CSAD
gene geneOn this page
Also known as CSADCPCAPCSD
Summary
CSAD (cysteine sulfinic acid decarboxylase, HGNC:18966) is a protein-coding gene on chromosome 12q13.13, encoding Cysteine sulfinic acid decarboxylase (Q9Y600). Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively.
This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 51380 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 104 total
- MANE Select transcript:
NM_001244705
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18966 |
| Approved symbol | CSAD |
| Name | cysteine sulfinic acid decarboxylase |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CSADC, PCAP, CSD |
| Ensembl gene | ENSG00000139631 |
| Ensembl biotype | protein_coding |
| OMIM | 616569 |
| Entrez | 51380 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 31 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000267085, ENST00000379846, ENST00000379850, ENST00000424845, ENST00000424990, ENST00000437073, ENST00000444623, ENST00000453446, ENST00000454442, ENST00000461392, ENST00000472908, ENST00000475890, ENST00000483632, ENST00000485004, ENST00000490589, ENST00000490923, ENST00000491654, ENST00000498635, ENST00000548698, ENST00000885695, ENST00000885696, ENST00000885697, ENST00000885698, ENST00000885699, ENST00000885700, ENST00000885701, ENST00000885702, ENST00000885703, ENST00000943677, ENST00000943678, ENST00000943679, ENST00000943680, ENST00000943681, ENST00000943682, ENST00000943683, ENST00000943684, ENST00000943685, ENST00000943686, ENST00000943687, ENST00000943688, ENST00000943689
RefSeq mRNA: 3 — MANE Select: NM_001244705
NM_001244705, NM_001244706, NM_015989
CCDS: CCDS58235, CCDS8848
Canonical transcript exons
ENST00000444623 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001338252 | 53180732 | 53180925 |
| ENSE00001785251 | 53179102 | 53179142 |
| ENSE00001913209 | 53157663 | 53158684 |
| ENSE00003463051 | 53172346 | 53172436 |
| ENSE00003495409 | 53159623 | 53159712 |
| ENSE00003497571 | 53161127 | 53161191 |
| ENSE00003503589 | 53161273 | 53161389 |
| ENSE00003516757 | 53170072 | 53170126 |
| ENSE00003541373 | 53160120 | 53160319 |
| ENSE00003560294 | 53171882 | 53171988 |
| ENSE00003570312 | 53172522 | 53172648 |
| ENSE00003591127 | 53160763 | 53160844 |
| ENSE00003611504 | 53171326 | 53171441 |
| ENSE00003652284 | 53159887 | 53159938 |
| ENSE00003652892 | 53173728 | 53173770 |
| ENSE00003659168 | 53170423 | 53170502 |
| ENSE00003675020 | 53173345 | 53173476 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 98.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4827 / max 235.7852, expressed in 1781 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131207 | 5.3508 | 1415 |
| 131208 | 3.3988 | 1252 |
| 131210 | 2.2197 | 800 |
| 131205 | 1.0602 | 633 |
| 131206 | 1.0321 | 501 |
| 131209 | 0.2739 | 84 |
| 131204 | 0.0732 | 8 |
| 131202 | 0.0537 | 7 |
| 131203 | 0.0204 | 8 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.21 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.68 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.66 | gold quality |
| left ovary | UBERON:0002119 | 97.58 | gold quality |
| omental fat pad | UBERON:0010414 | 97.55 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.52 | gold quality |
| peritoneum | UBERON:0002358 | 97.50 | gold quality |
| endocervix | UBERON:0000458 | 97.45 | gold quality |
| right ovary | UBERON:0002118 | 97.44 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 97.42 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.40 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.38 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.28 | gold quality |
| peripheral nervous system | UBERON:0000010 | 97.20 | gold quality |
| nerve | UBERON:0001021 | 97.20 | gold quality |
| tibial nerve | UBERON:0001323 | 97.20 | gold quality |
| ectocervix | UBERON:0012249 | 97.02 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.71 | gold quality |
| body of pancreas | UBERON:0001150 | 96.64 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.58 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.49 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.48 | gold quality |
| body of uterus | UBERON:0009853 | 96.48 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.38 | gold quality |
| apex of heart | UBERON:0002098 | 96.37 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.34 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.30 | gold quality |
| skin of leg | UBERON:0001511 | 96.24 | gold quality |
| ascending aorta | UBERON:0001496 | 96.17 | gold quality |
| adipose tissue | UBERON:0001013 | 96.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting CSAD, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
Literature-anchored findings (GeneRIF, showing 2)
- The presence of cysteine inhibited ADC, CSAD and GDC activity. (PMID:22718265)
- taurine biosynthesis in vertebrates involves two structurally related PLP-dependent decarboxylases (cysteine sulfinic acid decarboxylase and glutamic acid decarboxylase like 1) (PMID:26327310)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | csad | ENSDARG00000026348 |
| mus_musculus | Csad | ENSMUSG00000023044 |
| rattus_norvegicus | Csad | ENSRNOG00000011573 |
| drosophila_melanogaster | b | FBGN0000153 |
Paralogs (7): GAD1 (ENSG00000128683), DDC (ENSG00000132437), GAD2 (ENSG00000136750), HDC (ENSG00000140287), GADL1 (ENSG00000144644), SGPL1 (ENSG00000166224), PDXDC1 (ENSG00000179889)
Protein
Protein identifiers
Cysteine sulfinic acid decarboxylase — Q9Y600 (reviewed: Q9Y600)
Alternative names: Aspartate 1-decarboxylase, Cysteine-sulfinate decarboxylase, Sulfinoalanine decarboxylase
All UniProt accessions (9): Q9Y600, C9JTU8, E9PFW9, F6XLJ2, F8VV11, F8WCW3, H3BQ59, H3BTP4, J3KPG9
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3-sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate.
Subunit / interactions. Homodimer.
Tissue specificity. Expressed in liver and brain. Also expressed in both astrocytes and neurons, but lower levels are expressed in astrocytes.
Pathway. Organosulfur biosynthesis; taurine biosynthesis; hypotaurine from L-cysteine: step 2/2.
Similarity. Belongs to the group II decarboxylase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y600-1 | 1, Long | yes |
| Q9Y600-2 | 2, Short | |
| Q9Y600-3 | 3 |
RefSeq proteins (3): NP_001231634, NP_001231635, NP_057073 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002129 | PyrdxlP-dep_de-COase | Domain |
| IPR015421 | PyrdxlP-dep_Trfase_major | Homologous_superfamily |
| IPR015424 | PyrdxlP-dep_Trfase | Homologous_superfamily |
Pfam: PF00282
Enzyme classification (BRENDA):
- EC 4.1.1.29 — sulfinoalanine decarboxylase (BRENDA: 29 organisms, 27 substrates, 36 inhibitors, 24 Km, 5 kcat entries)
Substrate kinetics (BRENDA)
11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| CYSTEINE SULFINATE | 0.037–0.94 | 5 |
| L-CYSTEIC ACID | 0.22–4 | 3 |
| 3-SULFINO-L-ALANINE | 1.1–1.56 | 2 |
| CYSTEINE SULFINIC ACIDS | 0.18–0.2 | 2 |
| CYSTEINE SULFONATE | 0.536–0.644 | 2 |
| L-CYSTEINE SULFINATE | 1.14–1.16 | 2 |
| L-CYSTEINE SULFINIC ACID | 0.14–2 | 2 |
| ASP | 11 | 1 |
| CYSTEIC ACID | 0.66 | 1 |
| CYSTEINE SULFINIC ACID | 2.07 | 1 |
| GLU | 2.9 | 1 |
Catalyzed reactions (Rhea), 3 shown:
- 3-sulfino-L-alanine + H(+) = hypotaurine + CO2 (RHEA:16877)
- L-aspartate + H(+) = beta-alanine + CO2 (RHEA:19497)
- L-cysteate + H(+) = taurine + CO2 (RHEA:25221)
UniProt features (48 total): helix 24, strand 12, turn 4, sequence conflict 4, splice variant 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2JIS | X-RAY DIFFRACTION | 1.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y600-F1 | 96.67 | 0.97 |
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): 305
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1614558 | Degradation of cysteine and homocysteine |
MSigDB gene sets: 192 (showing top):
RORA1_01, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, AREB6_01, FOXO1_01, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, FOXD3_01, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_SULFUR_COMPOUND_CATABOLIC_PROCESS, YY1_02, KEGG_TAURINE_AND_HYPOTAURINE_METABOLISM, TGCTGAY_UNKNOWN, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, LEE_LIVER_CANCER_DENA_DN
GO Biological Process (4): obsolete L-cysteine catabolic process to hypotaurine (GO:0019449), obsolete taurine biosynthetic process from L-cysteine (GO:0019452), taurine biosynthetic process (GO:0042412), carboxylic acid metabolic process (GO:0019752)
GO Molecular Function (6): aspartate 1-decarboxylase activity (GO:0004068), sulfinoalanine decarboxylase activity (GO:0004782), pyridoxal phosphate binding (GO:0030170), lyase activity (GO:0016829), carbon-carbon lyase activity (GO:0016830), carboxy-lyase activity (GO:0016831)
GO Cellular Component (1): cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Sulfur amino acid metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| carboxy-lyase activity | 2 |
| taurine metabolic process | 1 |
| alkanesulfonate biosynthetic process | 1 |
| oxoacid metabolic process | 1 |
| anion binding | 1 |
| vitamin B6 binding | 1 |
| catalytic activity | 1 |
| lyase activity | 1 |
| carbon-carbon lyase activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2002 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CSAD | CDO1 | P78513 | 826 |
| CSAD | ADO | Q96SZ5 | 709 |
| CSAD | SLC6A6 | P31641 | 684 |
| CSAD | CTH | P32929 | 526 |
| CSAD | ARHGEF15 | O94989 | 521 |
| CSAD | BHMT | Q93088 | 514 |
| CSAD | P0DN79 | P0DN79 | 503 |
| CSAD | H7C2H4 | H7C2H4 | 493 |
| CSAD | NRG2 | O14511 | 457 |
| CSAD | POU6F1 | Q14863 | 450 |
| CSAD | MEOX1 | P50221 | 445 |
| CSAD | SCARF1 | Q14162 | 444 |
| CSAD | MAT1A | Q00266 | 432 |
| CSAD | SEMA3G | Q9NS98 | 412 |
| CSAD | MTR | Q99707 | 399 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSAD | SH2B1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| SH2B1 | CSAD | psi-mi:“MI:0915”(physical association) | 0.490 |
| BMP2K | CSAD | psi-mi:“MI:0915”(physical association) | 0.490 |
| CSAD | ANXA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ANXA7 | CSAD | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDKN1A | CSAD | psi-mi:“MI:0915”(physical association) | 0.370 |
| CSAD | GSK3B | psi-mi:“MI:0915”(physical association) | 0.370 |
| CSAD | NR1H2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CSAD | PIN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RAP1B | CSAD | psi-mi:“MI:0915”(physical association) | 0.370 |
| CSAD | RCC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMN1 | CSAD | psi-mi:“MI:0915”(physical association) | 0.370 |
| CSAD | TK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (19): CSAD (Affinity Capture-RNA), CSAD (Synthetic Growth Defect), CSAD (Two-hybrid), CSAD (Proximity Label-MS), CSAD (Affinity Capture-MS), CSAD (Affinity Capture-MS), CSAD (Positive Genetic), CSAD (Affinity Capture-RNA), CSAD (Affinity Capture-RNA), CSAD (Two-hybrid), CSAD (Two-hybrid), CSAD (Two-hybrid), CSAD (Two-hybrid), CSAD (Two-hybrid), CSAD (Two-hybrid)
ESM2 similar proteins: A0A2H5AIY0, A0A2H5AIY2, A0A2I6B3P0, A0AA51Z3J4, A0PA85, A6QM00, A8XKT0, I1RV23, O88533, O96567, P05031, P14173, P14748, P16453, P17770, P18088, P18486, P20228, P20711, P22781, P27718, P48318, P48319, P48320, P48321, P48861, P54769, P54770, P93082, P93083, Q05329, Q05683, Q06086, Q06087, Q06088, Q0VCA1, Q0ZQX0, Q16S21, Q18953, Q28D99
Diamond homologs: A0A0A2IDH4, A0A2I6B3P0, A0A481NV25, A7B1V0, I0DFJ0, I1RV23, P93082, P93083, Q06085, Q06086, Q06087, Q06088, Q0ZS27, Q2FSD2, Q5E6F9, Q60358, Q6ZJK7, Q9Y600, Q9Z3R1, A0PA85, A2STQ3, A6QM00, E9FCP7, P14748, P18088, P20228, P48318, P48319, P48320, P48321, Q05329, Q05683, Q0VCA1, Q28D99, Q4PRC2, Q5IS68, Q5R7S7, Q64611, Q6ZQY3, Q80WP8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CSAD | “down-regulates quantity” | L-aspartate(1-) | “chemical modification” |
| CSAD | “up-regulates quantity” | “beta-alanine zwitterion” | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2757 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:53158680:GCCAC:G | acceptor_gain | 1.0000 |
| 12:53158681:CCAC:C | acceptor_gain | 1.0000 |
| 12:53158681:CCACC:C | acceptor_gain | 1.0000 |
| 12:53158682:CAC:C | acceptor_gain | 1.0000 |
| 12:53158682:CACC:C | acceptor_gain | 1.0000 |
| 12:53158683:AC:A | acceptor_gain | 1.0000 |
| 12:53158683:ACCT:A | acceptor_loss | 1.0000 |
| 12:53158684:CC:C | acceptor_gain | 1.0000 |
| 12:53158685:C:CA | acceptor_loss | 1.0000 |
| 12:53158685:C:CC | acceptor_gain | 1.0000 |
| 12:53158686:T:A | acceptor_loss | 1.0000 |
| 12:53159687:C:CT | acceptor_gain | 1.0000 |
| 12:53159688:A:T | acceptor_gain | 1.0000 |
| 12:53159708:TCAGG:T | acceptor_gain | 1.0000 |
| 12:53159709:CAGG:C | acceptor_gain | 1.0000 |
| 12:53159709:CAGGC:C | acceptor_gain | 1.0000 |
| 12:53159710:AGG:A | acceptor_gain | 1.0000 |
| 12:53159711:GG:G | acceptor_gain | 1.0000 |
| 12:53159712:GCTG:G | acceptor_loss | 1.0000 |
| 12:53159713:C:CC | acceptor_gain | 1.0000 |
| 12:53159714:T:C | acceptor_loss | 1.0000 |
| 12:53159722:A:AC | acceptor_gain | 1.0000 |
| 12:53159881:TCCTA:T | donor_loss | 1.0000 |
| 12:53159882:CCTA:C | donor_loss | 1.0000 |
| 12:53159883:CTACC:C | donor_loss | 1.0000 |
| 12:53159884:TACC:T | donor_loss | 1.0000 |
| 12:53159939:CTGTG:C | acceptor_loss | 1.0000 |
| 12:53160115:CCTA:C | donor_loss | 1.0000 |
| 12:53160116:CTA:C | donor_loss | 1.0000 |
| 12:53160117:TAC:T | donor_loss | 1.0000 |
AlphaMissense
3204 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:53160275:G:C | F337L | 0.998 |
| 12:53160275:G:T | F337L | 0.998 |
| 12:53160277:A:G | F337L | 0.998 |
| 12:53160276:A:G | F337S | 0.996 |
| 12:53172348:G:C | S114R | 0.996 |
| 12:53172348:G:T | S114R | 0.996 |
| 12:53172350:T:G | S114R | 0.996 |
| 12:53160244:C:G | D348H | 0.995 |
| 12:53160276:A:C | F337C | 0.994 |
| 12:53160277:A:T | F337I | 0.994 |
| 12:53160828:A:G | W301R | 0.994 |
| 12:53160828:A:T | W301R | 0.994 |
| 12:53172423:G:C | F89L | 0.994 |
| 12:53172423:G:T | F89L | 0.994 |
| 12:53172425:A:G | F89L | 0.994 |
| 12:53160277:A:C | F337V | 0.993 |
| 12:53161370:A:T | V241D | 0.993 |
| 12:53171950:T:A | E128V | 0.993 |
| 12:53160190:A:G | W366R | 0.992 |
| 12:53160190:A:T | W366R | 0.992 |
| 12:53160220:A:G | C356R | 0.992 |
| 12:53160243:T:A | D348V | 0.992 |
| 12:53160279:A:T | L336H | 0.992 |
| 12:53170497:G:C | H191Q | 0.992 |
| 12:53170497:G:T | H191Q | 0.992 |
| 12:53170499:G:C | H191D | 0.992 |
| 12:53171339:A:G | F185S | 0.992 |
| 12:53171405:G:T | A163D | 0.992 |
| 12:53171972:C:G | A121P | 0.992 |
| 12:53160214:G:T | R358S | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000085610 (12:53181394 G>A,C), RS1000291424 (12:53157652 T>G), RS1000395353 (12:53163409 C>G,T), RS1000441325 (12:53174795 A>T), RS1000794573 (12:53168663 A>G), RS1000846807 (12:53168392 T>C), RS1001057649 (12:53168299 G>A), RS1001223179 (12:53162786 G>C), RS1001405942 (12:53173941 C>A,T), RS1001457751 (12:53171299 A>G), RS1001508681 (12:53171013 G>A), RS1001716566 (12:53163022 T>C,G), RS1001856855 (12:53179963 G>A,C), RS1001867909 (12:53173234 A>C,T), RS1001960776 (12:53159175 A>C)
Disease associations
OMIM: gene MIM:616569 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_263 | Obesity-related traits | 2.000000e-06 |
| GCST007433_7 | Fulminant type 1 diabetes | 8.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005000 | leptin measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, decreases methylation, increases expression | 2 |
| bisphenol A | decreases expression, affects cotreatment | 2 |
| Air Pollutants | increases expression, affects expression, increases abundance | 2 |
| Arsenic | decreases expression, increases abundance, affects methylation, affects cotreatment | 2 |
| Dexamethasone | increases expression, affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | affects methylation, decreases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| Particulate Matter | increases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| entinostat | increases expression | 1 |
| candoxin | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Indomethacin | increases expression, affects cotreatment, decreases expression | 1 |
| Lead | increases 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_B1PC | Abcam HeLa CSAD KO | Cancer cell line | Female |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma