERON:000894994.78gold quality
pharyngeal mucosaUBERON:000035594.67gold quality
bloodUBERON:000017894.66gold quality
visceral pleuraUBERON:000240194.54gold quality
palpebral conjunctivaUBERON:000181294.50gold quality
oral cavityUBERON:000016794.44gold quality
penisUBERON:000098994.38gold quality
duodenumUBERON:000211494.28gold quality
renal medullaUBERON:000036294.25gold quality
vermiform appendixUBERON:000115494.04gold quality
mucosa of urinary bladderUBERON:000125993.97gold quality
parotid glandUBERON:000183193.80gold quality
adult organismUBERON:000702393.71gold quality
superficial temporal arteryUBERON:000161493.69gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-MTAB-6911yes299.36
E-MTAB-7249yes186.00
E-CURD-119yes4.79
E-MTAB-6075no1028.95
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

miRNA regulators (miRDB)

264 targeting SUSD6, 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-190A-3P100.0080.355520
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3163100.0077.238605
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-4533100.0069.482758
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-4692100.0067.322066
HSA-MIR-4673100.0066.641490
HSA-MIR-4283100.0066.422097
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-318599.9968.121959
HSA-MIR-451499.9967.101870
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-103A-3P99.9869.141595
HSA-MIR-10799.9869.141595
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-4650-5P99.9864.69999
HSA-MIR-548AN99.9770.912817
HSA-MIR-493-5P99.9672.472382
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-495-3P99.9672.814197
HSA-MIR-568899.9673.234504
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753

Literature-anchored findings (GeneRIF, showing 5)

  • gene silencing in umbilical vein endothelial cells causes decrease in monocyte chemoattractant protein-1 production during endotoxemia (PMID:20236627)
  • This is the first description of a linkage between KIAA0247 and colorectal cancer. (PMID:21619678)
  • DRAGO (drug-activated gene overexpressed) KIAA0247 represents a new p53-dependent gene highly regulated in human cells and whose expression cooperates with p53 in tumor suppressor functions. (PMID:24652652)
  • overexpression of KIAA0247 is able to inhibit phosphorylation of AKT and Stat3 in glioma cells, resulting in inactivation of the AKT and Stat3 signaling pathways, this ultimately decreases the expression of PCNA, CyclinD1, Bcl2 and VEGF. (PMID:27893430)
  • KIAA0247 is a candidate prognostic biomarker and potential therapeutic target in NSCLC. (PMID:29451718)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriosusd6ENSDARG00000030116
mus_musculusSusd6ENSMUSG00000021133
rattus_norvegicusSusd6ENSRNOG00000045941

Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SEZ6L (ENSG00000100095), SRPX (ENSG00000101955), SRPX2 (ENSG00000102359), C7 (ENSG00000112936), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), CSMD2 (ENSG00000121904), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR4 (ENSG00000134365), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), SEZ6L2 (ENSG00000174938), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CD55 (ENSG00000196352), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)

Protein

Protein identifiers

Sushi domain-containing protein 6 — Q92537 (reviewed: Q92537)

Alternative names: Drug-activated gene overexpressed protein

All UniProt accessions (1): Q92537

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in growth-suppressive activity and cell death. May be involved in the production of chemokine molecules in umbilical vein endothelial cells (HUVECs) cultured in THP1 monocyte LPS-induced medium. Plays a role in preventing tumor onset.

Subcellular location. Membrane.

Induction. Up-regulated by chemotherapeutic DNA-damaging agents and by p53/TP53 and/or by p73/TP73 in response to cytotoxic insults. Up-regulated by lipopolysaccharide (LPS) in monocytic THP1 cells. Up-regulated in umbilical vein endothelial cells (HUVECs) cultured in THP1 monocyte LPS-induced medium.

RefSeq proteins (1): NP_055549* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000436Sushi_SCR_CCP_domDomain
IPR035976Sushi/SCR/CCP_sfHomologous_superfamily
IPR042866SUSD6Family

Pfam: PF00084

UniProt features (10 total): topological domain 2, region of interest 2, disulfide bond 2, signal peptide 1, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q92537-F164.310.23

Functional residue map

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

Disulfide bonds (2): 42–89, 74–102

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (1): DNA damage response (GO:0006974)

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular response to stress1
binding1
cellular anatomical structure1

Protein interactions and networks

STRING

448 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SUSD6A0A087WYV9A0A087WYV9447
SUSD6C3orf62Q6ZUJ4445
SUSD6PRELID3AQ96N28398
SUSD6MANSC1Q9H8J5391
SUSD6PLEKHD1A6NEE1376
SUSD6AENQ8WTP8371
SUSD6BTG2P78543352
SUSD6SESN1Q9Y6P5348
SUSD6TSEN34Q9BSV6344
SUSD6LSMEM1Q8N8F7338
SUSD6TRIAP1O43715330
SUSD6ESPNB1AK53327
SUSD6KLHL14Q9P2G3324
SUSD6RNF24Q9Y225322
SUSD6PLS3P13797321

IntAct

36 interactions, top by confidence:

ABTypeScore
SUSD6KRTAP10-8psi-mi:“MI:0915”(physical association)0.720
KRTAP10-8SUSD6psi-mi:“MI:0915”(physical association)0.720
ADAMTSL4SUSD6psi-mi:“MI:0915”(physical association)0.560
SUSD6ADAMTSL4psi-mi:“MI:0915”(physical association)0.560
TMEM19SUSD6psi-mi:“MI:0915”(physical association)0.560
KRTAP1-3SUSD6psi-mi:“MI:0915”(physical association)0.560
SUSD6TMEM19psi-mi:“MI:0915”(physical association)0.560
SUSD6OTULINpsi-mi:“MI:0915”(physical association)0.560
SUSD6UBXN6psi-mi:“MI:0915”(physical association)0.560
SUSD6DCUN1D1psi-mi:“MI:0915”(physical association)0.560
MTURNSUSD6psi-mi:“MI:0915”(physical association)0.560
SUSD6FAM241Bpsi-mi:“MI:0915”(physical association)0.560
SNAP23psi-mi:“MI:0914”(association)0.350
SUSD6NEDD4psi-mi:“MI:0914”(association)0.350
DLK1PLPP3psi-mi:“MI:0914”(association)0.350
KRTAP10-8SUSD6psi-mi:“MI:0915”(physical association)0.000
SUSD6KRTAP1-3psi-mi:“MI:0915”(physical association)0.000
OTULINSUSD6psi-mi:“MI:0915”(physical association)0.000
UBXN6SUSD6psi-mi:“MI:0915”(physical association)0.000
DCUN1D1SUSD6psi-mi:“MI:0915”(physical association)0.000
FAM241BSUSD6psi-mi:“MI:0915”(physical association)0.000

BioGRID (22): ADAMTSL4 (Two-hybrid), KRTAP10-8 (Two-hybrid), NEDD4L (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), NEDD4 (Affinity Capture-MS), SUSD6 (Affinity Capture-RNA), SUSD6 (Two-hybrid), TMEM19 (Two-hybrid), OTULIN (Two-hybrid), UBXN6 (Two-hybrid), C10orf35 (Two-hybrid), MTURN (Two-hybrid), KRTAP10-8 (Two-hybrid)

ESM2 similar proteins: A0PJX4, A2A8U2, A4D2P6, A6QM06, D4A6L0, E1BBQ2, O15079, O60320, P12755, P49797, P97260, Q0D2I5, Q12770, Q15884, Q1RMB5, Q3TS39, Q3UPR0, Q4FZH1, Q5MNU5, Q5SNT2, Q5T848, Q5XKK7, Q60698, Q6A044, Q7T0Z7, Q7TMB0, Q7TPB0, Q810F0, Q86XR5, Q8BX43, Q8BXL9, Q8C419, Q8CA71, Q8K064, Q8K2Y3, Q8N114, Q8NDY8, Q8WV15, Q91WM6, Q92537

Diamond homologs: A0A1D5NSM8, E7FEC4, P08174, P0C6B8, P98110, Q09101, Q29RN8, Q4V9Z5, Q501P1, Q5R8M2, Q5VX71, Q6AX42, Q6P1D5, Q6UXD5, Q7Z407, Q80T79, Q8BGE4, Q8BH32, Q92537, Q9BXR6, Q9BYH1, A0JNA2, A2AVA0, P28175, P42201, Q00690, Q01102, Q26422, Q60736, Q61475, Q61476, Q63515, Q7TSK2, Q9TUQ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance44
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1310 predictions. Top by Δscore:

VariantEffectΔscore
14:69658508:TACA:Tacceptor_loss1.0000
14:69658511:A:AGacceptor_gain1.0000
14:69658511:AGGT:Aacceptor_gain1.0000
14:69658512:G:GAacceptor_loss1.0000
14:69658512:G:GGacceptor_gain1.0000
14:69658512:GGT:Gacceptor_gain1.0000
14:69658512:GGTG:Gacceptor_gain1.0000
14:69658709:TTCCG:Tdonor_gain1.0000
14:69658710:TCCG:Tdonor_gain1.0000
14:69658711:CCGG:Cdonor_loss1.0000
14:69658712:CG:Cdonor_gain1.0000
14:69658712:CGG:Cdonor_loss1.0000
14:69658713:GG:Gdonor_gain1.0000
14:69658714:G:GGdonor_gain1.0000
14:69658715:T:Adonor_loss1.0000
14:69703534:GACGT:Gdonor_gain1.0000
14:69703589:GAGG:Gdonor_gain1.0000
14:69703591:GG:Gdonor_gain1.0000
14:69703592:GG:Gdonor_gain1.0000
14:69703616:G:Tdonor_gain1.0000
14:69709101:GATG:Gdonor_gain1.0000
14:69611827:GG:Gdonor_gain0.9900
14:69611828:GG:Gdonor_gain0.9900
14:69658501:T:TAacceptor_gain0.9900
14:69658505:T:TAacceptor_gain0.9900
14:69658511:AG:Aacceptor_gain0.9900
14:69658512:GG:Gacceptor_gain0.9900
14:69658512:GGTGA:Gacceptor_gain0.9900
14:69658711:CCG:Cdonor_gain0.9900
14:69670401:A:Tdonor_gain0.9900

AlphaMissense

1938 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:69703553:T:AW94R1.000
14:69703553:T:CW94R1.000
14:69703555:G:CW94C1.000
14:69703555:G:TW94C1.000
14:69704661:C:AA126D1.000
14:69704663:A:CS127R1.000
14:69704665:C:AS127R1.000
14:69704665:C:GS127R1.000
14:69703493:T:AC74S0.999
14:69703493:T:CC74R0.999
14:69703494:G:AC74Y0.999
14:69703494:G:CC74S0.999
14:69703495:T:GC74W0.999
14:69703538:T:AC89S0.999
14:69703539:G:CC89S0.999
14:69703577:T:AC102S0.999
14:69703577:T:CC102R0.999
14:69703578:G:CC102S0.999
14:69703579:C:GC102W0.999
14:69704652:C:AA123D0.999
14:69704682:T:AL133H0.999
14:69708756:G:CA180P0.999
14:69703487:T:GY72D0.998
14:69703538:T:CC89R0.998
14:69703539:G:AC89Y0.998
14:69703540:T:GC89W0.998
14:69703554:G:CW94S0.998
14:69703578:G:AC102Y0.998
14:69704660:G:CA126P0.998
14:69704682:T:CL133P0.998

dbSNP variants (sampled 300 via entrez): RS1000004320 (14:69627756 G>T), RS1000063142 (14:69637550 G>A), RS1000088828 (14:69686840 T>G), RS1000143394 (14:69633973 A>G), RS1000158694 (14:69697786 A>G), RS1000191582 (14:69610565 C>G), RS1000192271 (14:69707206 C>G), RS1000211392 (14:69713822 T>C), RS1000223973 (14:69656334 C>G,T), RS1000240998 (14:69713549 G>A,C), RS1000241247 (14:69621253 T>A), RS1000243522 (14:69683906 C>T), RS1000256070 (14:69618398 G>A), RS1000265231 (14:69628182 C>T), RS1000303762 (14:69671095 T>A)

Disease associations

OMIM: gene MIM:616761 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

StudyTraitp-value
GCST003831_8Asthma8.000000e-06
GCST010397_81Gut microbiota (bacterial taxa, rank normal transformation method)7.000000e-06
GCST90002390_269Mean corpuscular hemoglobin8.000000e-13
GCST90002392_457Mean corpuscular volume9.000000e-15
GCST90002396_569Mean reticulocyte volume6.000000e-19
GCST90002397_364Mean spheric corpuscular volume5.000000e-10
GCST90002400_136Plateletcrit3.000000e-09

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0007874gut microbiome measurement
EFO:0004527mean corpuscular hemoglobin
EFO:0010701mean reticulocyte volume
EFO:0007985platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
trichostatin Aaffects cotreatment, decreases expression, increases expression3
Benzo(a)pyreneaffects methylation, increases expression, increases methylation3
Vorinostataffects cotreatment, decreases expression2
Acetaminophenincreases expression2
Valproic Acidaffects expression, decreases expression2
Aflatoxin B1increases expression, increases methylation2
biochanin Aincreases expression1
triphenyl phosphateaffects expression1
aflatoxin B2affects methylation1
nitazoxanideaffects response to substance1
di-n-butylphosphoric acidaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1
(+)-JQ1 compoundincreases expression1
Leflunomideincreases expression1
Air Pollutantsaffects expression, increases abundance1
Cisplatinaffects cotreatment, increases expression1
Doxorubicindecreases expression1
Hydrogen Peroxideaffects expression1
Ozoneaffects expression, increases abundance1
Silicon Dioxidedecreases expression1
Testosteronedecreases expression1
Tretinoinincreases expression1
Urethaneincreases expression1
Cyclosporinedecreases expression1
Asbestos, Serpentineaffects expression1
Asbestos, Crocidoliteaffects expression1
Antirheumatic Agentsdecreases expression1
tert-Butylhydroperoxideincreases expression1

Clinical trials (associated diseases)

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

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

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
v2.0.2

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