SSR3
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Also known as TRAPG
Summary
SSR3 (signal sequence receptor subunit 3, HGNC:11325) is a protein-coding gene on chromosome 3q25.31, encoding Translocon-associated protein subunit gamma (Q9UNL2). TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times.
Source: NCBI Gene 6747 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital disorder of glycosylation (Moderate, GenCC)
- GWAS associations: 6
- Clinical variants (ClinVar): 48 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_007107
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11325 |
| Approved symbol | SSR3 |
| Name | signal sequence receptor subunit 3 |
| Location | 3q25.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRAPG |
| Ensembl gene | ENSG00000114850 |
| Ensembl biotype | protein_coding |
| OMIM | 606213 |
| Entrez | 6747 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000265044, ENST00000463503, ENST00000464138, ENST00000467733, ENST00000467789, ENST00000476217, ENST00000478842, ENST00000496050, ENST00000498205, ENST00000896020, ENST00000896021, ENST00000926887, ENST00000960095
RefSeq mRNA: 4 — MANE Select: NM_007107
NM_001308197, NM_001308204, NM_001308205, NM_007107
CCDS: CCDS3176, CCDS77846, CCDS82865
Canonical transcript exons
ENST00000265044 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001157057 | 156539553 | 156543269 |
| ENSE00001861920 | 156554957 | 156555117 |
| ENSE00003550820 | 156544308 | 156544439 |
| ENSE00003603284 | 156553655 | 156553781 |
| ENSE00003613367 | 156548905 | 156549003 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 99.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 286.2892 / max 4564.9179, expressed in 1825 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45257 | 250.0214 | 1825 |
| 45258 | 36.2679 | 1818 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 99.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.14 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.96 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.28 | gold quality |
| endocervix | UBERON:0000458 | 98.24 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.22 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.12 | gold quality |
| rectum | UBERON:0001052 | 98.06 | gold quality |
| caput epididymis | UBERON:0004358 | 98.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.02 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.01 | gold quality |
| pancreas | UBERON:0001264 | 97.92 | gold quality |
| monocyte | CL:0000576 | 97.84 | gold quality |
| tendon | UBERON:0000043 | 97.80 | gold quality |
| left uterine tube | UBERON:0001303 | 97.80 | gold quality |
| endometrium | UBERON:0001295 | 97.63 | gold quality |
| pylorus | UBERON:0001166 | 97.60 | gold quality |
| ectocervix | UBERON:0012249 | 97.54 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.50 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.43 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.42 | gold quality |
| pericardium | UBERON:0002407 | 97.42 | gold quality |
| body of uterus | UBERON:0009853 | 97.29 | gold quality |
| gall bladder | UBERON:0002110 | 97.28 | gold quality |
| left ovary | UBERON:0002119 | 97.22 | gold quality |
| mononuclear cell | CL:0000842 | 97.11 | gold quality |
| right ovary | UBERON:0002118 | 97.08 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.07 | gold quality |
| lower esophagus | UBERON:0013473 | 97.06 | gold quality |
| leukocyte | CL:0000738 | 97.05 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9467 | yes | 943.19 |
| E-CURD-88 | yes | 424.66 |
| E-HCAD-1 | yes | 62.09 |
| E-CURD-46 | yes | 59.51 |
| E-HCAD-4 | yes | 57.77 |
| E-CURD-122 | yes | 53.13 |
| E-MTAB-8410 | yes | 41.83 |
| E-HCAD-5 | yes | 33.17 |
| E-HCAD-9 | yes | 26.09 |
| E-HCAD-11 | yes | 22.95 |
| E-MTAB-10553 | yes | 10.77 |
| E-MTAB-10042 | yes | 6.88 |
| E-MTAB-6075 | no | 1049.03 |
| E-CURD-114 | no | 21.85 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT5A, STAT5B
miRNA regulators (miRDB)
170 targeting SSR3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
Literature-anchored findings (GeneRIF, showing 8)
- translocon-associated protein subunit gamma (TRAPgamma) was identified as a novel TR3 binding partner. (PMID:23660295)
- Data suggest that the mutation leads to complete absence of TRAP gamma (SSR3). (PMID:28218252)
- SSR3 acts as an oncogene in hepatocellular carcinoma with overexpression predicting poor survival. (PMID:29940286)
- Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. (PMID:30945312)
- TRAPgamma-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms. (PMID:32332102)
- The Role of TRAPgamma/SSR3 in Preproinsulin Translocation Into the Endoplasmic Reticulum. (PMID:34857543)
- Translocon-associated Protein Subunit SSR3 Determines and Predicts Susceptibility to Paclitaxel in Breast Cancer and Glioblastoma. (PMID:35552677)
- Signal sequence receptor subunit 3: A novel indicator of immunosuppressive tumor microenvironment and clinical benefits from immunotherapy. (PMID:37652395)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ssr3 | ENSDARG00000014165 |
| mus_musculus | Ssr3 | ENSMUSG00000027828 |
| rattus_norvegicus | Ssr3 | ENSRNOG00000011148 |
| drosophila_melanogaster | CG5885 | FBGN0025700 |
| caenorhabditis_elegans | WBGENE00021420 |
Protein
Protein identifiers
Translocon-associated protein subunit gamma — Q9UNL2 (reviewed: Q9UNL2)
Alternative names: Signal sequence receptor subunit gamma
All UniProt accessions (3): Q9UNL2, C9J365, C9JA28
UniProt curated annotations — full annotation on UniProt →
Function. TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
Subunit / interactions. Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP-gamma.
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the TRAP-gamma family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UNL2-1 | 1 | yes |
| Q9UNL2-2 | 2 |
RefSeq proteins (4): NP_001295126, NP_001295133, NP_001295134, NP_009038* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009779 | SSR3 | Family |
Pfam: PF07074
UniProt features (14 total): topological domain 4, modified residue 4, transmembrane region 4, chain 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9N9J | ELECTRON MICROSCOPY | 3.2 |
| 9YGY | ELECTRON MICROSCOPY | 4.1 |
| 8B6L | ELECTRON MICROSCOPY | 7.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UNL2-F1 | 84.52 | 0.46 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 7, 11, 105, 1
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-72766 | Translation |
MSigDB gene sets: 246 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, WANG_RECURRENT_LIVER_CANCER_UP, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, KYNG_DNA_DAMAGE_DN, KYNG_DNA_DAMAGE_BY_4NQO, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MODULE_503, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, MODULE_195, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, BYSTROEM_CORRELATED_WITH_IL5_DN
GO Biological Process (1): SRP-dependent cotranslational protein targeting to membrane (GO:0006614)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translation | 1 |
| cotranslational protein targeting to membrane | 1 |
| protein targeting to ER | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1004 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SSR3 | SSR1 | P43307 | 998 |
| SSR3 | SSR2 | P43308 | 996 |
| SSR3 | SSR4 | P51571 | 978 |
| SSR3 | SEC61A1 | P38378 | 692 |
| SSR3 | DDOST | P39656 | 591 |
| SSR3 | OST4 | P0C6T2 | 565 |
| SSR3 | OSTC | Q9NRP0 | 531 |
| SSR3 | RPL31 | P12947 | 525 |
| SSR3 | SSTR3 | P32745 | 521 |
| SSR3 | STT3A | P46977 | 511 |
| SSR3 | STT3B | Q8TCJ2 | 504 |
| SSR3 | SPCS2 | Q15005 | 496 |
| SSR3 | HRH4 | Q9H3N8 | 475 |
| SSR3 | SEC63 | Q9UGP8 | 460 |
| SSR3 | KRTCAP2 | Q8N6L1 | 443 |
IntAct
111 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| DDX3X | psi-mi:“MI:0914”(association) | 0.630 | |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| RABAC1 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPN1 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| SCD | psi-mi:“MI:0914”(association) | 0.500 | |
| SPAG1 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| COL6A6 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KLRC4 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPS8 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CYP2C9 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SSR2 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SERPINB8 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATF7IP2 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FAM120A | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GRIK3 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC22A14 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NDNF | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| E2F3 | SSR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MEP1B | SSR3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (204): CLTC (Co-fractionation), DDX39A (Co-fractionation), DDX39B (Co-fractionation), HSD17B12 (Co-fractionation), MAGT1 (Co-fractionation), RPL10A (Co-fractionation), RPLP2 (Co-fractionation), RTN4 (Co-fractionation), SEC61A1 (Co-fractionation), SSR1 (Co-fractionation), SSR3 (Co-fractionation), SSR3 (Co-fractionation), SSR3 (Co-fractionation), SSR3 (Co-fractionation), SSR3 (Co-fractionation)
ESM2 similar proteins: A1CJW1, A1D7K7, A3LU53, A4R0J5, A5DGY3, A6R3V7, A6ZV87, A7F5K4, A7TSA7, A9JTJ0, B2WDD8, B3LIC1, B4UN04, B8JLV7, O64614, P0CS24, P41806, Q08013, Q0CXF5, Q0UV26, Q28CH8, Q28GR4, Q2HDV5, Q3B8G4, Q3SZ87, Q3UDR8, Q42337, Q4V7U1, Q4V8S3, Q5BK13, Q5F384, Q5RAS8, Q5RCD7, Q5SYH2, Q5ZLL0, Q6BXM0, Q6CDK3, Q6CQP9, Q6TUD4, Q75EI3
Diamond homologs: Q08013, Q3SZ87, Q55GT5, Q5RCD7, Q9DCF9, Q9UNL2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SSR3 | “form complex” | “TRAP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 116 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Regulation of CDH1 posttranslational processing and trafficking to plasma membrane | 5 | 21.3× | 2e-04 |
| Maturation of spike protein | 6 | 20.2× | 5e-05 |
| SRP-dependent cotranslational protein targeting to membrane | 14 | 17.8× | 2e-11 |
| Regulation of RAS by GAPs | 6 | 14.7× | 2e-04 |
| Maturation of DENV proteins | 5 | 13.4× | 1e-03 |
| Translation | 12 | 9.4× | 1e-06 |
| Anchoring of the basal body to the plasma membrane | 6 | 8.6× | 1e-03 |
| ER-Phagosome pathway | 5 | 8.2× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 8 | 14.7× | 5e-05 |
| positive regulation of apoptotic process | 10 | 5.6× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 22 |
| Likely benign | 13 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 982233 | NM_007107.5(SSR3):c.278_281del (p.Glu93fs) | Likely pathogenic |
SpliceAI
989 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:156544307:CA:C | donor_gain | 1.0000 |
| 3:156544435:AGATT:A | acceptor_gain | 1.0000 |
| 3:156544436:GATT:G | acceptor_gain | 1.0000 |
| 3:156544437:ATT:A | acceptor_gain | 1.0000 |
| 3:156544438:TT:T | acceptor_gain | 1.0000 |
| 3:156544439:TCT:T | acceptor_loss | 1.0000 |
| 3:156544440:C:CC | acceptor_gain | 1.0000 |
| 3:156548867:C:CA | donor_gain | 1.0000 |
| 3:156548885:A:AC | donor_gain | 1.0000 |
| 3:156548886:C:CC | donor_gain | 1.0000 |
| 3:156548888:TTAA:T | donor_gain | 1.0000 |
| 3:156548999:CTACT:C | acceptor_gain | 1.0000 |
| 3:156549000:TACT:T | acceptor_gain | 1.0000 |
| 3:156549002:CT:C | acceptor_gain | 1.0000 |
| 3:156549004:C:CC | acceptor_gain | 1.0000 |
| 3:156553653:A:AC | donor_gain | 1.0000 |
| 3:156553654:C:CC | donor_gain | 1.0000 |
| 3:156554952:CTCA:C | donor_loss | 1.0000 |
| 3:156554953:TCA:T | donor_loss | 1.0000 |
| 3:156554955:A:AC | donor_gain | 1.0000 |
| 3:156554956:C:CA | donor_gain | 1.0000 |
| 3:156554956:CA:C | donor_gain | 1.0000 |
| 3:156554956:CAG:C | donor_gain | 1.0000 |
| 3:156554956:CAGA:C | donor_gain | 1.0000 |
| 3:156554956:CAGAT:C | donor_gain | 1.0000 |
| 3:156544302:GGAT:G | donor_loss | 0.9900 |
| 3:156544303:GAT:G | donor_loss | 0.9900 |
| 3:156544304:ATAC:A | donor_loss | 0.9900 |
| 3:156544305:T:TG | donor_loss | 0.9900 |
| 3:156544306:A:AC | donor_gain | 0.9900 |
AlphaMissense
1214 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:156543238:C:G | G175R | 1.000 |
| 3:156543238:C:T | G175R | 1.000 |
| 3:156544402:C:G | A133P | 1.000 |
| 3:156544413:G:T | A129D | 1.000 |
| 3:156544414:C:G | A129P | 1.000 |
| 3:156548977:A:T | V96D | 1.000 |
| 3:156555030:G:C | F20L | 1.000 |
| 3:156555030:G:T | F20L | 1.000 |
| 3:156555032:A:G | F20L | 1.000 |
| 3:156543237:C:T | G175E | 0.999 |
| 3:156544373:G:C | N142K | 0.999 |
| 3:156544373:G:T | N142K | 0.999 |
| 3:156544401:G:T | A133D | 0.999 |
| 3:156544403:T:A | E132D | 0.999 |
| 3:156544403:T:G | E132D | 0.999 |
| 3:156544439:T:A | R120S | 0.999 |
| 3:156544439:T:G | R120S | 0.999 |
| 3:156548913:T:A | K117N | 0.999 |
| 3:156548913:T:G | K117N | 0.999 |
| 3:156548988:C:A | R92S | 0.999 |
| 3:156548988:C:G | R92S | 0.999 |
| 3:156553660:C:A | K85N | 0.999 |
| 3:156553660:C:G | K85N | 0.999 |
| 3:156553662:T:C | K85E | 0.999 |
| 3:156553664:A:G | L84P | 0.999 |
| 3:156553669:A:C | F82L | 0.999 |
| 3:156553669:A:T | F82L | 0.999 |
| 3:156553671:A:G | F82L | 0.999 |
| 3:156553688:G:T | A76E | 0.999 |
| 3:156553708:G:C | S69R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000170005 (3:156545606 G>A), RS1000201899 (3:156556720 G>A), RS1000254328 (3:156556912 C>T), RS1000389941 (3:156544507 G>T), RS1000457369 (3:156550969 G>A), RS1000639588 (3:156550738 T>C), RS1000660182 (3:156553405 A>G), RS1000739567 (3:156546075 A>G), RS1000753763 (3:156552130 A>G), RS1000770356 (3:156547169 TTA>T,TTATA), RS1000850496 (3:156539498 T>C), RS1000958757 (3:156546393 G>A), RS1000971300 (3:156547529 C>A,T), RS1001239392 (3:156541144 G>A), RS1001304017 (3:156539747 C>T)
Disease associations
OMIM: gene MIM:606213 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital disorder of glycosylation | Moderate | Autosomal recessive |
Mondo (1): congenital disorder of glycosylation (MONDO:0015286)
Orphanet (1): Congenital disorder of glycosylation (Orphanet:137)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004713_16 | Testicular germ cell tumor | 7.000000e-09 |
| GCST007576_384 | Chronotype | 6.000000e-08 |
| GCST007799_13 | Asthma (adult onset) | 4.000000e-06 |
| GCST009391_117 | Metabolite levels | 5.000000e-06 |
| GCST010725_61 | Malaria | 1.000000e-06 |
| GCST010725_81 | Malaria | 6.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:1002011 | adult onset asthma |
| EFO:0010354 | diacylglycerol 36:1 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018981 | Congenital Disorders of Glycosylation | C16.320.565.202.125; C18.452.648.202.125 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067174 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.30 | Kd | 50.5 | nM | CHEMBL5653589 |
| 7.30 | ED50 | 50.5 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149499: Binding affinity to human SSR3 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0505 | uM |
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects methylation, decreases expression, affects cotreatment | 5 |
| Cyclosporine | increases expression | 4 |
| Valproic Acid | affects expression, increases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| lead acetate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| ochratoxin A | affects cotreatment, decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Aspirin | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Citrinin | affects cotreatment, decreases expression | 1 |
| Clozapine | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652541 | Binding | Binding affinity to human SSR3 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
9 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07572825 | PHASE1 | NOT_YET_RECRUITING | Assessing the Safety and Tolerability of NMN in DHDDS-CDG |
| NCT02089789 | Not specified | RECRUITING | Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation |
| NCT02503267 | Not specified | UNKNOWN | Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects |
| NCT02955264 | Not specified | COMPLETED | Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation |
| NCT03250728 | Not specified | COMPLETED | Role of the Endothelium in Stroke-like Episode Among CDG Patients |
| NCT03560570 | Not specified | COMPLETED | Study of Hemostasis in Patients With Congenital Disorder of Glycosylation |
| NCT04198987 | Not specified | COMPLETED | Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation |
| NCT04199000 | Not specified | RECRUITING | Clinical and Basic Investigations Into Congenital Disorders of Glycosylation |
| NCT04201067 | Not specified | COMPLETED | Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism |
Related Atlas pages
- Associated diseases: congenital disorder of glycosylation
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital disorder of glycosylation, testicular germ cell tumor