FAM107A

Summary

FAM107A (family with sequence similarity 107 member A, HGNC:30827) is a protein-coding gene on chromosome 3p14.3-p14.2, encoding Actin-associated protein FAM107A (O95990). Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics.

Predicted to enable actin binding activity. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; negative regulation of focal adhesion assembly; and regulation of cytoskeleton organization. Located in several cellular components, including focal adhesion; ruffle membrane; and stress fiber.

Source: NCBI Gene 11170 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_001076778

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30827
Approved symbol	FAM107A
Name	family with sequence similarity 107 member A
Location	3p14.3-p14.2
Locus type	gene with protein product
Status	Approved
Aliases	DRR1, TU3A
Ensembl gene	ENSG00000168309
Ensembl biotype	protein_coding
OMIM	608295
Entrez	11170

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 33 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000360997, ENST00000394481, ENST00000447756, ENST00000464064, ENST00000465970, ENST00000474531, ENST00000497310, ENST00000649301, ENST00000867978, ENST00000867979, ENST00000867980, ENST00000867981, ENST00000867982, ENST00000867983, ENST00000867984, ENST00000867985, ENST00000867986, ENST00000867987, ENST00000867988, ENST00000867989, ENST00000867990, ENST00000867991, ENST00000867992, ENST00000867993, ENST00000867994, ENST00000867995, ENST00000867996, ENST00000867997, ENST00000867998, ENST00000867999, ENST00000962450, ENST00000962451, ENST00000962452, ENST00000962453

RefSeq mRNA: 4 — MANE Select: NM_001076778 NM_001076778, NM_001282713, NM_001282714, NM_007177

CCDS: CCDS2892, CCDS63672, CCDS63673

Canonical transcript exons

ENST00000360997 — 4 exons

Exon	Start	End
ENSE00001228325	58567208	58567364
ENSE00001419495	58564117	58566695
ENSE00003652265	58569691	58569865
ENSE00003847493	58577309	58577391

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 99.86.

FANTOM5 (CAGE): breadth broad, TPM avg 33.1062 / max 2363.0800, expressed in 473 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42721	25.8897	414
42723	3.4029	145
42722	2.1940	165
42739	0.4879	119
42729	0.1999	52
42727	0.1942	47
42734	0.1616	60
42738	0.1212	43
42730	0.0858	20
42728	0.0831	28

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
CA1 field of hippocampus	UBERON:0003881	99.86	gold quality
lateral globus pallidus	UBERON:0002476	99.82	gold quality
amygdala	UBERON:0001876	99.77	gold quality
Ammon’s horn	UBERON:0001954	99.62	gold quality
right frontal lobe	UBERON:0002810	99.62	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.59	gold quality
cranial nerve II	UBERON:0000941	99.56	gold quality
temporal lobe	UBERON:0001871	99.54	gold quality
putamen	UBERON:0001874	99.54	gold quality
nucleus accumbens	UBERON:0001882	99.54	gold quality
spinal cord	UBERON:0002240	99.54	gold quality
globus pallidus	UBERON:0001875	99.52	gold quality
middle frontal gyrus	UBERON:0002702	99.52	gold quality
inferior olivary complex	UBERON:0002127	99.50	gold quality
medial globus pallidus	UBERON:0002477	99.48	gold quality
ventral tegmental area	UBERON:0002691	99.48	gold quality
parietal lobe	UBERON:0001872	99.45	gold quality
caudate nucleus	UBERON:0001873	99.45	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.44	gold quality
postcentral gyrus	UBERON:0002581	99.44	gold quality
hypothalamus	UBERON:0001898	99.43	gold quality
orbitofrontal cortex	UBERON:0004167	99.41	gold quality
substantia nigra	UBERON:0002038	99.37	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.37	gold quality
midbrain	UBERON:0001891	99.35	gold quality
cingulate cortex	UBERON:0003027	99.35	gold quality
entorhinal cortex	UBERON:0002728	99.34	gold quality
anterior cingulate cortex	UBERON:0009835	99.34	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.34	gold quality
subthalamic nucleus	UBERON:0001906	99.33	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	736.99
E-MTAB-10137	yes	428.43
E-MTAB-10287	yes	70.54
E-GEOD-135922	yes	50.51
E-GEOD-76312	yes	17.65
E-HCAD-9	yes	14.87
E-GEOD-84465	yes	13.49
E-MTAB-9067	yes	6.87
E-GEOD-130148	yes	5.68
E-MTAB-6911	no	428.22
E-GEOD-124858	no	21.59
E-GEOD-70580	no	11.15
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

123 targeting FAM107A, 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-4673	100.00	66.64	1490
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 12)

• Expression of the down-regulated in renal cell carcinoma gene (DRR1) gene at 3p14.2 was lost in 7 and down regulated in 2 “chr3+” tumours. (PMID:16432833)
• TU3A is epigenetically inactivated in human cancer (PMID:18813805)
• DRR1 protein is expressed in normal cells, particularly in the nervous system during embryogenesis, is involved in neuronal cell survival, and is downregulated during neuroblastoma carcinogenesis. (PMID:20298674)
• Results found that DRR expression leads to elevated AKT activation by recruiting AKT to focal adhesios in a manner dependent on SRC-family kinases (SFKs) and cell adhesion. (PMID:24141773)
• Importance of FAM107A in lung carcinogenesis, although other than promoter hypermethylation mechanism of the gene decreased expression. (PMID:25753555)
• This study has thus revealed a novel nuclear complex of F-actin, DRR1 and COMMD1 that is involved in NF-kappaB degradation and cell cycle suppression in neuroblastoma cells. (PMID:28604741)
• FAM107A gene is down-regulated in laryngeal tumors. (PMID:28710449)
• Results showed that DRR1 is overexpressed in glioblastoma multiforme (GBM) tissues. Its overexpression is associated with tumor progression and poor clinical outcome of GBM patients, which indicates that DRR1 might be a novel prognostic marker of GBM. More results indicated that DRR1 was involved in GBM invasion and progression possibly through the induction of EMT as activated by phosphorylation of AKT. (PMID:29548818)
• Both IQGAP3/BMP4 and IQGAP3/FAM107A ratios in ucfDNA were significantly higher in patients with BC than in those with hematuria. (PMID:30446454)
• Transcription factor SP1-induced microRNA-146b-3p facilitates the progression and metastasis of colorectal cancer via regulating FAM107A. (PMID:33831429)
• FAM107A as a Tumor Suppressor in Bladder Cancer Inhibits Cell Proliferation, Migration, and Invasion. (PMID:35414505)
• FAM107A as a tumor suppressor in esophageal squamous carcinoma inhibits growth and metastasis. (PMID:37977035)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	FAM107A	ENSDARG00000075540
danio_rerio	FAM107A	ENSDARG00000086300
mus_musculus	Fam107a	ENSMUSG00000021750
rattus_norvegicus	Fam107a	ENSRNOG00000033261
drosophila_melanogaster	CG9328	FBGN0032886

Paralogs (1): FAM107B (ENSG00000065809)

Protein

Protein identifiers

Actin-associated protein FAM107A — O95990 (reviewed: O95990)

Alternative names: Down-regulated in renal cell carcinoma 1, Protein TU3A

All UniProt accessions (3): C9JAU5, O95990, Q6IAM1

UniProt curated annotations — full annotation on UniProt →

Function. Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory. Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner. Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner. May play a role in tumor development.

Subunit / interactions. Interacts with ACTB. Interacts with COMMD1; this interaction stabilizes COMMD1 in the nucleus. Interacts with MAP1A. Interacts with PRDX1. Interacts with F-actin.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Stress fiber. Cell junction. Focal adhesion. Cell projection. Ruffle membrane. Synapse.

Tissue specificity. Widely expressed. Expressed in neurons. Expressed in malignant glial tumors. Expression is reduced or absent in a number of cancer cell lines.

Miscellaneous. May be due to an intron retention.

Similarity. Belongs to the FAM107 family.

Isoforms (4)

UniProt ID	Names	Canonical?
O95990-1	1	yes
O95990-2	2
O95990-3	3
O95990-4	4

RefSeq proteins (4): NP_001070246, NP_001269642, NP_001269643, NP_009108 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009533	FAM107	Family

Pfam: PF06625

UniProt features (18 total): mutagenesis site 5, sequence variant 4, splice variant 3, chain 1, region of interest 1, sequence conflict 1, coiled-coil region 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95990-F1	75.51	0.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (5):

Position	Phenotype
48–50	increases nuclear and diffused cytoplasm localization, decreases interaction with map1a, alters actin cytoskeleton organ
65–66	increases diffused cytoplasm localization, loss of interaction with actb and colocalization with nuclear f-actin, decrea
74–76	decreases nuclear localization and ubiquitination of nf-kappa-b subunit rela.
81–84	decreases nuclear localization.
122–123	increases diffused cytoplasm localization, loss of interaction with actb and colocalization with nuclear f-actin, decrea

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 216 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_COGNITION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_FOCAL_ADHESION_ASSEMBLY, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_GROWTH, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOCC_RUFFLE, MODULE_16

GO Biological Process (14): regulation of cell growth (GO:0001558), actin filament polymerization (GO:0030041), positive regulation of cell migration (GO:0030335), positive regulation of protein ubiquitination (GO:0031398), regulation of protein stability (GO:0031647), cellular response to nutrient levels (GO:0031669), regulation of actin cytoskeleton organization (GO:0032956), cognition (GO:0050890), actin filament bundle assembly (GO:0051017), negative regulation of focal adhesion assembly (GO:0051895), regulation of microtubule cytoskeleton organization (GO:0070507), cellular response to glucocorticoid stimulus (GO:0071385), negative regulation of long-term synaptic potentiation (GO:1900272), negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (14): stress fiber (GO:0001725), nucleus (GO:0005634), cytoplasm (GO:0005737), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), nuclear speck (GO:0016607), ruffle membrane (GO:0032587), neuron projection (GO:0043005), synapse (GO:0045202), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of cytoskeleton organization	2
cell junction	2
cell growth	1
regulation of growth	1
regulation of cellular component organization	1
actin polymerization or depolymerization	1
protein polymerization	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
protein ubiquitination	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
regulation of biological quality	1
response to nutrient levels	1
cellular response to stimulus	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
nervous system process	1
cellular component assembly	1
actin filament bundle organization	1
negative regulation of cell-matrix adhesion	1
focal adhesion assembly	1
regulation of focal adhesion assembly	1
negative regulation of cell-substrate junction organization	1
negative regulation of cell junction assembly	1
microtubule cytoskeleton organization	1
regulation of microtubule-based process	1
response to glucocorticoid	1
cellular response to corticosteroid stimulus	1
negative regulation of biological process	1
long-term synaptic potentiation	1
regulation of long-term synaptic potentiation	1
G1/S transition of mitotic cell cycle	1
negative regulation of mitotic cell cycle phase transition	1
negative regulation of cell cycle G1/S phase transition	1
regulation of G1/S transition of mitotic cell cycle	1
cytoskeletal protein binding	1
binding	1

Protein interactions and networks

STRING

1022 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM107A	HOPX	Q9BPY8	628
FAM107A	PTPRZ1	P23471	626
FAM107A	KRT36	O76013	399
FAM107A	GPR158	Q5T848	381
FAM107A	SLC38A3	Q99624	380
FAM107A	LIFR	P42702	375
FAM107A	EOMES	O95936	360
FAM107A	TBR1	Q16650	353
FAM107A	SAPCD2	Q86UD0	341
FAM107A	SATB2	Q9UPW6	341
FAM107A	CD276	Q5ZPR3	338
FAM107A	CRISP3	P54108	327
FAM107A	FAM3D	Q96BQ1	319
FAM107A	CRYAB	P02511	319
FAM107A	MBLAC2	Q68D91	310

IntAct

33 interactions, top by confidence:

A	B	Type	Score
FAM107A	LDOC1	psi-mi:“MI:0915”(physical association)	0.550
TRAF2	FAM107A	psi-mi:“MI:0915”(physical association)	0.550
LMO3	ZBTB43	psi-mi:“MI:0914”(association)	0.550
TOMM20	TPP1	psi-mi:“MI:0914”(association)	0.480
FAM107A	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
FAM107A	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM107A	IMMT	psi-mi:“MI:0915”(physical association)	0.400
FSD2	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
CCDC136	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
FAM107A	EFEMP2	psi-mi:“MI:0915”(physical association)	0.370
TRIM37	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
TADA2A	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
VIM	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
FAM107A	USHBP1	psi-mi:“MI:0915”(physical association)	0.370
FAM107A	HOOK2	psi-mi:“MI:0915”(physical association)	0.370
KRT15	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
FAM107A	BEGAIN	psi-mi:“MI:0915”(physical association)	0.370
FAM107A	KRTAP4-12	psi-mi:“MI:0915”(physical association)	0.370
CCDC85B	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
FAM107A	NINL	psi-mi:“MI:0915”(physical association)	0.370
CALCOCO2	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
KRT19	FAM107A	psi-mi:“MI:0915”(physical association)	0.370
FAM107A	SPTB	psi-mi:“MI:0914”(association)	0.350
FAM107A	DDX3Y	psi-mi:“MI:0914”(association)	0.350
FAM107A		psi-mi:“MI:0915”(physical association)	0.000
FAM107A	DCD	psi-mi:“MI:0915”(physical association)	0.000
FAM107A	CTPS1	psi-mi:“MI:0915”(physical association)	0.000
FAM107A	PPP2R2A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (80): FAM107A (Two-hybrid), FAM107A (Two-hybrid), FAM107A (Two-hybrid), RINT1 (Two-hybrid), CCDC136 (Two-hybrid), USHBP1 (Two-hybrid), LZTS2 (Two-hybrid), FSD2 (Two-hybrid), KRT40 (Two-hybrid), EFEMP2 (Two-hybrid), FAM107A (Two-hybrid), LDOC1 (Two-hybrid), FAM107A (Two-hybrid), FAM107A (Two-hybrid), USHBP1 (Two-hybrid)

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUT1, A0JLY1, A4IJ21, A5A6J4, A8I9E8, A8IRJ7, A8IUG5, E1BJL9, F1N7G5, M0R3K6, M1V4Y8, O95990, Q0VC09, Q0VFZ6, Q17QH9, Q1RM03, Q2KI00, Q2KIQ2, Q32LH1, Q3TGF2, Q3TVW5, Q4R698, Q4R7T8, Q4R8Y5, Q5NVP3, Q5RE49, Q5U4F3, Q5XIN9, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q6ZN84, Q78TU8, Q8BRC6, Q8N443

Diamond homologs: A5A6J4, M0R3K6, O95990, Q2KI00, Q3TGF2, Q5NVP3, Q5U4F3, Q78TU8, Q9H098

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FAM107A	up-regulates	AKT3	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

31 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

477 predictions. Top by Δscore:

Variant	Effect	Δscore
3:58567203:CCCA:C	donor_loss	1.0000
3:58567205:CACCT:C	donor_loss	1.0000
3:58567206:ACCT:A	donor_loss	1.0000
3:58567207:C:A	donor_loss	1.0000
3:58567360:GGCCC:G	acceptor_gain	1.0000
3:58567361:GCCC:G	acceptor_gain	1.0000
3:58567362:CCC:C	acceptor_gain	1.0000
3:58567362:CCCC:C	acceptor_gain	1.0000
3:58567363:CC:C	acceptor_gain	1.0000
3:58567363:CCC:C	acceptor_gain	1.0000
3:58567364:CC:C	acceptor_gain	1.0000
3:58567364:CCTG:C	acceptor_loss	1.0000
3:58567365:C:CC	acceptor_gain	1.0000
3:58567365:C:T	acceptor_gain	1.0000
3:58567365:CT:C	acceptor_loss	1.0000
3:58569685:CCCTA:C	donor_loss	1.0000
3:58569686:CCTAC:C	donor_loss	1.0000
3:58569687:CTA:C	donor_loss	1.0000
3:58569688:TACC:T	donor_loss	1.0000
3:58569689:ACCT:A	donor_loss	1.0000
3:58569690:CCTT:C	donor_gain	1.0000
3:58569862:GCGG:G	acceptor_gain	1.0000
3:58569863:CGG:C	acceptor_gain	1.0000
3:58569863:CGGC:C	acceptor_gain	1.0000
3:58569866:C:CC	acceptor_gain	1.0000
3:58566692:CCAG:C	acceptor_gain	0.9900
3:58566693:CAGC:C	acceptor_gain	0.9900
3:58566696:C:CC	acceptor_gain	0.9900
3:58567206:A:AC	donor_gain	0.9900
3:58567207:C:CC	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000051946 (3:58589999 G>A), RS1000103643 (3:58576815 G>T), RS1000135099 (3:58566731 A>G), RS1000143959 (3:58625938 C>A,T), RS1000172782 (3:58613779 G>A,T), RS1000230100 (3:58620302 C>T), RS1000237139 (3:58602533 T>C,G), RS1000275109 (3:58619554 C>T), RS1000306142 (3:58619311 C>A), RS1000319795 (3:58582459 G>T), RS1000329547 (3:58593249 G>A), RS1000406912 (3:58570902 G>A), RS1000416472 (3:58625165 A>T), RS1000430244 (3:58587127 G>A,C,T), RS1000487879 (3:58593008 T>C)

Disease associations

OMIM: gene MIM:608295 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003542_43	Night sleep phenotypes	4.000000e-06
GCST006585_2687	Blood protein levels	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression, increases expression	2
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
trichostatin A	decreases expression, affects cotreatment	2
Vorinostat	affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, decreases expression	2
methylselenic acid	increases expression	1
arsenite	increases methylation	1
o,p’-DDT	decreases expression	1
butyraldehyde	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
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases methylation, decreases methylation	1
Resveratrol	decreases expression	1
Decitabine	affects expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Cisplatin	affects expression	1
Diethylhexyl Phthalate	decreases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Progesterone	increases expression	1
Selenium	increases expression	1
Smoke	increases expression	1
Dihydrotestosterone	increases expression	1
Vitamin E	increases expression	1
Zearalenone	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.