TENT5C

Summary

TENT5C (terminal nucleotidyltransferase 5C, HGNC:24712) is a protein-coding gene on chromosome 1p12, encoding Terminal nucleotidyltransferase 5C (Q5VWP2). Catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3’-OH terminal group and enhances mRNA stability and gene expression.

Enables poly(A) RNA polymerase activity. Involved in mRNA stabilization and negative regulation of cell differentiation. Located in centrosome; cytoplasm; and nucleoplasm.

Source: NCBI Gene 54855 — RefSeq curated summary.

At a glance

• GWAS associations: 44
• Clinical variants (ClinVar): 66 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_017709

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24712
Approved symbol	TENT5C
Name	terminal nucleotidyltransferase 5C
Location	1p12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20202
Ensembl gene	ENSG00000183508
Ensembl biotype	protein_coding
OMIM	613952
Entrez	54855

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000369448, ENST00000880490, ENST00000880491, ENST00000880492, ENST00000880493, ENST00000880494

RefSeq mRNA: 1 — MANE Select: NM_017709 NM_017709

CCDS: CCDS896

Canonical transcript exons

ENST00000369448 — 2 exons

Exon	Start	End
ENSE00001450050	117622842	117628389
ENSE00001450051	117606048	117606153

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.9908 / max 6361.7698, expressed in 1103 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4887	47.7329	1100
4888	0.1777	63
4885	0.0294	5
4886	0.0268	7
4884	0.0193	4
4883	0.0046	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.96	gold quality
oocyte	CL:0000023	99.81	gold quality
sperm	CL:0000019	99.56	gold quality
trabecular bone tissue	UBERON:0002483	99.49	gold quality
palpebral conjunctiva	UBERON:0001812	98.78	gold quality
epithelium of nasopharynx	UBERON:0001951	97.99	gold quality
male germ cell	CL:0000015	97.34	gold quality
bone marrow	UBERON:0002371	96.66	gold quality
pylorus	UBERON:0001166	96.55	gold quality
bronchial epithelial cell	CL:0002328	95.80	gold quality
parotid gland	UBERON:0001831	95.73	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.59	gold quality
corpus epididymis	UBERON:0004359	95.19	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.76	gold quality
colonic mucosa	UBERON:0000317	93.88	gold quality
bone marrow cell	CL:0002092	93.79	gold quality
tonsil	UBERON:0002372	93.24	gold quality
colonic epithelium	UBERON:0000397	93.12	gold quality
islet of Langerhans	UBERON:0000006	92.71	gold quality
jejunal mucosa	UBERON:0000399	92.44	gold quality
superficial temporal artery	UBERON:0001614	92.17	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.73	gold quality
bronchus	UBERON:0002185	91.56	gold quality
epithelium of bronchus	UBERON:0002031	91.55	gold quality
pancreas	UBERON:0001264	91.54	gold quality
left testis	UBERON:0004533	91.52	gold quality
body of pancreas	UBERON:0001150	91.46	gold quality
trachea	UBERON:0003126	91.22	gold quality
right testis	UBERON:0004534	91.18	gold quality
cardia of stomach	UBERON:0001162	91.10	gold quality

Single-cell (SCXA)

Detected in 22 experiment(s), a significant marker in 20.

Experiment	Marker?	Max mean expression
E-GEOD-36552	yes	1858.66
E-CURD-88	yes	79.78
E-MTAB-8410	yes	48.94
E-CURD-112	yes	48.48
E-CURD-46	yes	47.88
E-CURD-122	yes	45.85
E-HCAD-4	yes	42.38
E-HCAD-1	yes	39.80
E-MTAB-6678	yes	28.85
E-GEOD-135922	yes	28.67
E-HCAD-11	yes	25.40
E-MTAB-10042	yes	23.30
E-MTAB-9221	yes	23.03
E-MTAB-8142	yes	20.04
E-MTAB-9543	yes	18.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

130 targeting TENT5C, 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-8485	100.00	77.57	4731
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607

Literature-anchored findings (GeneRIF, showing 17)

• Data indicate that when cases with FAM46C deletion or mutation were considered together, they were strongly associated with impaired overall survival (OS) in the intensive treatment setting. (PMID:21994415)
• data strengthen the growing evidence that the FAM46C gene is involved in the pathogenesis of MM as a potential tumour suppressor, although its role remains to be clarified. (PMID:26456599)
• Reduced FAM46C mRNA expression levels were associated with Gastric Cancer. (PMID:27770343)
• Study shows that FAM46C, a tumor suppressor for hepatocellular carcinoma, is important for the anti-proliferation and proapoptotic effects of norcantharidin. (PMID:28341836)
• FAM46C mutation as a contributor to myeloma pathogenesis and disease progression via perturbation in plasma cell differentiation and endoplasmic reticulum homeostasis. (PMID:28619709)
• FAM46C is a poly(A) polymerase and that loss of function of FAM46C drives multiple myeloma through the destabilisation of endoplasmic reticulum response transcripts. (PMID:28931820)
• Low FAM46C expression is associated with myocardial dysfunction. (PMID:30910647)
• FAM46C suppresses gastric cancer by inhibition of Wnt/beta-catenin. (PMID:31585903)
• FAM46C controls antibody production by the polyadenylation of immunoglobulin mRNAs and inhibits cell migration in multiple myeloma. (PMID:32141701)
• Disruption of the family with sequence similarity 46, member C (FAM46C) gene promotes tumorigenicity of myeloma cells. Levels of phosphorylated Akt and its substrates increase both in vitro and in vivo in the FAM46C(-/-) cells compared to WT cells. Loss of FAM46C significantly activated serum-responsive genes while inactivating phosphatase and tensin homolog (PTEN)-related genes. (PMID:32176823)
• Down-regulation of miR-10b represses cell vitality in osteosarcoma and is inversely associated with prognosis via interacting with FAM46C: Running title: MiR-10b/FAM46C axis modulates OS progression. (PMID:32223957)
• FAM46C/TENT5C functions as a tumor suppressor through inhibition of Plk4 activity. (PMID:32807875)
• FAM46C and FNDC3A Are Multiple Myeloma Tumor Suppressors That Act in Concert to Impair Clearing of Protein Aggregates and Autophagy. (PMID:32963011)
• The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis. (PMID:32966780)
• Structural and functional characterization of multiple myeloma associated cytoplasmic poly(A) polymerase FAM46C. (PMID:34048638)
• FAM46C-mediated tumor heterogeneity predicts extramedullary metastasis and poorer survival in multiple myeloma. (PMID:37155154)
• Hsa-miR-1269a up-regulation fosters the malignant progression of esophageal squamous cell carcinoma via targeting FAM46C. (PMID:37467675)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	tent5c	ENSDARG00000010437
mus_musculus	Tent5c	ENSMUSG00000044468
rattus_norvegicus	Tent5c	ENSRNOG00000070242
drosophila_melanogaster	CG46385	FBGN0286778
caenorhabditis_elegans	tent-5	WBGENE00004131
caenorhabditis_elegans		WBGENE00011957
caenorhabditis_elegans		WBGENE00016596
caenorhabditis_elegans		WBGENE00017841
caenorhabditis_elegans		WBGENE00044662
caenorhabditis_elegans		WBGENE00219325

Paralogs (3): TENT5A (ENSG00000112773), TENT5B (ENSG00000158246), TENT5D (ENSG00000174016)

Protein

Protein identifiers

Terminal nucleotidyltransferase 5C — Q5VWP2 (reviewed: Q5VWP2)

Alternative names: Non-canonical poly(A) polymerase FAM46C

All UniProt accessions (1): Q5VWP2

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3’-OH terminal group and enhances mRNA stability and gene expression. Can also elongate RNA oligos ending with uridine molecule, provided that the sequence is adenosine-rich. Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein. (Microbial infection) Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon.

Subunit / interactions. Interacts with BCCIP and PABPC1; the interaction has no effect on TENT5C poly(A) polymerase function. Interacts with PLK4; this interaction leads to the TENT5C recruitment into the centrosome.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Induction. By type I interferons.

Similarity. Belongs to the TENT family.

RefSeq proteins (1): NP_060179* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012937	TET5	Family

Pfam: PF07984

Enzyme classification (BRENDA):

• EC 2.7.7.19 — polynucleotide adenylyltransferase (BRENDA: 35 organisms, 181 substrates, 125 inhibitors, 114 Km, 53 kcat entries)

Substrate kinetics (BRENDA)

19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.028–2.191	54
RNA (A)15	0.51–24.99	23
CTP	0.1036–4.7	7
(A)N	0.0468–0.711	5
OLIGO(A)14	0.0005–0.037	5
(A)15	0.0009–0.0053	3
GTP	0.055–0.062	2
OLIGO(A)18	0.0468–0.0642	2
OLIGO(A)N	0.01–0.3	2
2-AMINOPURINE RIBOSIDE TRIPHOSPHATE	0.0197	1
DATP	0.06	1
OLIGO(A)12	0.0004	1
OLIGO(A)17C	0.0263	1
OLIGOADENYLATE	0.2	1
POLY(A)N	0.0036	1

Catalyzed reactions (Rhea), 1 shown:

• RNA(n) + ATP = RNA(n)-3’-adenine ribonucleotide + diphosphate (RHEA:11332)

UniProt features (37 total): helix 15, strand 12, mutagenesis site 6, chain 1, sequence variant 1, turn 1, sequence conflict 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
6W36	X-RAY DIFFRACTION	2.85
6W3I	X-RAY DIFFRACTION	3.8
6W3J	X-RAY DIFFRACTION	4.38
6W38	X-RAY DIFFRACTION	4.48
8EQB	ELECTRON MICROSCOPY	6.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VWP2-F1	87.50	0.71

Antibody-complex structures (SAbDab): 1 — 8EQB

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 (6):

Position	Phenotype
90–92	loss of poly(a) polymerase activity.
144	decreases substantially the interaction with plk4. weakens binding to plk4; when associated with e-230 and e-321. abolis
146	decreases substantially the interaction with plk4. weakens binding to plk4; when associated with e-230 and e-321.
166	does not affect colocalization with plk4 in centrosome. increases cell viability.
320	slightly decreases the binding to plk4; when associated with e-321. abolishes the inhibitory effect of tent5c on the cel
321	slightly decreases the binding to plk4; when associated with e-320. abolishes the inhibitory effect of tent5c on the cel

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 305 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, MCLACHLAN_DENTAL_CARIES_UP, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, TGCACTT_MIR519C_MIR519B_MIR519A, PEREZ_TP63_TARGETS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, CAGCTG_AP4_Q5, GUTIERREZ_WALDENSTROEMS_MACROGLOBULINEMIA_1_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, FOSTER_TOLERANT_MACROPHAGE_DN

GO Biological Process (3): in utero embryonic development (GO:0001701), negative regulation of cell differentiation (GO:0045596), mRNA stabilization (GO:0048255)

GO Molecular Function (5): RNA binding (GO:0003723), poly(A) RNA polymerase activity (GO:1990817), protein binding (GO:0005515), transferase activity (GO:0016740), nucleotidyltransferase activity (GO:0016779)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
chordate embryonic development	1
cell differentiation	1
regulation of cell differentiation	1
negative regulation of cellular process	1
negative regulation of developmental process	1
regulation of mRNA stability	1
RNA stabilization	1
negative regulation of mRNA catabolic process	1
nucleic acid binding	1
adenylyltransferase activity	1
binding	1
catalytic activity	1
transferase activity, transferring phosphorus-containing groups	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

716 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TENT5C	DIS3	Q9Y2L1	791
TENT5C	NRAS	P01111	583
TENT5C	SP140	Q13342	583
TENT5C	TRAF3	Q13114	557
TENT5C	TRIM58	Q8NG06	520
TENT5C	IGHV4-38-2	P0DP08	516
TENT5C	KRAS	P01116	507
TENT5C	CNTROB	Q8N137	507
TENT5C	CDKN2C	P42773	506
TENT5C	BRAF	P15056	506
TENT5C	CCDC42	Q96M95	500
TENT5C	OAZ3	Q9UMX2	492
TENT5C	CYLD	Q9NQC7	488
TENT5C	NSD2	O96028	480
TENT5C	HMGXB4	Q9UGU5	468

IntAct

33 interactions, top by confidence:

A	B	Type	Score
RHOXF2	TENT5C	psi-mi:“MI:0915”(physical association)	0.560
MVP	TENT5C	psi-mi:“MI:0915”(physical association)	0.370
PRKN	TENT5C	psi-mi:“MI:0915”(physical association)	0.370
DAZAP2	TENT5C	psi-mi:“MI:0915”(physical association)	0.370
TRIP6	TENT5C	psi-mi:“MI:0915”(physical association)	0.370
PLK4	TENT5C	psi-mi:“MI:0915”(physical association)	0.370
AP2B1	TENT5C	psi-mi:“MI:0915”(physical association)	0.370
FBXW7	TENT5C	psi-mi:“MI:2364”(proximity)	0.270
SMAD4	TENT5C	psi-mi:“MI:2364”(proximity)	0.270
TENT5C	SMARCA4	psi-mi:“MI:2364”(proximity)	0.270
SPOP	TENT5C	psi-mi:“MI:2364”(proximity)	0.270
TENT5C	SPOP	psi-mi:“MI:2364”(proximity)	0.270
TENT5C	EGFR	psi-mi:“MI:2364”(proximity)	0.270
TENT5C	PTEN	psi-mi:“MI:2364”(proximity)	0.270
TENT5C	PTPN11	psi-mi:“MI:2364”(proximity)	0.270
TENT5C	TP53	psi-mi:“MI:2364”(proximity)	0.270
TENT5C	AKT1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (144): RHOXF2 (Two-hybrid), FAM46C (Two-hybrid), FAM46C (Two-hybrid), FAM46C (Two-hybrid), FAM46C (Two-hybrid), FAM46C (Affinity Capture-MS), FAM46C (Affinity Capture-Western), FNDC3A (Affinity Capture-Western), SEPT7 (Affinity Capture-MS), SEPT9 (Affinity Capture-MS), ACAA1 (Affinity Capture-MS), ACAT1 (Affinity Capture-MS), ACO2 (Affinity Capture-MS), ACTN4 (Affinity Capture-MS), AK2 (Affinity Capture-MS)

ESM2 similar proteins: A0AVI4, A0JMH2, A2ARP1, B0BNK8, F7E7M3, O00562, O08674, O35954, P0C644, P10588, P17105, P23677, Q08DJ7, Q08DK0, Q15173, Q28647, Q29RH2, Q4R7D0, Q4R8X4, Q5R5N9, Q5SSF7, Q5U2N3, Q5VWP2, Q5XIL6, Q5XIV0, Q5ZL95, Q6PD28, Q6PFW1, Q7ZUP1, Q80W83, Q80YU0, Q86TL0, Q8C152, Q8K304, Q8N159, Q8NEK8, Q8R071, Q8R307, Q8R4H7, Q8VDR9

Diamond homologs: B0BNK8, D3Z5S8, F7E7M3, Q29RH2, Q4R8X4, Q5SSF7, Q5VWP2, Q5XIV0, Q5ZL95, Q7ZUP1, Q8C152, Q8NEK8, Q96A09, Q96IP4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 18 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.

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of gene expression	7	15.1×	1e-04

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — PCM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

705 predictions. Top by Δscore:

Variant	Effect	Δscore
1:117606152:AGG:A	donor_loss	1.0000
1:117606154:G:A	donor_loss	1.0000
1:117606155:T:A	donor_loss	1.0000
1:117622840:A:AG	acceptor_gain	1.0000
1:117622841:G:GG	acceptor_gain	1.0000
1:117624041:C:G	donor_gain	0.9900
1:117606154:G:GG	donor_gain	0.9800
1:117607014:GTCGC:G	donor_gain	0.9800
1:117622838:TCA:T	acceptor_loss	0.9800
1:117622840:A:C	acceptor_loss	0.9800
1:117622840:A:T	acceptor_gain	0.9800
1:117622841:G:GA	acceptor_loss	0.9800
1:117622841:GT:G	acceptor_gain	0.9800
1:117622841:GTT:G	acceptor_gain	0.9800
1:117622841:GTTT:G	acceptor_gain	0.9800
1:117622841:GTTTC:G	acceptor_gain	0.9800
1:117607052:C:T	donor_gain	0.9700
1:117607055:G:GT	donor_gain	0.9700
1:117607058:G:GT	donor_gain	0.9700
1:117607175:G:GG	donor_gain	0.9700
1:117622838:TCAG:T	acceptor_gain	0.9700
1:117622839:CAG:C	acceptor_gain	0.9700
1:117624273:G:GT	donor_gain	0.9700
1:117607009:G:GT	donor_gain	0.9600
1:117607009:G:T	donor_gain	0.9600
1:117622835:C:G	acceptor_gain	0.9600
1:117622837:TTCA:T	acceptor_gain	0.9600
1:117607044:T:TA	donor_gain	0.9500
1:117622841:G:T	acceptor_gain	0.9500
1:117606149:CCCAG:C	donor_gain	0.9400

AlphaMissense

2608 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:117623397:T:C	F177L	1.000
1:117623399:T:A	F177L	1.000
1:117623399:T:G	F177L	1.000
1:117623403:T:C	F179L	1.000
1:117623404:T:C	F179S	1.000
1:117623405:C:A	F179L	1.000
1:117623405:C:G	F179L	1.000
1:117623406:A:C	S180R	1.000
1:117623408:T:A	S180R	1.000
1:117623408:T:G	S180R	1.000
1:117623617:T:C	L250P	1.000
1:117623686:G:C	R273T	1.000
1:117623686:G:T	R273M	1.000
1:117623830:T:C	L321P	1.000
1:117623834:G:A	M322I	1.000
1:117623834:G:C	M322I	1.000
1:117623834:G:T	M322I	1.000
1:117623322:T:A	W152R	0.999
1:117623322:T:C	W152R	0.999
1:117623329:T:C	L154P	0.999
1:117623368:T:C	L167P	0.999
1:117623373:T:C	F169L	0.999
1:117623375:T:A	F169L	0.999
1:117623375:T:G	F169L	0.999
1:117623391:C:A	R175S	0.999
1:117623403:T:A	F179I	0.999
1:117623403:T:G	F179V	0.999
1:117623404:T:G	F179C	0.999
1:117623415:T:C	S183P	0.999
1:117623416:C:T	S183F	0.999

dbSNP variants (sampled 300 via entrez): RS1000198191 (1:117613230 A>C,G), RS1000313214 (1:117613002 A>G), RS1000328292 (1:117619473 C>T), RS1000343793 (1:117604455 A>C,G), RS1000543786 (1:117614528 G>A), RS1000563576 (1:117604119 T>A,C), RS1000658352 (1:117614260 G>A), RS1000679505 (1:117615969 A>G), RS1000724541 (1:117621282 A>G), RS1001073508 (1:117621087 A>G,T), RS1001147623 (1:117608096 T>A), RS1001166866 (1:117621363 G>A), RS1001258253 (1:117621944 A>G), RS1001288425 (1:117615705 C>T), RS1001448144 (1:117621179 T>A,G)

Disease associations

OMIM: gene MIM:613952 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

44 associations (top):

Study	Trait	p-value
GCST004599_248	Mean platelet volume	4.000000e-15
GCST004602_13	Mean corpuscular volume	3.000000e-20
GCST004602_14	Mean corpuscular volume	4.000000e-09
GCST004603_166	Platelet count	3.000000e-14
GCST004611_110	High light scatter reticulocyte count	6.000000e-30
GCST004612_150	High light scatter reticulocyte percentage of red cells	2.000000e-32
GCST004616_112	Platelet distribution width	6.000000e-16
GCST004619_217	Reticulocyte fraction of red cells	2.000000e-34
GCST004622_106	Reticulocyte count	2.000000e-29
GCST004625_38	Monocyte count	2.000000e-10
GCST004630_10	Mean corpuscular hemoglobin	9.000000e-24
GCST004630_11	Mean corpuscular hemoglobin	7.000000e-09
GCST005993_62	Mean corpuscular hemoglobin	1.000000e-23
GCST006011_88	Mean corpuscular volume	2.000000e-21
GCST008363_16	Offspring birth weight	2.000000e-08
GCST008839_449	Height	9.000000e-09
GCST010244_197	Triglyceride levels	1.000000e-08
GCST010396_105	Gut microbiota (bacterial taxa, hurdle binary method)	5.000000e-07
GCST90002385_89	High light scatter reticulocyte count	9.000000e-118
GCST90002385_90	High light scatter reticulocyte count	1.000000e-32
GCST90002386_371	High light scatter reticulocyte percentage of red cells	5.000000e-141
GCST90002386_372	High light scatter reticulocyte percentage of red cells	1.000000e-33
GCST90002390_10	Mean corpuscular hemoglobin	6.000000e-85
GCST90002390_11	Mean corpuscular hemoglobin	2.000000e-31
GCST90002390_12	Mean corpuscular hemoglobin	4.000000e-16
GCST90002390_13	Mean corpuscular hemoglobin	3.000000e-14
GCST90002391_63	Mean corpuscular hemoglobin concentration	7.000000e-20
GCST90002392_277	Mean corpuscular volume	1.000000e-73
GCST90002392_278	Mean corpuscular volume	8.000000e-24
GCST90002392_279	Mean corpuscular volume	9.000000e-12

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007986	reticulocyte count
EFO:0007984	platelet component distribution width
EFO:0005091	monocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004530	triglyceride measurement
EFO:0007874	gut microbiome measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0007989	monocyte percentage of leukocytes
EFO:0007985	platelet crit
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression, increases expression	7
Valproic Acid	affects cotreatment, increases expression	5
trichostatin A	affects cotreatment, increases expression, affects expression	4
sodium arsenite	decreases expression, increases expression	3
Tetrachlorodibenzodioxin	affects expression, affects cotreatment, increases expression	3
Aflatoxin B1	affects expression, decreases expression, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
Resveratrol	affects cotreatment, increases expression	2
Arsenic Trioxide	affects binding, decreases reaction, decreases expression	2
Benzo(a)pyrene	increases expression	2
Cisplatin	decreases expression, increases expression	2
Copper	affects cotreatment, increases expression, affects binding, decreases expression	2
Estradiol	decreases expression, increases expression, affects cotreatment	2
Formaldehyde	decreases expression, increases expression	2
Hydrogen Peroxide	decreases expression, affects expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
OTX015	increases expression	1
mivebresib	increases expression	1
methylmercuric chloride	increases expression	1
propionaldehyde	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	affects expression	1
butyraldehyde	increases expression	1
zinc chromate	increases abundance, increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	increases expression	1

Clinical trials (associated diseases)

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