ZNF512
geneOn this page
Also known as KIAA1805
Summary
ZNF512 (zinc finger protein 512, HGNC:29380) is a protein-coding gene on chromosome 2p23.3, encoding Zinc finger protein 512 (Q96ME7). Sequence-specific DNA-binding protein that recognizes repetitive and non-consecutive TTC sequences in pericentric repeat and initiates heterochromatin formation through interaction with SUV39H1/2 methyltransferases which catalyze histone H3K9 methylation.
This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene.
Source: NCBI Gene 84450 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 67 total
- MANE Select transcript:
NM_032434
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29380 |
| Approved symbol | ZNF512 |
| Name | zinc finger protein 512 |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1805 |
| Ensembl gene | ENSG00000243943 |
| Ensembl biotype | protein_coding |
| OMIM | 620921 |
| Entrez | 84450 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000355467, ENST00000379717, ENST00000413371, ENST00000416005, ENST00000461705, ENST00000488055, ENST00000494548, ENST00000556601, ENST00000879762, ENST00000879763, ENST00000937483, ENST00000937484, ENST00000948674
RefSeq mRNA: 6 — MANE Select: NM_032434
NM_001271286, NM_001271287, NM_001271288, NM_001271289, NM_001271318, NM_032434
CCDS: CCDS1758, CCDS59428, CCDS59429
Canonical transcript exons
ENST00000355467 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000963018 | 27600691 | 27600815 |
| ENSE00003463012 | 27607845 | 27608039 |
| ENSE00003502538 | 27598067 | 27598254 |
| ENSE00003509846 | 27616262 | 27616324 |
| ENSE00003511102 | 27601356 | 27601442 |
| ENSE00003514025 | 27602463 | 27602561 |
| ENSE00003514964 | 27617473 | 27617571 |
| ENSE00003573781 | 27615168 | 27615269 |
| ENSE00003637863 | 27583658 | 27583716 |
| ENSE00003650236 | 27603140 | 27603307 |
| ENSE00003715179 | 27599583 | 27599678 |
| ENSE00003733227 | 27599970 | 27600053 |
| ENSE00003841385 | 27621153 | 27623217 |
| ENSE00003842873 | 27583042 | 27583142 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 95.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1890 / max 1516.1399, expressed in 1778 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 19380 | 16.1353 | 1776 |
| 19379 | 0.7257 | 409 |
| 19381 | 0.3120 | 118 |
| 19382 | 0.0159 | 2 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 95.79 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.73 | gold quality |
| ventricular zone | UBERON:0003053 | 93.60 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.39 | gold quality |
| left ovary | UBERON:0002119 | 92.94 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.65 | silver quality |
| right ovary | UBERON:0002118 | 92.61 | gold quality |
| ovary | UBERON:0000992 | 92.30 | gold quality |
| body of uterus | UBERON:0009853 | 92.00 | gold quality |
| endocervix | UBERON:0000458 | 91.90 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.74 | gold quality |
| cauda epididymis | UBERON:0004360 | 91.49 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.47 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.46 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.32 | gold quality |
| popliteal artery | UBERON:0002250 | 90.77 | gold quality |
| tibial artery | UBERON:0007610 | 90.77 | gold quality |
| sural nerve | UBERON:0015488 | 90.73 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.66 | silver quality |
| caput epididymis | UBERON:0004358 | 90.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.57 | gold quality |
| right uterine tube | UBERON:0001302 | 90.52 | gold quality |
| right coronary artery | UBERON:0001625 | 90.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.22 | gold quality |
| aorta | UBERON:0000947 | 90.12 | gold quality |
| tibial nerve | UBERON:0001323 | 90.11 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.09 | gold quality |
| lymph node | UBERON:0000029 | 89.93 | gold quality |
| thyroid gland | UBERON:0002046 | 89.92 | gold quality |
| left uterine tube | UBERON:0001303 | 89.86 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 542.85 |
| E-ANND-3 | yes | 3.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
111 targeting ZNF512, 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-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
Literature-anchored findings (GeneRIF, showing 2)
- MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be risk or protect factors in prognosis of ADC; HTR2B, DPP4, and TGFBRAP1 genes may be risk factors in prognosis of SQC. (PMID:27301951)
- risk (C) allele of the SNP (rs2275294) in the ZNF512B gene, cervical flexor muscle power and body weight index might have clinical potential for amyotrophic lateral sclerosis prognostication (PMID:30567526)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf512 | ENSDARG00000041910 |
| mus_musculus | Zfp512 | ENSMUSG00000062761 |
| rattus_norvegicus | Zfp512 | ENSRNOG00000039815 |
| drosophila_melanogaster | Vajk3 | FBGN0028544 |
| drosophila_melanogaster | Vajk2 | FBGN0032538 |
| drosophila_melanogaster | nahoda | FBGN0034797 |
| drosophila_melanogaster | Vajk4 | FBGN0050101 |
| caenorhabditis_elegans | WBGENE00007479 |
Paralogs (2): GGN (ENSG00000179168), ZNF512B (ENSG00000196700)
Protein
Protein identifiers
Zinc finger protein 512 — Q96ME7 (reviewed: Q96ME7)
All UniProt accessions (2): Q96ME7, G3XAG1
UniProt curated annotations — full annotation on UniProt →
Function. Sequence-specific DNA-binding protein that recognizes repetitive and non-consecutive TTC sequences in pericentric repeat and initiates heterochromatin formation through interaction with SUV39H1/2 methyltransferases which catalyze histone H3K9 methylation.
Subunit / interactions. Interacts with SUV39H1 and SUV39H2; this interaction initiates heterochromatin formation.
Subcellular location. Chromosome. Nucleus.
Domain organisation. Has an atypical organization of its zinc-fingers, with long linkers separating them, providing flexibility for recognizing non-consecutive 3-nucleotide triplets targeted by each zinc finger.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96ME7-1 | 1 | yes |
| Q96ME7-2 | 2 | |
| Q96ME7-3 | 3 |
RefSeq proteins (6): NP_001258215, NP_001258216, NP_001258217, NP_001258218, NP_001258247, NP_115810* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR048403 | ZNF512_znf-C2H2 | Domain |
| IPR048408 | ZNF512_C2HC | Domain |
| IPR052274 | Krueppel_C2H2_Zn-finger | Family |
Pfam: PF00096, PF21276, PF21367
UniProt features (27 total): compositionally biased region 5, zinc finger region 4, cross-link 4, splice variant 3, helix 3, region of interest 3, strand 2, chain 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CTD | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96ME7-F1 | 62.76 | 0.02 |
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): 18, 84, 227, 333
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 102 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GCM_GSPT1, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GCM_NUMA1, LASTOWSKA_COAMPLIFIED_WITH_MYCN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MAF_Q6, GCM_NF2, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, AGCTCCT_MIR28, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, NKX3A_01, GCM_RBM8A
GO Biological Process (2): constitutive heterochromatin formation (GO:0140719), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), pericentric heterochromatin (GO:0005721)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| heterochromatin formation | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| chromosome, centromeric region | 1 |
| heterochromatin | 1 |
Protein interactions and networks
STRING
1070 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF512 | SPATA31H1 | Q68DN1 | 766 |
| ZNF512 | CCDC121 | Q6ZUS5 | 729 |
| ZNF512 | ZNF362 | Q5T0B9 | 651 |
| ZNF512 | SDAD1 | Q9NVU7 | 623 |
| ZNF512 | KRTCAP3 | Q53RY4 | 605 |
| ZNF512 | FNDC4 | Q9H6D8 | 594 |
| ZNF512 | NRBP1 | Q9UHY1 | 581 |
| ZNF512 | GPN1 | Q9HCN4 | 578 |
| ZNF512 | C4orf17 | Q53FE4 | 578 |
| ZNF512 | ZNF451 | Q9Y4E5 | 570 |
| ZNF512 | GCKR | Q14397 | 541 |
| ZNF512 | NIPBL | Q6KC79 | 520 |
| ZNF512 | IFT172 | Q9UG01 | 519 |
| ZNF512 | RRP15 | Q9Y3B9 | 519 |
| ZNF512 | SPDYE11 | P0DTA3 | 479 |
IntAct
210 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC2 | KDM1A | psi-mi:“MI:0914”(association) | 0.890 |
| TUBG1 | TUBG1 | psi-mi:“MI:2364”(proximity) | 0.760 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL12 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| KANK2 | ZNF512 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| BCOR | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| RSBN1 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL8 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPF1 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| MED27 | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| MKI67 | ZC3H11A | psi-mi:“MI:0914”(association) | 0.480 |
BioGRID (344): ZNF512 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Proximity Label-MS), ZNF512 (Proximity Label-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Affinity Capture-MS), ZNF512 (Proximity Label-MS), ZNF273 (Affinity Capture-MS), ZNF724P (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GR68, A0JPQ7, A4FV61, F7AQ22, O62666, O62674, O62676, O62678, O75151, O75152, P49140, P53349, P97432, Q13233, Q14596, Q15047, Q1LY51, Q3ZC82, Q4R6F6, Q53F19, Q5F3Z9, Q5R6F3, Q5SUE8, Q5XJV7, Q5ZJJ1, Q60698, Q60974, Q62925, Q69Z61, Q69Z99, Q6AI12, Q6NXK2, Q6PJT7, Q6ZNC4, Q7TMD5, Q80VG1, Q80XA6, Q86XL3, Q8BG81, Q8BJ05
Diamond homologs: A4FV61, Q5R6F3, Q69Z99, Q95JV5, Q96KM6, Q96ME7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 206 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 |
|---|---|---|---|
| Peptide chain elongation | 27 | 24.6× | 1e-28 |
| Viral mRNA Translation | 27 | 24.6× | 1e-28 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 27 | 24.4× | 1e-28 |
| Selenocysteine synthesis | 27 | 23.4× | 3e-28 |
| Eukaryotic Translation Termination | 27 | 23.4× | 3e-28 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 27 | 22.9× | 4e-28 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 27 | 22.9× | 4e-28 |
| Formation of a pool of free 40S subunits | 27 | 21.8× | 1e-27 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 28 | 27.7× | 3e-30 |
| ribosomal large subunit biogenesis | 7 | 16.6× | 4e-05 |
| translation | 29 | 15.9× | 4e-24 |
| ribosomal small subunit biogenesis | 11 | 13.4× | 1e-07 |
| rRNA processing | 16 | 12.1× | 9e-11 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 7.8× | 9e-03 |
| nucleosome assembly | 8 | 6.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2271 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:27583140:GCC:G | donor_gain | 1.0000 |
| 2:27583143:G:GG | donor_gain | 1.0000 |
| 2:27598065:A:AG | acceptor_gain | 1.0000 |
| 2:27598066:G:GG | acceptor_gain | 1.0000 |
| 2:27599568:T:TA | acceptor_gain | 1.0000 |
| 2:27599571:A:AG | acceptor_gain | 1.0000 |
| 2:27599571:AT:A | acceptor_gain | 1.0000 |
| 2:27599571:ATG:A | acceptor_gain | 1.0000 |
| 2:27599572:T:G | acceptor_gain | 1.0000 |
| 2:27599572:T:TA | acceptor_gain | 1.0000 |
| 2:27599573:G:A | acceptor_gain | 1.0000 |
| 2:27599576:A:AG | acceptor_gain | 1.0000 |
| 2:27599577:C:G | acceptor_gain | 1.0000 |
| 2:27599579:TCAG:T | acceptor_loss | 1.0000 |
| 2:27599581:A:AG | acceptor_gain | 1.0000 |
| 2:27599581:AG:A | acceptor_gain | 1.0000 |
| 2:27599581:AGG:A | acceptor_gain | 1.0000 |
| 2:27599582:G:GA | acceptor_gain | 1.0000 |
| 2:27599582:GG:G | acceptor_gain | 1.0000 |
| 2:27599582:GGG:G | acceptor_gain | 1.0000 |
| 2:27599582:GGGT:G | acceptor_gain | 1.0000 |
| 2:27599582:GGGTC:G | acceptor_gain | 1.0000 |
| 2:27599678:GGTAA:G | donor_loss | 1.0000 |
| 2:27599679:G:GG | donor_gain | 1.0000 |
| 2:27599679:GT:G | donor_loss | 1.0000 |
| 2:27599684:G:GT | donor_gain | 1.0000 |
| 2:27600689:A:AG | acceptor_gain | 1.0000 |
| 2:27600690:G:GG | acceptor_gain | 1.0000 |
| 2:27600690:GGCA:G | acceptor_gain | 1.0000 |
| 2:27600811:AGCAG:A | donor_loss | 1.0000 |
AlphaMissense
3726 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:27600744:T:C | C171R | 1.000 |
| 2:27600787:T:C | L185S | 1.000 |
| 2:27615169:T:C | L378S | 1.000 |
| 2:27615174:T:C | Y380H | 1.000 |
| 2:27615174:T:G | Y380D | 1.000 |
| 2:27615222:T:A | W396R | 1.000 |
| 2:27615222:T:C | W396R | 1.000 |
| 2:27615258:T:A | C408S | 1.000 |
| 2:27615258:T:C | C408R | 1.000 |
| 2:27615259:G:C | C408S | 1.000 |
| 2:27615260:T:G | C408W | 1.000 |
| 2:27616265:T:A | C413S | 1.000 |
| 2:27616265:T:C | C413R | 1.000 |
| 2:27616266:G:A | C413Y | 1.000 |
| 2:27616266:G:C | C413S | 1.000 |
| 2:27616296:T:C | L423P | 1.000 |
| 2:27616308:T:C | L427P | 1.000 |
| 2:27616316:T:C | C430R | 1.000 |
| 2:27616317:G:A | C430Y | 1.000 |
| 2:27616318:T:G | C430W | 1.000 |
| 2:27617500:T:A | C442S | 1.000 |
| 2:27617500:T:C | C442R | 1.000 |
| 2:27617501:G:C | C442S | 1.000 |
| 2:27617502:T:G | C442W | 1.000 |
| 2:27617509:T:A | C445S | 1.000 |
| 2:27617509:T:C | C445R | 1.000 |
| 2:27617510:G:A | C445Y | 1.000 |
| 2:27617510:G:C | C445S | 1.000 |
| 2:27617511:T:G | C445W | 1.000 |
| 2:27617521:T:C | F449L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000131716 (2:27585386 A>C,G), RS1000218101 (2:27620190 AATT>A), RS1000298168 (2:27619410 A>AT), RS1000315913 (2:27617738 T>C), RS1000410750 (2:27617067 C>A), RS1000461368 (2:27585852 T>A), RS1000608739 (2:27596656 T>C), RS1000665125 (2:27593070 A>G), RS1000703363 (2:27609972 C>T), RS1000765950 (2:27603432 G>A), RS1000857703 (2:27623440 T>C), RS1000914084 (2:27599469 T>G), RS1000957859 (2:27587278 T>C), RS1001058531 (2:27606383 GAC>G), RS1001064670 (2:27584019 C>T)
Disease associations
OMIM: gene MIM:620921 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001006_4 | Waist Circumference - Triglycerides (WC-TG) | 5.000000e-09 |
| GCST001841_15 | Palmitoleic acid (16:1n-7) levels | 1.000000e-09 |
| GCST001905_4 | Hypertriglyceridemia | 2.000000e-13 |
| GCST003858_1 | Oral cavity cancer | 4.000000e-08 |
| GCST005308_2 | Nonalcoholic fatty liver disease | 1.000000e-06 |
| GCST008103_38 | Bipolar disorder | 1.000000e-07 |
| GCST008985_2 | Triglycerides | 7.000000e-12 |
| GCST008985_3 | Triglycerides | 7.000000e-07 |
| GCST010060_6 | Cholesterol | 3.000000e-08 |
| GCST011320_40 | Type 2 diabetes or prostate cancer (pleiotropy) | 1.000000e-08 |
| GCST90000025_804 | Appendicular lean mass | 5.000000e-13 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000195 | metabolic syndrome |
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 6 |
| GSK-J4 | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Ethanol | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HA03 | K562 eGFP-ZNF512 | Cancer 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): metabolic dysfunction-associated steatotic liver disease, oral cavity cancer