SLC12A8
gene geneOn this page
Also known as CCC9
Summary
SLC12A8 (solute carrier family 12 member 8, HGNC:15595) is a protein-coding gene on chromosome 3q21.2, encoding Solute carrier family 12 member 8 (A0AV02). Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.
This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Source: NCBI Gene 84561 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 160 total
- MANE Select transcript:
NM_024628
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15595 |
| Approved symbol | SLC12A8 |
| Name | solute carrier family 12 member 8 |
| Location | 3q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CCC9 |
| Ensembl gene | ENSG00000221955 |
| Ensembl biotype | protein_coding |
| OMIM | 611316 |
| Entrez | 84561 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 21 protein_coding, 8 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000393469, ENST00000430155, ENST00000461616, ENST00000462437, ENST00000465475, ENST00000465777, ENST00000469902, ENST00000473262, ENST00000479231, ENST00000479352, ENST00000479826, ENST00000481760, ENST00000483944, ENST00000485849, ENST00000485954, ENST00000495105, ENST00000895735, ENST00000895736, ENST00000895737, ENST00000895738, ENST00000895739, ENST00000895740, ENST00000931086, ENST00000931087, ENST00000931088, ENST00000931089, ENST00000931090, ENST00000931091, ENST00000931092, ENST00000931093, ENST00000931094, ENST00000931095
RefSeq mRNA: 2 — MANE Select: NM_024628
NM_001195483, NM_024628
CCDS: CCDS43143
Canonical transcript exons
ENST00000469902 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001515423 | 125212700 | 125212748 |
| ENSE00001903729 | 125082644 | 125084052 |
| ENSE00003499982 | 125135669 | 125135782 |
| ENSE00003525270 | 125190375 | 125190521 |
| ENSE00003545186 | 125092101 | 125092198 |
| ENSE00003546662 | 125211299 | 125211394 |
| ENSE00003549557 | 125177743 | 125177974 |
| ENSE00003554076 | 125107481 | 125108126 |
| ENSE00003555054 | 125118769 | 125118856 |
| ENSE00003558175 | 125088310 | 125088370 |
| ENSE00003577119 | 125120599 | 125120686 |
| ENSE00003609659 | 125110189 | 125110335 |
| ENSE00003617424 | 125091439 | 125091556 |
| ENSE00003633999 | 125187237 | 125187428 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 92.60.
FANTOM5 (CAGE): breadth broad, TPM avg 2.6079 / max 131.6791, expressed in 604 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44288 | 1.0019 | 299 |
| 44290 | 0.5983 | 182 |
| 44287 | 0.3816 | 156 |
| 44289 | 0.2531 | 141 |
| 44276 | 0.0960 | 20 |
| 44286 | 0.0650 | 29 |
| 44285 | 0.0513 | 20 |
| 44277 | 0.0500 | 17 |
| 44284 | 0.0426 | 23 |
| 44278 | 0.0326 | 6 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 92.60 | gold quality |
| thyroid gland | UBERON:0002046 | 91.31 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.24 | gold quality |
| oocyte | CL:0000023 | 88.35 | gold quality |
| parotid gland | UBERON:0001831 | 88.02 | gold quality |
| periodontal ligament | UBERON:0008266 | 86.92 | gold quality |
| gall bladder | UBERON:0002110 | 86.41 | gold quality |
| decidua | UBERON:0002450 | 86.02 | gold quality |
| secondary oocyte | CL:0000655 | 84.28 | gold quality |
| body of pancreas | UBERON:0001150 | 83.11 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 81.24 | gold quality |
| pancreatic ductal cell | CL:0002079 | 81.02 | silver quality |
| pancreas | UBERON:0001264 | 80.58 | gold quality |
| endothelial cell | CL:0000115 | 80.26 | silver quality |
| minor salivary gland | UBERON:0001830 | 80.18 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 80.13 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.72 | silver quality |
| mouth mucosa | UBERON:0003729 | 79.56 | gold quality |
| gingival epithelium | UBERON:0001949 | 79.38 | gold quality |
| gingiva | UBERON:0001828 | 78.30 | gold quality |
| rectum | UBERON:0001052 | 78.20 | gold quality |
| islet of Langerhans | UBERON:0000006 | 77.70 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 77.59 | gold quality |
| buccal mucosa cell | CL:0002336 | 77.53 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.44 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 77.40 | gold quality |
| right lobe of liver | UBERON:0001114 | 76.96 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 76.83 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 75.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.74 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 300.87 |
| E-ANND-3 | yes | 6.27 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
76 targeting SLC12A8, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
Literature-anchored findings (GeneRIF, showing 7)
- Maps to 3q21. Associated with suseptibility to psoriasis (PMID:11863360)
- SLC12A8 is a susceptibility locus for psoriasis vulgaris. (PMID:16297188)
- Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport. (PMID:19472210)
- Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter’s, Gitleman’s, and Andermann’s syndromes). (PMID:23325410)
- Solute carrier family 12 member 8 (SLC12A8) is a potential biomarker and related to tumor immune cell infiltration in bladder cancer. (PMID:34365894)
- SLC12A8 mediates TKI resistance in EGFR-mutant lung cancer via PDK1/AKT axis. (PMID:37725242)
- [SLC12A8 promotes proliferation, invasiveness, migration and epithelial-mesenchymal transition of bladder cancer cells by activating JAK/STAT singaling]. (PMID:37814877)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc12a8 | ENSDARG00000074384 |
| mus_musculus | Slc12a8 | ENSMUSG00000035506 |
| rattus_norvegicus | Slc12a8 | ENSRNOG00000001792 |
| drosophila_melanogaster | CG12773 | FBGN0024365 |
| caenorhabditis_elegans | WBGENE00017350 |
Paralogs (8): SLC12A2 (ENSG00000064651), SLC12A3 (ENSG00000070915), SLC12A1 (ENSG00000074803), SLC12A7 (ENSG00000113504), SLC12A4 (ENSG00000124067), SLC12A5 (ENSG00000124140), SLC12A6 (ENSG00000140199), SLC12A9 (ENSG00000146828)
Protein
Protein identifiers
Solute carrier family 12 member 8 — A0AV02 (reviewed: A0AV02)
Alternative names: Cation-chloride cotransporter 9
All UniProt accessions (4): A0AV02, C9IZN2, H7C5B1, H7C5L2
UniProt curated annotations — full annotation on UniProt →
Function. Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.
Subcellular location. Membrane.
Tissue specificity. Ubiquitous with very low level in normal skin.
Disease relevance. SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5).
Similarity. Belongs to the SLC12A transporter family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A0AV02-1 | 1 | yes |
| A0AV02-2 | 2 | |
| A0AV02-3 | 3 | |
| A0AV02-4 | 4 | |
| A0AV02-5 | 5 |
RefSeq proteins (2): NP_001182412, NP_078904* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004841 | AA-permease/SLC12A_dom | Domain |
| IPR004842 | SLC12A_fam | Family |
Pfam: PF00324
UniProt features (36 total): transmembrane region 13, sequence conflict 7, splice variant 6, sequence variant 5, region of interest 2, chain 1, compositionally biased region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A0AV02-F1 | 68.50 | 0.22 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 221
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 173 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GOBP_POTASSIUM_ION_HOMEOSTASIS, GOBP_INORGANIC_ANION_TRANSPORT, CAGCTG_AP4_Q5, GGCNKCCATNK_UNKNOWN, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_CHLORIDE_TRANSPORT, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, RIGGI_EWING_SARCOMA_PROGENITOR_DN, GOBP_MONOATOMIC_ANION_HOMEOSTASIS, GOBP_REGULATION_OF_CELL_SIZE, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_MONOATOMIC_ION_HOMEOSTASIS
GO Biological Process (8): cell volume homeostasis (GO:0006884), chloride ion homeostasis (GO:0055064), potassium ion homeostasis (GO:0055075), chloride transmembrane transport (GO:1902476), potassium ion import across plasma membrane (GO:1990573), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), transmembrane transport (GO:0055085)
GO Molecular Function (4): potassium:chloride symporter activity (GO:0015379), protein binding (GO:0005515), symporter activity (GO:0015293), chloride:monoatomic cation symporter activity (GO:0015377)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| inorganic ion homeostasis | 2 |
| transport | 2 |
| regulation of cell size | 1 |
| cellular homeostasis | 1 |
| monoatomic anion homeostasis | 1 |
| monoatomic cation homeostasis | 1 |
| chloride transport | 1 |
| monoatomic anion transmembrane transport | 1 |
| potassium ion transmembrane transport | 1 |
| inorganic cation import across plasma membrane | 1 |
| metal ion transport | 1 |
| cellular process | 1 |
| potassium ion transmembrane transporter activity | 1 |
| chloride:monoatomic cation symporter activity | 1 |
| binding | 1 |
| secondary active transmembrane transporter activity | 1 |
| chloride transmembrane transporter activity | 1 |
| monoatomic anion:monoatomic cation symporter activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
860 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC12A8 | CSTA | P01040 | 958 |
| SLC12A8 | NMRK1 | Q9NWW6 | 614 |
| SLC12A8 | BST1 | Q10588 | 605 |
| SLC12A8 | NMNAT1 | Q9HAN9 | 594 |
| SLC12A8 | A0A2R8YFG2 | A0A2R8YFG2 | 564 |
| SLC12A8 | NAPRT | Q6XQN6 | 504 |
| SLC12A8 | MTFR1L | Q9H019 | 486 |
| SLC12A8 | NAMPT | P43490 | 461 |
| SLC12A8 | TATDN2 | Q93075 | 440 |
| SLC12A8 | SLC25A51 | Q9H1U9 | 422 |
| SLC12A8 | CD38 | P28907 | 413 |
| SLC12A8 | SLC26A9 | Q7LBE3 | 378 |
| SLC12A8 | NMNAT2 | Q9BZQ4 | 377 |
| SLC12A8 | FBXL19 | Q6PCT2 | 372 |
| SLC12A8 | MUC13 | Q9H3R2 | 357 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC12A8 | PAX6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC12A8 | SLC27A3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC12A8 | E6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CRY1 | IGKV2D-30 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC12A8 | NGEF | psi-mi:“MI:0914”(association) | 0.350 |
| C5AR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC12A8 | ATE1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC12A8 | PAX6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (20): NGEF (Affinity Capture-MS), SLC12A8 (Two-hybrid), SLC12A8 (Two-hybrid), NGEF (Affinity Capture-MS), EPS8L2 (Affinity Capture-MS), SLC12A8 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC12A8 (Affinity Capture-MS), SLC12A8 (Affinity Capture-MS), SLC12A8 (Affinity Capture-MS), ACAA2 (Affinity Capture-MS), ANKRD27 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), RFWD2 (Affinity Capture-MS), CPT1A (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2K1Q8, A0AV02, A2A6C4, A5D7L5, A6QNW6, B1MTL0, B2RXE2, C1BKZ7, O18917, P04920, P0DX17, P13808, P16283, P23347, P23348, P35523, P35524, P48746, P48751, P58295, Q0P5V9, Q14940, Q15043, Q15477, Q3MJ16, Q504Y0, Q50L42, Q5FWH7, Q5RB85, Q5RD44, Q64347, Q6A4L1, Q6SJP2, Q761V0, Q8BXR1, Q8CJI3, Q8K0H7, Q8R420, Q8VI23, Q91WD2
Diamond homologs: A0A0G2KTI4, A0AV02, A2BFP5, P38329, P55011, P55012, P55013, P55014, P55015, P55016, P55017, P55018, P55019, P59158, Q13621, Q25479, Q6A4L1, Q8CJI3, Q8VI23, Q9BXP2, O60146, Q2UVJ5, Q657W3, Q66HR0, Q99MR3, Q0VGW6, Q28677, Q5RK27, Q63632, Q63633, Q6Z0E2, Q7YRU6, Q91V14, Q924N4, Q9H2X9, Q9JIS8, Q9UHW9, Q9UP95, Q9WVL3, Q9Y666
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
160 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 121 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2627 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:125084048:AGCTC:A | acceptor_gain | 1.0000 |
| 3:125084050:CTC:C | acceptor_gain | 1.0000 |
| 3:125084051:TC:T | acceptor_gain | 1.0000 |
| 3:125084052:CC:C | acceptor_gain | 1.0000 |
| 3:125091437:A:AC | donor_gain | 1.0000 |
| 3:125091438:C:CC | donor_gain | 1.0000 |
| 3:125092300:AG:A | donor_gain | 1.0000 |
| 3:125107476:CTCA:C | donor_loss | 1.0000 |
| 3:125107477:TCA:T | donor_loss | 1.0000 |
| 3:125107478:CA:C | donor_loss | 1.0000 |
| 3:125107479:A:AC | donor_gain | 1.0000 |
| 3:125107479:A:AT | donor_loss | 1.0000 |
| 3:125107480:C:CC | donor_gain | 1.0000 |
| 3:125107480:CCTT:C | donor_gain | 1.0000 |
| 3:125108122:CCCTT:C | acceptor_gain | 1.0000 |
| 3:125108123:CCTTC:C | acceptor_gain | 1.0000 |
| 3:125110183:ACTC:A | donor_loss | 1.0000 |
| 3:125110185:TCAC:T | donor_loss | 1.0000 |
| 3:125110186:CACCC:C | donor_loss | 1.0000 |
| 3:125110187:A:C | donor_loss | 1.0000 |
| 3:125110187:AC:A | donor_gain | 1.0000 |
| 3:125110187:ACC:A | donor_gain | 1.0000 |
| 3:125110187:ACCC:A | donor_gain | 1.0000 |
| 3:125110188:CC:C | donor_gain | 1.0000 |
| 3:125110188:CCC:C | donor_gain | 1.0000 |
| 3:125110188:CCCC:C | donor_gain | 1.0000 |
| 3:125110306:C:CT | acceptor_gain | 1.0000 |
| 3:125110306:C:T | acceptor_gain | 1.0000 |
| 3:125118765:TCA:T | donor_loss | 1.0000 |
| 3:125118766:CA:C | donor_loss | 1.0000 |
AlphaMissense
4633 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:125120611:G:T | A271D | 0.997 |
| 3:125120686:C:T | G246E | 0.997 |
| 3:125135669:C:G | G246R | 0.997 |
| 3:125135669:C:T | G246R | 0.997 |
| 3:125110305:C:G | G315R | 0.996 |
| 3:125190391:C:G | R61T | 0.996 |
| 3:125190409:C:T | G55E | 0.996 |
| 3:125190426:G:C | C49W | 0.996 |
| 3:125108013:G:C | F391L | 0.995 |
| 3:125108013:G:T | F391L | 0.995 |
| 3:125108015:A:G | F391L | 0.995 |
| 3:125108082:G:C | S368R | 0.995 |
| 3:125108082:G:T | S368R | 0.995 |
| 3:125108084:T:G | S368R | 0.995 |
| 3:125190396:G:C | F59L | 0.995 |
| 3:125190396:G:T | F59L | 0.995 |
| 3:125190398:A:G | F59L | 0.995 |
| 3:125190410:C:G | G55R | 0.995 |
| 3:125190410:C:T | G55R | 0.995 |
| 3:125110244:A:G | L335P | 0.994 |
| 3:125110304:C:T | G315D | 0.994 |
| 3:125120623:C:T | G267D | 0.994 |
| 3:125135674:G:T | A244D | 0.994 |
| 3:125190390:C:A | R61S | 0.994 |
| 3:125190390:C:G | R61S | 0.994 |
| 3:125190391:C:A | R61M | 0.994 |
| 3:125190394:A:G | L60P | 0.994 |
| 3:125190442:C:T | G44D | 0.994 |
| 3:125120624:C:G | G267R | 0.993 |
| 3:125120674:C:T | G250D | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000002896 (3:125212560 T>TGA), RS1000008649 (3:125158146 G>A,T), RS1000020004 (3:125116182 C>A,G), RS1000021584 (3:125203151 A>G), RS1000022434 (3:125130003 G>T), RS1000035613 (3:125168589 G>A), RS1000078921 (3:125197048 A>C), RS1000082992 (3:125204443 C>A), RS1000124624 (3:125182693 G>A,C), RS1000143584 (3:125117506 G>A,T), RS1000149506 (3:125124760 G>A,C), RS1000155635 (3:125182911 C>T), RS1000208662 (3:125181266 C>T), RS1000251460 (3:125141560 G>A,T), RS1000254913 (3:125167515 G>A)
Disease associations
OMIM: gene MIM:611316 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002930_18 | Cobalt levels | 8.000000e-06 |
| GCST003995_16 | Tonsillectomy | 3.000000e-11 |
| GCST005014_117 | Tonsillectomy | 3.000000e-11 |
| GCST008144_2 | Fasting plasma glucose | 8.000000e-06 |
| GCST009379_258 | Type 2 diabetes | 1.000000e-09 |
| GCST010118_26 | Type 2 diabetes | 1.000000e-08 |
| GCST010699_74 | Brain morphology (min-P) | 2.000000e-18 |
| GCST010701_2 | Cortical surface area (MOSTest) | 1.000000e-08 |
| GCST010702_122 | Subcortical volume (MOSTest) | 3.000000e-09 |
| GCST010703_283 | Brain morphology (MOSTest) | 3.000000e-15 |
| GCST90002385_436 | High light scatter reticulocyte count | 2.000000e-12 |
| GCST90002386_559 | High light scatter reticulocyte percentage of red cells | 6.000000e-12 |
| GCST90002397_661 | Mean spheric corpuscular volume | 6.000000e-16 |
| GCST90002405_24 | Reticulocyte count | 2.000000e-13 |
| GCST90002406_44 | Reticulocyte fraction of red cells | 2.000000e-12 |
| GCST90011898_149 | Alanine aminotransferase levels | 5.000000e-09 |
| GCST90026413_15 | Severe insulin-deficient type 2 diabetes | 2.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs651630 | Toxicity | 3 | Tumor necrosis factor alpha (TNF-alpha) inhibitors | Psoriasis |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs651630 | SLC12A8 | 3 | 2.50 | 1 | Tumor necrosis factor alpha (TNF-alpha) inhibitors |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC12 family of cation-coupled chloride transporters
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 4 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| sodium arsenite | increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| Cisplatin | affects cotreatment, increases expression, decreases expression | 2 |
| Estradiol | decreases expression, increases expression | 2 |
| Cadmium Chloride | increases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| chloroacetaldehyde | affects expression | 1 |
| lead acetate | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Cidofovir | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4HS | HCT116-SLC12A8-KO-c4 | Cancer cell line | Male |
| CVCL_D4HT | HCT116-SLC12A8-KO-c5 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.