SRP14
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Also known as ALURBPMGC14326
Summary
SRP14 (signal recognition particle 14, HGNC:11299) is a protein-coding gene on chromosome 15q22, encoding Signal recognition particle 14 kDa protein (P37108). Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER). It is a common-essential gene (DepMap: required in 94.9% of cancer cell lines).
Enables RNA binding activity. Involved in protein targeting to ER. Located in nucleus. Part of signal recognition particle, endoplasmic reticulum targeting.
Source: NCBI Gene 6727 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 23 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 94.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_003134
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11299 |
| Approved symbol | SRP14 |
| Name | signal recognition particle 14 |
| Location | 15q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ALURBP, MGC14326 |
| Ensembl gene | ENSG00000140319 |
| Ensembl biotype | protein_coding |
| OMIM | 600708 |
| Entrez | 6727 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000267884, ENST00000558243, ENST00000558527, ENST00000558720, ENST00000559081, ENST00000559439, ENST00000559475, ENST00000560773, ENST00000922618, ENST00000922619
RefSeq mRNA: 2 — MANE Select: NM_003134
NM_001309434, NM_003134
CCDS: CCDS42017
Canonical transcript exons
ENST00000267884 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001099638 | 40035690 | 40036500 |
| ENSE00001099640 | 40039093 | 40039181 |
| ENSE00003535495 | 40038282 | 40038394 |
| ENSE00003546861 | 40038876 | 40038948 |
| ENSE00003611911 | 40036986 | 40037018 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 341.0138 / max 5274.0314, expressed in 1828 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 149471 | 268.9032 | 1828 |
| 149470 | 70.5147 | 1815 |
| 149469 | 1.5959 | 1023 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal medulla | UBERON:0000362 | 99.79 | gold quality |
| pons | UBERON:0000988 | 99.76 | gold quality |
| pericardium | UBERON:0002407 | 99.72 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.72 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.72 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.70 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.70 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.70 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.68 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.68 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 99.68 | gold quality |
| thymus | UBERON:0002370 | 99.67 | gold quality |
| urethra | UBERON:0000057 | 99.66 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.66 | gold quality |
| caput epididymis | UBERON:0004358 | 99.65 | gold quality |
| pylorus | UBERON:0001166 | 99.64 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.64 | gold quality |
| mammary duct | UBERON:0001765 | 99.63 | gold quality |
| olfactory bulb | UBERON:0002264 | 99.63 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.63 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.62 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 99.62 | gold quality |
| parotid gland | UBERON:0001831 | 99.62 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.61 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.61 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.60 | gold quality |
| parietal lobe | UBERON:0001872 | 99.59 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.59 | gold quality |
| synovial joint | UBERON:0002217 | 99.59 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.59 | gold quality |
Single-cell (SCXA)
Detected in 26 experiment(s), a significant marker in 17.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 7559.47 |
| E-MTAB-8322 | yes | 4170.82 |
| E-HCAD-4 | yes | 62.14 |
| E-HCAD-11 | yes | 43.58 |
| E-HCAD-1 | yes | 32.91 |
| E-MTAB-8410 | yes | 32.78 |
| E-CURD-46 | yes | 31.93 |
| E-MTAB-6701 | yes | 27.40 |
| E-GEOD-84465 | yes | 22.91 |
| E-MTAB-9467 | yes | 14.87 |
| E-MTAB-10042 | yes | 13.56 |
| E-HCAD-25 | yes | 9.01 |
| E-MTAB-9801 | yes | 6.05 |
| E-CURD-122 | yes | 5.87 |
| E-CURD-88 | yes | 5.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting SRP14, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-4777-5P | 99.33 | 67.53 | 1148 |
| HSA-MIR-1244 | 99.33 | 68.38 | 832 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-3945 | 98.68 | 64.21 | 553 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-548S | 98.50 | 67.17 | 1213 |
| HSA-MIR-4662A-5P | 98.48 | 67.18 | 1007 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 94.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 4)
- SRP14 mutant proteins with absence of a peptide elongation delay caused inefficient targeting of preproteins leading to defects in secretion, depletion of proteins in the endogenous membranes, and reduced cell growth. (PMID:18455985)
- mutational study on SRP9/14 that identified and characterized regions and single residues essential for elongation arrest activity (PMID:20348448)
- Dats show that Alu RNA promotes functional binding of Signal Recognition Particle proteins SRP9/14 to 40S ribosomal subunits. (PMID:25697503)
- Expression of signal recognition particle 14 in hepatocellular carcinoma and its relationship with disease progression and patient survival. (PMID:39183055)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | srp14 | ENSDARG00000115987 |
| mus_musculus | Srp14 | ENSMUSG00000009549 |
| rattus_norvegicus | Srp14 | ENSRNOG00000007512 |
| rattus_norvegicus | AABR07068253.1 | ENSRNOG00000022614 |
| caenorhabditis_elegans | WBGENE00017800 |
Protein
Protein identifiers
Signal recognition particle 14 kDa protein — P37108 (reviewed: P37108)
Alternative names: 18 kDa Alu RNA-binding protein
All UniProt accessions (3): P37108, H0YLA2, H0YLW0
UniProt curated annotations — full annotation on UniProt →
Function. Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER). SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding.
Subunit / interactions. Heterodimer with SRP9; binds RNA as heterodimer. Component of a signal recognition particle (SRP) complex that consists of a 7SL RNA molecule of 300 nucleotides and six protein subunits: SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9.
Subcellular location. Cytoplasm.
Similarity. Belongs to the SRP14 family.
RefSeq proteins (2): NP_001296363, NP_003125* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003210 | Signal_recog_particle_SRP14 | Family |
| IPR009018 | Signal_recog_particle_SRP9/14 | Homologous_superfamily |
Pfam: PF02290
UniProt features (18 total): sequence variant 6, strand 4, helix 2, initiator methionine 1, chain 1, sequence conflict 1, turn 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5AOX | X-RAY DIFFRACTION | 2.04 |
| 1E8O | X-RAY DIFFRACTION | 3.2 |
| 7NFX | ELECTRON MICROSCOPY | 3.2 |
| 4UYK | X-RAY DIFFRACTION | 3.22 |
| 4UYJ | X-RAY DIFFRACTION | 3.35 |
| 1E8S | X-RAY DIFFRACTION | 4 |
| 1RY1 | ELECTRON MICROSCOPY | 12 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P37108-F1 | 77.38 | 0.49 |
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 (1): 27
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-72766 | Translation |
MSigDB gene sets: 160 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, MORF_SNRP70, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MORF_HDAC1, GOBP_PROTEIN_TARGETING, HSIAO_HOUSEKEEPING_GENES, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MODULE_503, MORF_SKP1A, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, MODULE_195, MORF_CCNI
GO Biological Process (3): cotranslational protein targeting to membrane (GO:0006613), SRP-dependent cotranslational protein targeting to membrane (GO:0006614), protein targeting to ER (GO:0045047)
GO Molecular Function (4): RNA binding (GO:0003723), 7S RNA binding (GO:0008312), endoplasmic reticulum signal sequence receptor activity (GO:0030942), protein binding (GO:0005515)
GO Cellular Component (9): extracellular region (GO:0005576), nucleus (GO:0005634), cytoplasm (GO:0005737), signal recognition particle, endoplasmic reticulum targeting (GO:0005786), cytosol (GO:0005829), secretory granule lumen (GO:0034774), ficolin-1-rich granule lumen (GO:1904813), signal recognition particle (GO:0048500), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Translation | 1 |
| Innate Immune System | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| protein targeting to membrane | 1 |
| translation | 1 |
| cotranslational protein targeting to membrane | 1 |
| protein targeting to ER | 1 |
| protein targeting | 1 |
| establishment of protein localization to endoplasmic reticulum | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| signal sequence receptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| signal recognition particle | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle lumen | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| ribonucleoprotein complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2231 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SRP14 | SRP72 | O76094 | 999 |
| SRP14 | SRP19 | P09132 | 999 |
| SRP14 | SRP54 | P13624 | 999 |
| SRP14 | SRP9 | P49458 | 999 |
| SRP14 | SRP68 | Q9UHB9 | 999 |
| SRP14 | SRPRB | Q9Y5M8 | 678 |
| SRP14 | SRPRA | P08240 | 649 |
| SRP14 | RPL23A | P29316 | 633 |
| SRP14 | SZRD1 | Q7Z422 | 532 |
| SRP14 | SPCS2 | Q15005 | 528 |
| SRP14 | SEC61A1 | P38378 | 503 |
| SRP14 | SEC63 | Q9UGP8 | 453 |
| SRP14 | TMEM179 | Q6ZVK1 | 430 |
| SRP14 | TRIM25 | Q14258 | 428 |
| SRP14 | PYROXD1 | Q8WU10 | 425 |
IntAct
228 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SRP9 | SRP14 | psi-mi:“MI:0915”(physical association) | 0.890 |
| SRP14 | SRP9 | psi-mi:“MI:0915”(physical association) | 0.890 |
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| SRP9 | SRP72 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SRP14 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| SRP14 | SRP9 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| DDX31 | SRP14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRP14 | SPANXN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRP14 | EAF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| KLC2 | KIF5B | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX31 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| SRP68 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
BioGRID (475): SRP14 (Affinity Capture-MS), SRP14 (Affinity Capture-MS), SRP14 (Affinity Capture-MS), SRP14 (Affinity Capture-MS), SRP14 (Affinity Capture-MS), SRP14 (Affinity Capture-MS), SRP14 (Affinity Capture-MS), SRP14 (Affinity Capture-MS), NIFK (Co-fractionation), NOLC1 (Co-fractionation), SRP14 (Co-fractionation), SRP14 (Co-fractionation), SRP14 (Co-fractionation), SRP68 (Co-fractionation), SRP72 (Co-fractionation)
ESM2 similar proteins: A1XQU3, A1XQU5, G1SE28, G1SKF7, G1SZ12, G1TXF6, O65743, O94776, P21533, P37108, P38666, P47911, P50888, P50914, P55844, P61122, P61353, P61354, P61355, P61356, P61357, P61358, P83731, P83732, Q02878, Q2YGT9, Q3T0U2, Q42347, Q4R5C7, Q4R8Z4, Q58DQ3, Q63507, Q66WF5, Q6QMZ4, Q6Y263, Q862I1, Q8BP67, Q8ISQ3, Q8JGR4, Q90YQ0
Diamond homologs: A6QQL9, O04421, O04433, O16927, O18881, P16254, P16255, P37108, Q4R5C7, Q556L1, Q5RBX7, Q9P372
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 138 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of innate immune response | 6 | 25.3× | 1e-04 |
| mRNA processing | 9 | 5.9× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
648 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:40036496:TAAGC:T | acceptor_gain | 1.0000 |
| 15:40036497:AAGC:A | acceptor_gain | 1.0000 |
| 15:40036498:AGC:A | acceptor_gain | 1.0000 |
| 15:40036499:GC:G | acceptor_gain | 1.0000 |
| 15:40036499:GCC:G | acceptor_loss | 1.0000 |
| 15:40036500:CC:C | acceptor_gain | 1.0000 |
| 15:40036501:C:CC | acceptor_gain | 1.0000 |
| 15:40036501:C:CG | acceptor_loss | 1.0000 |
| 15:40036502:T:G | acceptor_loss | 1.0000 |
| 15:40037015:TCAC:T | acceptor_gain | 1.0000 |
| 15:40037016:CAC:C | acceptor_gain | 1.0000 |
| 15:40037016:CACC:C | acceptor_gain | 1.0000 |
| 15:40037018:CCTG:C | acceptor_loss | 1.0000 |
| 15:40038280:A:AC | donor_gain | 1.0000 |
| 15:40038281:C:CC | donor_gain | 1.0000 |
| 15:40038281:CCA:C | donor_gain | 1.0000 |
| 15:40038281:CCACA:C | donor_gain | 1.0000 |
| 15:40038870:GCTTA:G | donor_loss | 1.0000 |
| 15:40038871:CTTAC:C | donor_loss | 1.0000 |
| 15:40038873:TACAC:T | donor_loss | 1.0000 |
| 15:40038874:A:AC | donor_gain | 1.0000 |
| 15:40038874:A:T | donor_loss | 1.0000 |
| 15:40038875:C:CA | donor_loss | 1.0000 |
| 15:40038875:C:CC | donor_gain | 1.0000 |
| 15:40038875:CA:C | donor_gain | 1.0000 |
| 15:40038875:CACTT:C | donor_gain | 1.0000 |
| 15:40038879:T:TA | donor_gain | 1.0000 |
| 15:40038949:C:CC | acceptor_gain | 1.0000 |
| 15:40036508:A:AC | acceptor_gain | 0.9900 |
| 15:40036978:AAACT:A | donor_loss | 0.9900 |
AlphaMissense
876 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:40036459:C:A | K95N | 1.000 |
| 15:40036459:C:G | K95N | 1.000 |
| 15:40036463:A:G | L94P | 1.000 |
| 15:40036480:T:A | R88S | 1.000 |
| 15:40036480:T:G | R88S | 1.000 |
| 15:40036487:A:G | L86P | 1.000 |
| 15:40036992:A:C | F79L | 1.000 |
| 15:40036992:A:T | F79L | 1.000 |
| 15:40036993:A:G | F79S | 1.000 |
| 15:40036994:A:G | F79L | 1.000 |
| 15:40038313:G:T | A60D | 1.000 |
| 15:40038315:T:A | R59S | 1.000 |
| 15:40038315:T:G | R59S | 1.000 |
| 15:40038316:C:A | R59I | 1.000 |
| 15:40038316:C:G | R59T | 1.000 |
| 15:40038322:A:G | L57P | 1.000 |
| 15:40038322:A:T | L57Q | 1.000 |
| 15:40038324:A:C | C56W | 1.000 |
| 15:40038326:A:G | C56R | 1.000 |
| 15:40038880:C:A | K31N | 1.000 |
| 15:40038880:C:G | K31N | 1.000 |
| 15:40038896:A:T | V26D | 1.000 |
| 15:40038926:A:G | L16P | 1.000 |
| 15:40038935:A:G | L13P | 1.000 |
| 15:40038946:G:C | F9L | 1.000 |
| 15:40038946:G:T | F9L | 1.000 |
| 15:40038947:A:G | F9S | 1.000 |
| 15:40038948:A:G | F9L | 1.000 |
| 15:40036456:C:A | K96N | 0.999 |
| 15:40036456:C:G | K96N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000550258 (15:40039699 C>A,T), RS1001391436 (15:40039996 A>G), RS1001654700 (15:40040283 A>G), RS1002036696 (15:40040261 A>G), RS1002152936 (15:40035499 A>C), RS1002184074 (15:40035766 A>T), RS1003152837 (15:40036825 T>C), RS1003182293 (15:40037105 G>A), RS1003556703 (15:40036100 T>C), RS1004158196 (15:40038207 G>A), RS1004189276 (15:40038529 C>A,G), RS1005236158 (15:40039590 A>C,G), RS1005614869 (15:40039306 G>A,C,T), RS1006083736 (15:40035468 A>T), RS1006204914 (15:40040896 G>C)
Disease associations
OMIM: gene MIM:600708 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001407_2 | Ewing sarcoma | 7.000000e-09 |
| GCST001762_806 | Obesity-related traits | 2.000000e-06 |
| GCST90002405_381 | Reticulocyte count | 7.000000e-11 |
| GCST90002406_383 | Reticulocyte fraction of red cells | 2.000000e-14 |
| GCST90011898_38 | Alanine aminotransferase levels | 1.000000e-17 |
| GCST90011899_39 | Aspartate aminotransferase levels | 2.000000e-17 |
| GCST90013405_136 | Liver enzyme levels (alanine transaminase) | 1.000000e-23 |
| GCST90020028_1879 | Hip circumference adjusted for BMI | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725081 (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 |
|---|---|---|---|---|
| 5.45 | Kd | 3593 | nM | CHEMBL5653589 |
| 5.45 | ED50 | 3593 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 10 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 | 2149483: Binding affinity to human SRP14 incubated for 45 mins by Kinobead based pull down assay | kd | 3.5933 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression, affects cotreatment | 3 |
| arsenite | affects binding, increases reaction, decreases methylation | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| methylparaben | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| artenimol | affects binding | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | affects expression | 1 |
| abrine | decreases expression | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carmustine | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenolsulfonphthalein | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652525 | Binding | Binding affinity to human SRP14 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 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3I4 | Abcam HEK293T SRP14 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Ewing sarcoma