SP2
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Also known as KIAA0048
Summary
SP2 (Sp2 transcription factor, HGNC:11207) is a protein-coding gene on chromosome 17q21.32, encoding Transcription factor Sp2 (Q02086). Binds to GC box promoters elements and selectively activates mRNA synthesis from genes that contain functional recognition sites. It is a selective cancer dependency (DepMap: 12.7% of cell lines).
This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters.
Source: NCBI Gene 6668 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 82 total
- Cancer dependency (DepMap): dependent in 12.7% of screened cell lines
- Transcription factor: yes — 26 downstream targets (CollecTRI)
- MANE Select transcript:
NM_003110
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11207 |
| Approved symbol | SP2 |
| Name | Sp2 transcription factor |
| Location | 17q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0048 |
| Ensembl gene | ENSG00000167182 |
| Ensembl biotype | protein_coding |
| OMIM | 601801 |
| Entrez | 6668 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000376741, ENST00000635868, ENST00000637314, ENST00000637943, ENST00000642065, ENST00000884861, ENST00000884862, ENST00000884863
RefSeq mRNA: 1 — MANE Select: NM_003110
NM_003110
CCDS: CCDS11521
Canonical transcript exons
ENST00000376741 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000812563 | 47925348 | 47925541 |
| ENSE00000947318 | 47924919 | 47925093 |
| ENSE00001137543 | 47922962 | 47923274 |
| ENSE00001194271 | 47927724 | 47928957 |
| ENSE00001413539 | 47916156 | 47917130 |
| ENSE00002449690 | 47915312 | 47915388 |
| ENSE00002729406 | 47896236 | 47896293 |
Expression profiles
Bgee: expression breadth ubiquitous, 271 present calls, max score 92.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1494 / max 105.9616, expressed in 1786 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161386 | 14.9545 | 1784 |
| 161387 | 0.1949 | 73 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 92.17 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.16 | gold quality |
| granulocyte | CL:0000094 | 88.27 | gold quality |
| right testis | UBERON:0004534 | 88.01 | gold quality |
| left testis | UBERON:0004533 | 87.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.99 | gold quality |
| popliteal artery | UBERON:0002250 | 86.95 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.94 | gold quality |
| tibial artery | UBERON:0007610 | 86.94 | gold quality |
| oocyte | CL:0000023 | 86.92 | gold quality |
| leukocyte | CL:0000738 | 86.82 | gold quality |
| monocyte | CL:0000576 | 86.68 | gold quality |
| mononuclear cell | CL:0000842 | 86.65 | gold quality |
| muscle of leg | UBERON:0001383 | 86.53 | gold quality |
| blood | UBERON:0000178 | 86.21 | gold quality |
| endometrium epithelium | UBERON:0004811 | 86.01 | gold quality |
| aorta | UBERON:0000947 | 85.97 | gold quality |
| synovial joint | UBERON:0002217 | 85.93 | gold quality |
| right coronary artery | UBERON:0001625 | 85.67 | gold quality |
| testis | UBERON:0000473 | 85.63 | gold quality |
| right lung | UBERON:0002167 | 85.52 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.38 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 85.36 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 85.35 | gold quality |
| left uterine tube | UBERON:0001303 | 85.29 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.25 | gold quality |
| thymus | UBERON:0002370 | 85.19 | gold quality |
| parotid gland | UBERON:0001831 | 85.00 | silver quality |
| penis | UBERON:0000989 | 84.90 | gold quality |
| heart left ventricle | UBERON:0002084 | 84.83 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.58 |
| E-GEOD-100618 | no | 67.08 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
26 targets.
| Target | Regulation |
|---|---|
| ALOX15B | |
| CCND1 | Unknown |
| CD14 | Unknown |
| CDKN1A | Unknown |
| CDKN2A | |
| CEACAM1 | Repression |
| CTSL | Unknown |
| DHFR | Activation |
| DNMT3A | Activation |
| DNMT3B | Activation |
| HBB | |
| HSD17B2 | Repression |
| KLK3 | |
| MAT2A | Unknown |
| MIR638 | |
| MMP9 | Repression |
| NFATC2 | Unknown |
| NFKB | |
| PAPSS1 | |
| PAPSS2 | Unknown |
| PCYT1A | Repression |
| POLD1 | |
| SOCS1 | |
| SP1 | |
| TFAP2A | |
| TSC1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0516.1 | SP2 | Three-zinc finger Kruppel-related |
| MA0516.2 | SP2 | Three-zinc finger Kruppel-related |
| MA0516.3 | SP2 | Three-zinc finger Kruppel-related |
JASPAR matrix evidence (PMIDs): PMID:22684502, PMID:14726517
Upstream regulators (CollecTRI, top): NFKB, SP1, TFAP2A
miRNA regulators (miRDB)
83 targeting SP2, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 12.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 11)
- has an intimate part in transcriptional regulation of the lh receptor gene. (PMID:15788387)
- an SP2/KLF6 repression complex by SHP is required for farnesoid X receptor-induced endothelial cell migration (PMID:17071613)
- Despite the absence of Sp2 in the 5’-upstream sequence of the human promoter, silencing of Sp2 by RNA interference clearly demonstrated that Sp2 is required for IFN-gamma-induced regulation of socs1 mRNA both in human and mouse. (PMID:19482358)
- Data show that three Sp1 motifs located between -148 and -42bp upstream of the first exon were important in basic as well as in DA-induced NSMase2 promoter activity. (PMID:19698806)
- Sp2 is up-regulated in gastric cancer tissues (PMID:24623314)
- O-GlcNAc modification of Sp3 and Sp4, but not Sp2 transcription factors negatively regulates their transcriptional activities. (PMID:26431879)
- This study presented that a Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer’s Disease. (PMID:27128372)
- SP2 recognized binding motifs in the human RORgammaT promoter, which was critical for maintaining expression. SP2 was necessary for maximum IL-17 expression in in vitro-differentiated Th17 cells. SP 2 plays a role in Th17-dependent physiologic and pathologic immune responses. (PMID:27256574)
- Sp2 promotes invasion and metastasis of hepatocellular carcinoma by targeting TRIB3 protein. (PMID:32160655)
- Transcription Factor SP2 Regulates Ski-mediated Astrocyte Proliferation In Vitro. (PMID:34687796)
- Transcription factor Sp2 promotes TGFB-mediated interstitial cell osteogenic differentiation in bicuspid aortic valves through a SMAD-dependent pathway. (PMID:34914964)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sp2 | ENSDARG00000076763 |
| mus_musculus | Sp2 | ENSMUSG00000018678 |
| rattus_norvegicus | Sp2 | ENSRNOG00000010492 |
Paralogs (3): SP4 (ENSG00000105866), SP3 (ENSG00000172845), SP1 (ENSG00000185591)
Protein
Protein identifiers
Transcription factor Sp2 — Q02086 (reviewed: Q02086)
All UniProt accessions (5): A0A1B0GTK3, A0A1B0GV29, A0A1B0GVH1, A0A286YFJ7, Q02086
UniProt curated annotations — full annotation on UniProt →
Function. Binds to GC box promoters elements and selectively activates mRNA synthesis from genes that contain functional recognition sites.
Subcellular location. Nucleus.
Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. In SP2, the motif is inactive.
Similarity. Belongs to the Sp1 C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q02086-1 | 1 | yes |
| Q02086-2 | 2 |
RefSeq proteins (1): NP_003101* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (13 total): zinc finger region 3, compositionally biased region 3, region of interest 3, chain 1, modified residue 1, splice variant 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q02086-F1 | 45.39 | 0.00 |
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): 78
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 140 (showing top):
CCAWYNNGAAR_UNKNOWN, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, GGAMTNNNNNTCCY_UNKNOWN, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GCM_RING1, ACATTCC_MIR1_MIR206, MORF_PPP6C, RYTTCCTG_ETS2_B, ACTTTAT_MIR1425P, CUI_TCF21_TARGETS_2_DN, ACEVEDO_LIVER_CANCER_UP, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, TGCCTTA_MIR124A, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), immune response (GO:0006955)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), histone deacetylase binding (GO:0042826), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): chromatin (GO:0000785), nucleoplasm (GO:0005654), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transition metal ion binding | 1 |
| enzyme binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
576 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SP2 | POLRMT | O00411 | 694 |
| SP2 | TFB2M | Q9H5Q4 | 677 |
| SP2 | MTERF1 | Q99551 | 657 |
| SP2 | TEFM | Q96QE5 | 583 |
| SP2 | TFB1M | Q8WVM0 | 582 |
| SP2 | TFAM | Q00059 | 580 |
| SP2 | MT-ND6 | P03923 | 542 |
| SP2 | E2F1 | Q01094 | 450 |
| SP2 | MTERF3 | Q96E29 | 432 |
| SP2 | FANCD2OS | Q96PS1 | 414 |
| SP2 | MT-CO1 | P00395 | 400 |
| SP2 | MT-ND5 | P03915 | 386 |
| SP2 | WAC | Q9BTA9 | 385 |
| SP2 | ELAC2 | Q9BQ52 | 379 |
| SP2 | ZNF263 | O14978 | 375 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BANP | SP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FHL2 | SP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SP2 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SP2 | BANP | psi-mi:“MI:0915”(physical association) | 0.670 |
| MCM7 | SP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SP2 | MCM7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| VWCE | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| SOX2 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| SP1 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| SP2 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF1B | MAP3K7 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| KLF15 | ZNF292 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SRF | ZNF292 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ELF4 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ELK3 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FEV | TAF4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NFYC | ASDURF | psi-mi:“MI:2364”(proximity) | 0.270 |
| GPKOW | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PPIL4 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZRANB2 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NPM1 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (53): SP2 (Two-hybrid), SP2 (Two-hybrid), BANP (Two-hybrid), SP2 (Two-hybrid), SP2 (Two-hybrid), SP2 (Affinity Capture-MS), SP2 (Affinity Capture-MS), SP2 (Affinity Capture-MS), SP2 (Two-hybrid), SP2 (Two-hybrid), SP2 (Two-hybrid), SP2 (Two-hybrid), BANP (Two-hybrid), QRICH1 (Two-hybrid), SP2 (Affinity Capture-Western)
ESM2 similar proteins: A1Z9E2, B0R0I6, B5DE69, G5ED89, O94842, P25425, P32519, P34333, P34447, Q02086, Q08CM4, Q09XV5, Q0IHV2, Q0P5K4, Q0V9U1, Q15723, Q28BL7, Q3TUF7, Q571G4, Q5E9U0, Q5F3U0, Q5R6A9, Q5RBN8, Q5RCV7, Q60775, Q641Z1, Q6DJM6, Q6IQU7, Q6MZP7, Q7Z589, Q7ZUV7, Q7ZX03, Q86NP2, Q8AYC1, Q8BIH0, Q8BMB0, Q8BU11, Q8CHI8, Q8IRW8, Q8WNV2
Diamond homologs: A5ABV9, B5DE03, B7ZSG3, O08584, O08876, O14901, O35738, O35819, O43474, O62259, O62651, O70494, O75840, O89090, O89091, O95600, P08047, P0CG40, P19544, P22561, P46099, P49952, P49953, P50902, P57682, P58334, P79958, Q01714, Q02086, Q02446, Q02447, Q0VA40, Q13118, Q13351, Q13887, Q14V87, Q19A40, Q19A41, Q22678, Q24266
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SP2 | “up-regulates activity” | IRF1 | binding |
| SP2 | “down-regulates quantity by repression” | PCYT1A | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1499 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:47896272:G:T | donor_gain | 1.0000 |
| 17:47896275:G:GT | donor_gain | 1.0000 |
| 17:47896291:GCG:G | donor_gain | 1.0000 |
| 17:47896343:G:GT | donor_gain | 1.0000 |
| 17:47897794:A:AG | acceptor_gain | 1.0000 |
| 17:47897795:A:G | acceptor_gain | 1.0000 |
| 17:47914836:GAT:G | donor_gain | 1.0000 |
| 17:47922956:TCCCA:T | acceptor_loss | 1.0000 |
| 17:47922957:CCCA:C | acceptor_loss | 1.0000 |
| 17:47922958:CCAG:C | acceptor_loss | 1.0000 |
| 17:47922959:CAG:C | acceptor_loss | 1.0000 |
| 17:47922960:AGG:A | acceptor_loss | 1.0000 |
| 17:47922961:G:GT | acceptor_loss | 1.0000 |
| 17:47923231:TGTCC:T | donor_gain | 1.0000 |
| 17:47923272:GCG:G | donor_gain | 1.0000 |
| 17:47924908:T:A | acceptor_gain | 1.0000 |
| 17:47924915:ACAG:A | acceptor_gain | 1.0000 |
| 17:47924915:ACAGG:A | acceptor_gain | 1.0000 |
| 17:47924916:C:G | acceptor_gain | 1.0000 |
| 17:47924917:A:AG | acceptor_gain | 1.0000 |
| 17:47924917:A:C | acceptor_loss | 1.0000 |
| 17:47924917:AG:A | acceptor_gain | 1.0000 |
| 17:47924917:AGG:A | acceptor_gain | 1.0000 |
| 17:47924918:G:A | acceptor_gain | 1.0000 |
| 17:47924918:G:GG | acceptor_gain | 1.0000 |
| 17:47924918:GGG:G | acceptor_gain | 1.0000 |
| 17:47924918:GGGC:G | acceptor_gain | 1.0000 |
| 17:47924918:GGGCA:G | acceptor_gain | 1.0000 |
| 17:47925089:AAGAG:A | donor_loss | 1.0000 |
| 17:47925090:AGAGG:A | donor_loss | 1.0000 |
AlphaMissense
3990 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:47925379:T:A | C527S | 1.000 |
| 17:47925379:T:C | C527R | 1.000 |
| 17:47925380:G:A | C527Y | 1.000 |
| 17:47925380:G:C | C527S | 1.000 |
| 17:47925381:C:G | C527W | 1.000 |
| 17:47925394:T:A | C532S | 1.000 |
| 17:47925394:T:C | C532R | 1.000 |
| 17:47925395:G:A | C532Y | 1.000 |
| 17:47925395:G:C | C532S | 1.000 |
| 17:47925396:T:G | C532W | 1.000 |
| 17:47925406:T:C | F536L | 1.000 |
| 17:47925407:T:C | F536S | 1.000 |
| 17:47925408:C:A | F536L | 1.000 |
| 17:47925408:C:G | F536L | 1.000 |
| 17:47925425:T:C | L542P | 1.000 |
| 17:47925463:T:C | F555L | 1.000 |
| 17:47925465:T:A | F555L | 1.000 |
| 17:47925465:T:G | F555L | 1.000 |
| 17:47925469:T:C | C557R | 1.000 |
| 17:47925470:G:A | C557Y | 1.000 |
| 17:47925471:C:G | C557W | 1.000 |
| 17:47925484:T:C | C562R | 1.000 |
| 17:47925485:G:A | C562Y | 1.000 |
| 17:47925486:T:G | C562W | 1.000 |
| 17:47925496:T:C | F566L | 1.000 |
| 17:47925497:T:C | F566S | 1.000 |
| 17:47925498:C:A | F566L | 1.000 |
| 17:47925498:C:G | F566L | 1.000 |
| 17:47925515:T:C | L572P | 1.000 |
| 17:47925525:T:A | H575Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000097487 (17:47907147 A>G), RS1000160162 (17:47928874 A>G), RS1000206700 (17:47924371 A>G), RS1000243325 (17:47907140 T>A,C), RS1000289321 (17:47895435 G>A,C), RS1000475640 (17:47926678 T>C), RS1000501187 (17:47895927 G>A), RS1000941023 (17:47913560 T>G), RS1000952242 (17:47913924 A>G), RS1000976505 (17:47920932 C>T), RS1001186601 (17:47913571 C>T), RS1001222480 (17:47906663 C>T), RS1001248237 (17:47906828 G>A), RS1001299627 (17:47906247 A>G), RS1001439079 (17:47906994 C>A,T)
Disease associations
OMIM: gene MIM:601801 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005146_34 | Birth weight | 3.000000e-09 |
| GCST005951_17 | Body mass index | 3.000000e-09 |
| GCST006075_22 | Hair color | 4.000000e-90 |
| GCST006988_22 | Blond vs. brown/black hair color | 9.000000e-16 |
| GCST011457_21 | Asthma with severe exacerbations | 8.000000e-07 |
| GCST90002409_45 | Childhood body mass index | 8.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004344 | birth weight |
| EFO:0004340 | body mass index |
| EFO:0003924 | hair color |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| tanshinone | decreases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Chlorodiphenyl (54% Chlorine) | increases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HC93 | HEK293 eGFP-SP2 | 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): asthma