FIBCD1
gene geneOn this page
Also known as FLJ14810
Summary
FIBCD1 (fibrinogen C domain containing 1, HGNC:25922) is a protein-coding gene on chromosome 9q34.12, encoding Fibrinogen C domain-containing protein 1 (Q8N539). Acetyl group-binding receptor which shows a high-affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non-acetylated counterparts.
FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).
Source: NCBI Gene 84929 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 137 total
- Druggable target: yes
- MANE Select transcript:
NM_032843
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25922 |
| Approved symbol | FIBCD1 |
| Name | fibrinogen C domain containing 1 |
| Location | 9q34.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14810 |
| Ensembl gene | ENSG00000130720 |
| Ensembl biotype | protein_coding |
| OMIM | 613357 |
| Entrez | 84929 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 10 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000372337, ENST00000372338, ENST00000444139, ENST00000448616, ENST00000451466, ENST00000463475, ENST00000486250, ENST00000872083, ENST00000872084, ENST00000933855, ENST00000933856, ENST00000933857
RefSeq mRNA: 2 — MANE Select: NM_032843
NM_001145106, NM_032843
CCDS: CCDS6937
Canonical transcript exons
ENST00000372338 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001457570 | 130902440 | 130904323 |
| ENSE00001613459 | 130924237 | 130924396 |
| ENSE00001636266 | 130923744 | 130923880 |
| ENSE00001767299 | 130911792 | 130911888 |
| ENSE00001772617 | 130905234 | 130905413 |
| ENSE00001920779 | 130938536 | 130939247 |
| ENSE00003515123 | 130929567 | 130930046 |
Expression profiles
Bgee: expression breadth ubiquitous, 180 present calls, max score 90.47.
FANTOM5 (CAGE): breadth broad, TPM avg 1.7253 / max 41.7642, expressed in 545 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102808 | 1.0504 | 372 |
| 102807 | 0.3998 | 198 |
| 102806 | 0.2402 | 140 |
| 102805 | 0.0348 | 9 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 90.47 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.30 | gold quality |
| pancreatic ductal cell | CL:0002079 | 82.49 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.28 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.96 | gold quality |
| heart right ventricle | UBERON:0002080 | 80.50 | gold quality |
| adrenal cortex | UBERON:0001235 | 79.71 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.59 | gold quality |
| left testis | UBERON:0004533 | 79.40 | gold quality |
| vena cava | UBERON:0004087 | 79.28 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.27 | gold quality |
| left adrenal gland | UBERON:0001234 | 78.95 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 78.93 | gold quality |
| right testis | UBERON:0004534 | 78.47 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 77.80 | gold quality |
| parotid gland | UBERON:0001831 | 77.57 | gold quality |
| testis | UBERON:0000473 | 77.11 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 76.94 | silver quality |
| oocyte | CL:0000023 | 76.78 | silver quality |
| gingival epithelium | UBERON:0001949 | 76.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.70 | silver quality |
| superficial temporal artery | UBERON:0001614 | 75.06 | gold quality |
| biceps brachii | UBERON:0001507 | 74.28 | silver quality |
| cerebellar vermis | UBERON:0004720 | 74.26 | silver quality |
| gingiva | UBERON:0001828 | 74.05 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 73.98 | gold quality |
| body of tongue | UBERON:0011876 | 73.72 | gold quality |
| adrenal gland | UBERON:0002369 | 73.44 | gold quality |
| upper arm skin | UBERON:0004263 | 73.29 | gold quality |
| Ammon’s horn | UBERON:0001954 | 73.16 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
104 targeting FIBCD1, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
Literature-anchored findings (GeneRIF, showing 10)
- FIBCD1 is a high-affinity receptor for chitin and chitin fragments, and may play an important role in controlling the exposure of intestine to chitin and chitin fragments (PMID:19710473)
- The recognition unit of FIBCD1 organizes into a noncovalently linked tetrameric structure and uses a hydrophobic funnel (S1) for acetyl group recognition. (PMID:19892701)
- The high affinity ligand N-acetylmannosamine (ManNAc) binds FIBCD1 in the S1 site, predominantly via the acetyl group with the oxygen and acetamide nitrogen hydrogen-bonded to the protein and the methyl group inserted into a hydrophobic pocket. (PMID:24293368)
- FIBCD1 is expressed in epithelial cells derived from all three germ layers. Endodermal-derived epithelial cells throughout the gastrointestinal tract and the respiratory system showed high expression of FIBCD1 and also mesodermal-derived cells in the genitourinary system and ectodermal-derived epidermis and sebaceous glands cells expressed FIBCD1. (PMID:29220632)
- FIBCD1 may be a novel biomarker to evaluate the prognosis of gastric cancer. (PMID:29659669)
- thses findings support FIBCD1 as a lung epithelial pattern recognition receptor that recognizes the complex Aspergillus fumigatus cell wall polysaccharides and modulates the lung epithelial inflammatory response by suppressing inflammatory mediators and mucins (PMID:30279687)
- The myokine Fibcd1 is an endogenous determinant of myofiber size and mitigates cancer-induced myofiber atrophy. (PMID:35501350)
- FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder. (PMID:35916241)
- The role of FIBCD1 in response to Aspergillus fumigatus in lung epithelial cells. (PMID:36888604)
- Crystal structures of human immune protein FIBCD1 suggest an extended binding site compatible with recognition of pathogen-associated carbohydrate motifs. (PMID:38072065)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fibcd1b | ENSDARG00000060393 |
| danio_rerio | fibcd1a | ENSDARG00000074640 |
| mus_musculus | Fibcd1 | ENSMUSG00000026841 |
| rattus_norvegicus | Fibcd1 | ENSRNOG00000009735 |
Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), ANGPT4 (ENSG00000101280), FGL1 (ENSG00000104760), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), FGL2 (ENSG00000127951), ANGPTL6 (ENSG00000130812), ANGPTL3 (ENSG00000132855), ANGPTL2 (ENSG00000136859), FCN3 (ENSG00000142748), FNDC7 (ENSG00000143107), ANGPT1 (ENSG00000154188), FCN2 (ENSG00000160339), MFAP4 (ENSG00000166482), ANGPTL4 (ENSG00000167772), TNXB (ENSG00000168477), FGG (ENSG00000171557), FGA (ENSG00000171560), FGB (ENSG00000171564), ANGPTL7 (ENSG00000171819), ANGPTL5 (ENSG00000187151)
Protein
Protein identifiers
Fibrinogen C domain-containing protein 1 — Q8N539 (reviewed: Q8N539)
All UniProt accessions (4): Q8N539, A3KFJ8, H0Y4Y8, X6RDH7
UniProt curated annotations — full annotation on UniProt →
Function. Acetyl group-binding receptor which shows a high-affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non-acetylated counterparts. Can facilitate the endocytosis of acetylated components.
Subunit / interactions. Homotetramer; disulfide-linked.
Subcellular location. Membrane.
Tissue specificity. Expressed in the small and large intestinal epithelial cells with a highly polarized localization to the apical surface corresponding to the brush border and in the ducts of the salivary gland.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N539-1 | 1 | yes |
| Q8N539-2 | 2 |
RefSeq proteins (2): NP_001138578, NP_116232* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002181 | Fibrinogen_a/b/g_C_dom | Domain |
| IPR014716 | Fibrinogen_a/b/g_C_1 | Homologous_superfamily |
| IPR020837 | Fibrinogen_CS | Conserved_site |
| IPR036056 | Fibrinogen-like_C | Homologous_superfamily |
| IPR050373 | Fibrinogen_C-term_domain | Family |
Pfam: PF00147
UniProt features (50 total): strand 14, mutagenesis site 7, helix 7, site 4, splice variant 3, topological domain 2, disulfide bond 2, region of interest 2, binding site 2, chain 1, glycosylation site 1, transmembrane region 1, sequence conflict 1, turn 1, domain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6ZQX | X-RAY DIFFRACTION | 1.84 |
| 6ZQY | X-RAY DIFFRACTION | 1.85 |
| 6ZQR | X-RAY DIFFRACTION | 1.93 |
| 6ZR0 | X-RAY DIFFRACTION | 1.94 |
| 6ZR3 | X-RAY DIFFRACTION | 1.97 |
| 4M7H | X-RAY DIFFRACTION | 2 |
| 6ZR4 | X-RAY DIFFRACTION | 2 |
| 4M7F | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N539-F1 | 80.61 | 0.50 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 405 (implicated in ligand binding); 415 (implicated in ligand binding); 431 (implicated in ligand binding); 432 (implicated in ligand binding)
Ligand- & substrate-binding residues (2): 393; 395
Disulfide bonds (2): 244–273, 401–414
Glycosylation sites (1): 340
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 393 | complete loss of binding to acetylated bovine serum albumin and reduced binding to chitin; when associated with a-395. |
| 395 | complete loss of binding to acetylated bovine serum albumin and reduced binding to chitin; when associated with n-395. |
| 405 | significantly reduced binding to acetylated bovine serum albumin and loss of binding to chitin; when associated with s-4 |
| 415 | complete loss of binding to acetylated bovine serum albumin and chitin. |
| 431 | significantly reduced binding to acetylated bovine serum albumin and loss of binding to chitin; when associated with s-4 |
| 432 | complete loss of binding to acetylated bovine serum albumin and chitin. |
| 443 | slight reduction in binding to acetylated bovine serum albumin and no effect on binding to chitin. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 79 (showing top):
EFC_Q6, IRF7_01, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, RFX1_01, WANG_SMARCE1_TARGETS_UP, TAL1BETAITF2_01, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, MIYAGAWA_TARGETS_OF_EWSR1_ETS_FUSIONS_DN, GOMF_CHITIN_BINDING, chr9q34, GOCC_EXTERNAL_ENCAPSULATING_STRUCTURE, GSE14415_NATURAL_TREG_VS_TCONV_DN
GO Biological Process (0):
GO Molecular Function (3): chitin binding (GO:0008061), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| carbohydrate derivative binding | 1 |
| cation binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
564 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FIBCD1 | ALB | P02768 | 495 |
| FIBCD1 | WFIKKN2 | Q8TEU8 | 456 |
| FIBCD1 | QRFP | P83859 | 441 |
| FIBCD1 | OR10W1 | Q8NGF6 | 422 |
| FIBCD1 | IGFBP2 | P18065 | 400 |
| FIBCD1 | MPPED1 | O15442 | 398 |
| FIBCD1 | NOD2 | Q9HC29 | 392 |
| FIBCD1 | CLEC7A | Q9BXN2 | 386 |
| FIBCD1 | TMTC4 | Q5T4D3 | 371 |
| FIBCD1 | OR9I1 | Q8NGQ6 | 371 |
| FIBCD1 | OR2L2 | Q8NH16 | 366 |
| FIBCD1 | SOCS3 | O14543 | 360 |
| FIBCD1 | WFS1 | O76024 | 358 |
| FIBCD1 | PEX5L | Q8IYB4 | 351 |
| FIBCD1 | ZNF586 | Q9NXT0 | 348 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NRP1 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.790 |
| FIBCD1 | MAL | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAL | FIBCD1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| CLDND1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN3 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMUB2 | TMEM259 | psi-mi:“MI:0914”(association) | 0.350 |
| CD80 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| GDPD5 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| SAAL1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| MAL | FIBCD1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (8): FIBCD1 (Two-hybrid), FIBCD1 (Affinity Capture-RNA), MAL (Two-hybrid), FIBCD1 (Phenotypic Suppression), FIBCD1 (Affinity Capture-MS), FIBCD1 (Affinity Capture-MS), FIBCD1 (Affinity Capture-MS), FIBCD1 (Affinity Capture-MS)
ESM2 similar proteins: A2AV25, A5PJQ2, O35764, O43278, O43827, O70165, O95841, O95897, P02675, P02678, P04115, P12804, P14480, P30203, P33573, Q0P4P2, Q14314, Q1RMR1, Q24K15, Q29041, Q29042, Q29RY7, Q2KJ51, Q2TNK5, Q568Y7, Q5EA66, Q5FB95, Q5I2E5, Q5XK91, Q640P2, Q6AX44, Q6TMA8, Q8BM13, Q8IUK5, Q8K0E8, Q8N539, Q8NI99, Q8R0Z6, Q8R1Q3, Q91ZV7
Diamond homologs: A0A8J8, A2AV25, D8VNS7, D8VNS8, D8VNS9, D8VNT0, E2IYB3, E9PV24, O00602, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O70165, O70497, O75636, O77802, O93526, O95841, P02671, P02675, P02676, P02678, P02679, P02680, P04115, P06399, P10039, P12799, P12804, P14448, P14480, P17634, P19477, P21520, P22105, P24821
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
137 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 119 |
| Likely benign | 9 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1316 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:130905231:CAC:C | donor_loss | 1.0000 |
| 9:130905232:A:AC | donor_gain | 1.0000 |
| 9:130905233:C:CC | donor_gain | 1.0000 |
| 9:130905233:CCTG:C | donor_gain | 1.0000 |
| 9:130905411:GCCC:G | acceptor_loss | 1.0000 |
| 9:130905412:CC:C | acceptor_gain | 1.0000 |
| 9:130905413:CC:C | acceptor_gain | 1.0000 |
| 9:130905414:C:CC | acceptor_gain | 1.0000 |
| 9:130905415:T:C | acceptor_loss | 1.0000 |
| 9:130905420:T:TC | acceptor_gain | 1.0000 |
| 9:130911787:CTCA:C | donor_loss | 1.0000 |
| 9:130911790:A:AT | donor_loss | 1.0000 |
| 9:130911884:AACAC:A | acceptor_gain | 1.0000 |
| 9:130911885:ACAC:A | acceptor_gain | 1.0000 |
| 9:130911886:CAC:C | acceptor_gain | 1.0000 |
| 9:130911886:CACC:C | acceptor_gain | 1.0000 |
| 9:130911889:C:CA | acceptor_loss | 1.0000 |
| 9:130911889:C:CC | acceptor_gain | 1.0000 |
| 9:130911890:T:G | acceptor_loss | 1.0000 |
| 9:130923736:ACACT:A | donor_loss | 1.0000 |
| 9:130923737:CACTC:C | donor_loss | 1.0000 |
| 9:130923738:ACTC:A | donor_loss | 1.0000 |
| 9:130923739:CTCA:C | donor_loss | 1.0000 |
| 9:130923740:TCA:T | donor_loss | 1.0000 |
| 9:130923741:C:CG | donor_loss | 1.0000 |
| 9:130923742:A:AC | donor_gain | 1.0000 |
| 9:130923742:ACCGT:A | donor_gain | 1.0000 |
| 9:130923743:C:CC | donor_gain | 1.0000 |
| 9:130923743:C:CT | donor_loss | 1.0000 |
| 9:130923743:CCGT:C | donor_gain | 1.0000 |
AlphaMissense
2977 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:130904139:C:A | W437C | 1.000 |
| 9:130904139:C:G | W437C | 1.000 |
| 9:130904141:A:G | W437R | 1.000 |
| 9:130904141:A:T | W437R | 1.000 |
| 9:130904208:G:C | C414W | 1.000 |
| 9:130904209:C:T | C414Y | 1.000 |
| 9:130904220:C:A | W410C | 1.000 |
| 9:130904220:C:G | W410C | 1.000 |
| 9:130904222:A:G | W410R | 1.000 |
| 9:130904222:A:T | W410R | 1.000 |
| 9:130904247:A:C | C401W | 1.000 |
| 9:130904248:C:A | C401F | 1.000 |
| 9:130904248:C:G | C401S | 1.000 |
| 9:130904248:C:T | C401Y | 1.000 |
| 9:130904249:A:T | C401S | 1.000 |
| 9:130904290:A:G | F387S | 1.000 |
| 9:130904140:C:G | W437S | 0.999 |
| 9:130904182:T:C | Y423C | 0.999 |
| 9:130904183:A:C | Y423D | 0.999 |
| 9:130904188:C:A | G421V | 0.999 |
| 9:130904188:C:T | G421E | 0.999 |
| 9:130904189:C:A | G421W | 0.999 |
| 9:130904190:A:C | N420K | 0.999 |
| 9:130904190:A:T | N420K | 0.999 |
| 9:130904196:G:C | N418K | 0.999 |
| 9:130904196:G:T | N418K | 0.999 |
| 9:130904200:G:A | S417F | 0.999 |
| 9:130904200:G:T | S417Y | 0.999 |
| 9:130904207:G:C | H415D | 0.999 |
| 9:130904209:C:A | C414F | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000000314 (9:130928131 T>A), RS1000011666 (9:130902133 T>C), RS1000021119 (9:130933026 T>A), RS1000066641 (9:130909705 T>C), RS1000109547 (9:130927850 G>A), RS1000145613 (9:130923791 C>T), RS1000202996 (9:130919306 A>G), RS1000265589 (9:130923639 T>C,G), RS1000392947 (9:130920669 C>G), RS1000392988 (9:130915468 C>T), RS1000424873 (9:130919566 C>T), RS1000713593 (9:130917247 C>T), RS1000730943 (9:130937111 T>A), RS1000756267 (9:130919768 G>A,T), RS1000905587 (9:130908768 C>G,T)
Disease associations
OMIM: gene MIM:613357 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006479_86 | Diverticular disease | 1.000000e-06 |
| GCST008667_2 | Smoking status (heavy vs never) | 4.000000e-07 |
| GCST010988_435 | Adult body size | 1.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0006527 | smoking status measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523397 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| kojic acid | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Diazinon | increases methylation | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Fluorouracil | decreases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases abundance, increases palmitoylation, decreases reaction | 1 |
| Okadaic Acid | decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4419299 | Binding | Binding affinity to V5-His tagged FIBCD1 ecto-domain (54 to 461 residues) (unknown origin) assessed as reduction in binding between FIBCD1 and acetylated BSA at 50 mM by ELISA relative to control | Fibcd1 for the prevention and treatment of diseases |
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.