CCDC152

Summary

CCDC152 (coiled-coil domain containing 152, HGNC:34438) is a protein-coding gene on chromosome 5p12, encoding Coiled-coil domain-containing protein 152 (Q4G0S7).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 64 total — 3 pathogenic
• GTEx eGene: eQTL in 22 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.87 (unconstrained)
• MANE Select transcript: NM_001134848
• Notable: 64 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34438
Approved symbol	CCDC152
Name	coiled-coil domain containing 152
Location	5p12
Locus type	gene with protein product
Status	Approved
Aliases	LOC100129792
Ensembl gene	ENSG00000198865
Ensembl biotype	protein_coding
OMIM	621274
Entrez	100129792

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000361970

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1

ENST00000361970, ENST00000388827, ENST00000881080, ENST00000881081, ENST00000927600, ENST00000927601, ENST00000927602, ENST00000927603, ENST00000927604, ENST00001076128, ENST00001134451

RefSeq mRNA: 1 — MANE Select: NM_001134848 NM_001134848

CCDS: CCDS47203

Canonical transcript exons

ENST00000361970 — 9 exons

Exon	Start	End
ENSE00001435187	42799659	42802439
ENSE00001489256	42799375	42799458
ENSE00001489257	42796829	42796956
ENSE00001489259	42783474	42783576
ENSE00001489260	42779458	42779522
ENSE00001489262	42769597	42769665
ENSE00001489265	42762443	42762548
ENSE00001489268	42759120	42759208
ENSE00001489269	42756818	42756885

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 99.77.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3680 / max 325.6449, expressed in 624 samples.

Highest expression (Bgee): pancreatic ductal cell, renal medulla, cardia of stomach, pylorus, buccal mucosa cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CCDC152 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 22 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 22 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	1.3e-40	+0.60	5:42785887:A:G
Artery Aorta	eqtl	3.2e-20	+0.55	5:42804436:C:G
Artery Coronary	eqtl	1.1e-12	+0.58	5:42735203:G:T
Pancreas	eqtl	1.9e-08	+0.41	5:42738704:A:G
Thyroid	eqtl	2.5e-08	+0.27	5:42743885:A:G
Whole Blood	eqtl	4.9e-08	+0.27	5:42747435:A:G
Pituitary	eqtl	2.2e-05	+0.28	5:42738600:A:G
Brain Caudate basal ganglia	eqtl	6.8e-05	+0.79	5:42696574:A:G
Brain Cerebellum	eqtl	1.4e-04	+1.00	5:42696574:A:G
Brain Cerebellar Hemisphere	eqtl	1.7e-04	+0.82	5:42707697:C:G
Brain Nucleus accumbens basal ganglia	eqtl	2.8e-04	+1.02	5:42699144:A:T
Cells Cultured fibroblasts	eqtl	8.9e-04	+0.49	5:42707697:C:G
Brain Cortex	eqtl	3.5e-03	+0.73	5:42711788:A:G
Heart Atrial Appendage	eqtl	6.9e-03	-0.86	5:42720116:C:A
Brain Spinal cord cervical c-1	eqtl	8.3e-03	+0.75	5:42951515:T:C
Esophagus Muscularis	eqtl	9.8e-03	+0.17	5:42738731:A:C
Brain Putamen basal ganglia	eqtl	1.3e-02	+0.89	5:42696574:A:G
Breast Mammary Tissue	eqtl	1.3e-02	+0.28	5:42634612:A:C
Testis	eqtl	1.4e-02	-0.63	5:42660757:C:T
Brain Hypothalamus	eqtl	2.2e-02	+0.25	5:42785887:A:G

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
56284	2.3680	624

Top tissues by expression

showing 100 of 255 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	99.77	gold quality
renal medulla	UBERON:0000362	99.15	gold quality
cardia of stomach	UBERON:0001162	99.14	gold quality
pylorus	UBERON:0001166	99.05	gold quality
buccal mucosa cell	CL:0002336	98.99	gold quality
nipple	UBERON:0002030	98.90	gold quality
ventral tegmental area	UBERON:0002691	98.84	gold quality
medulla oblongata	UBERON:0001896	98.78	gold quality
trigeminal ganglion	UBERON:0001675	98.75	gold quality
inferior vagus X ganglion	UBERON:0005363	98.72	gold quality
trachea	UBERON:0003126	98.71	gold quality
superior vestibular nucleus	UBERON:0007227	98.70	gold quality
superior surface of tongue	UBERON:0007371	98.70	gold quality
endothelial cell	CL:0000115	98.68	gold quality
subthalamic nucleus	UBERON:0001906	98.67	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.64	gold quality
lateral globus pallidus	UBERON:0002476	98.56	gold quality
dorsal root ganglion	UBERON:0000044	98.48	gold quality
pericardium	UBERON:0002407	98.39	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.38	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.31	gold quality
substantia nigra pars compacta	UBERON:0001965	98.27	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.12	gold quality
superficial temporal artery	UBERON:0001614	98.10	gold quality
saphenous vein	UBERON:0007318	97.92	gold quality
upper leg skin	UBERON:0004262	97.90	gold quality
pharyngeal mucosa	UBERON:0000355	97.87	gold quality
urethra	UBERON:0000057	97.74	gold quality
vena cava	UBERON:0004087	97.48	gold quality
upper arm skin	UBERON:0004263	97.48	gold quality
sperm	CL:0000019	97.46	gold quality
penis	UBERON:0000989	97.46	gold quality
tongue	UBERON:0001723	97.39	gold quality
pons	UBERON:0000988	97.30	gold quality
layer of synovial tissue	UBERON:0007616	97.24	gold quality
body of tongue	UBERON:0011876	97.24	gold quality
synovial joint	UBERON:0002217	97.13	gold quality
trabecular bone tissue	UBERON:0002483	97.13	gold quality
nasal cavity epithelium	UBERON:0005384	97.11	silver quality
kidney epithelium	UBERON:0004819	96.85	silver quality
visceral pleura	UBERON:0002401	96.54	gold quality
epithelium of nasopharynx	UBERON:0001951	96.37	silver quality
parietal pleura	UBERON:0002400	95.39	gold quality
tendon of biceps brachii	UBERON:0008188	95.39	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.31	gold quality
adult organism	UBERON:0007023	95.20	gold quality
tibia	UBERON:0000979	95.13	gold quality
skin of hip	UBERON:0001554	95.08	gold quality
lower lobe of lung	UBERON:0008949	94.91	gold quality
jejunal mucosa	UBERON:0000399	94.88	gold quality
seminal vesicle	UBERON:0000998	94.79	gold quality
jejunum	UBERON:0002115	94.75	gold quality
oral cavity	UBERON:0000167	94.64	gold quality
germinal epithelium of ovary	UBERON:0001304	94.64	gold quality
mammalian vulva	UBERON:0000997	94.63	gold quality
bronchus	UBERON:0002185	94.40	gold quality
bronchial epithelial cell	CL:0002328	94.20	gold quality
thymus	UBERON:0002370	93.86	gold quality
caput epididymis	UBERON:0004358	93.66	gold quality
ileal mucosa	UBERON:0000331	93.57	gold quality
globus pallidus	UBERON:0001875	93.32	gold quality
epithelium of mammary gland	UBERON:0003244	93.32	silver quality
mammary duct	UBERON:0001765	93.31	gold quality
deltoid	UBERON:0001476	93.22	gold quality
gingival epithelium	UBERON:0001949	92.91	silver quality
cauda epididymis	UBERON:0004360	92.52	gold quality
tibialis anterior	UBERON:0001385	92.45	gold quality
pigmented layer of retina	UBERON:0001782	92.30	gold quality
right lobe of liver	UBERON:0001114	92.13	gold quality
medial globus pallidus	UBERON:0002477	91.97	gold quality
corpus epididymis	UBERON:0004359	91.96	gold quality
myocardium	UBERON:0002349	91.73	silver quality
vastus lateralis	UBERON:0001379	91.65	silver quality
parietal lobe	UBERON:0001872	91.54	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.54	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.49	gold quality
entorhinal cortex	UBERON:0002728	91.29	gold quality
amniotic fluid	UBERON:0000173	91.09	gold quality
quadriceps femoris	UBERON:0001377	91.00	silver quality
gingiva	UBERON:0001828	90.95	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.90	silver quality
epithelial cell of pancreas	CL:0000083	90.81	silver quality
colonic mucosa	UBERON:0000317	90.60	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.20	gold quality
postcentral gyrus	UBERON:0002581	90.09	gold quality
left ventricle myocardium	UBERON:0006566	89.99	gold quality
biceps brachii	UBERON:0001507	89.92	silver quality
liver	UBERON:0002107	89.84	gold quality
middle temporal gyrus	UBERON:0002771	89.13	gold quality
occipital lobe	UBERON:0002021	87.44	gold quality
mammary gland	UBERON:0001911	86.57	gold quality
superior frontal gyrus	UBERON:0002661	86.43	gold quality
thoracic mammary gland	UBERON:0005200	86.35	gold quality
esophagus squamous epithelium	UBERON:0006920	86.34	gold quality
placenta	UBERON:0001987	85.61	gold quality
oocyte	CL:0000023	85.52	silver quality
corpus callosum	UBERON:0002336	85.24	gold quality
cartilage tissue	UBERON:0002418	85.07	gold quality
cerebellar vermis	UBERON:0004720	85.05	silver quality
ganglionic eminence	UBERON:0004023	84.99	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	5223.04
E-ANND-3	yes	7.31
E-CURD-112	no	3.56

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Spinal cord	tissue	125.1
Corpus callosum	tissue	122.3
Medulla oblongata	tissue	92.1
Midbrain	tissue	74.7
Substantia nigra	tissue	72.7
Superior colliculi	tissue	66.5
Thalamus	tissue	60.0
Pons	tissue	56.8
Periaqueductal gray	tissue	42.9
Putamen	tissue	41.3
Ventral forebrain	tissue	34.0
Hypothalamus	tissue	32.9
Septum	tissue	30.2
Hippocampal formation	tissue	26.7
Cerebral cortex	tissue	22.1	medium
Occipital cortex	tissue	22.1
Somatosensory cortex	tissue	21.7
Retrosplenial cortex	tissue	20.7
Motor cortex	tissue	20.4
Entorhinal cortex	tissue	19.6
Amygdala	tissue	19.3
Olfactory bulb	tissue	17.8
Retrosplenial and cingulate cortex	tissue	17.5
Prefrontal cortex	tissue	17.1
Insular cortex	tissue	16.7
Temporal cortex	tissue	16.4
Cerebellum	tissue	15.7	medium
Basal ganglia	tissue	15.2	medium
Small intestine	tissue	8.9	medium
Choroid plexus	tissue	8.6
Locus coeruleus	tissue	7.8
Nucleus accumbens	tissue	7.6
Lymph node	tissue	6.9	not detected
Pituitary gland	tissue	6.5
Hippocampus	tissue	6.4	low
Liver	tissue	6.0	low
Spleen	tissue	4.8	medium
Gallbladder	tissue	4.5	medium
Testis	tissue	4.3	medium
Vagina	tissue	4.3	medium
Adrenal gland	tissue	4.2	medium
Duodenum	tissue	3.7	low
Thymus	tissue	3.7
Heart muscle	tissue	3.5	low
Ovary	tissue	3.5	not detected
Postcentral gyrus	tissue	3.5
Adipose tissue	tissue	3.3	low
Kidney	tissue	2.5	medium
Tonsil	tissue	2.4	medium
Lung	tissue	2.3	medium
Skin 1	tissue	2.2	medium
Retina	tissue	2.1
Placenta	tissue	2.1	medium
Appendix	tissue	2.1	medium
Endometrium 1	tissue	1.9	medium
Colon	tissue	1.8	medium
Pancreas	tissue	1.7	medium
Esophagus	tissue	1.5	medium
Salivary gland	tissue	1.5	low
Bone marrow	tissue	1.4	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Ventral spinal cord (125.1), White matter (122.3), Dorsal spinal cord (118.4), Dorsal hippocampus (26.7), Ventral hippocampus (20.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CCDC152 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 102 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349

Functional genomics

gnomAD constraint: pLI 0.000427, LOEUF 1.87, missense Z 0.266 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000361970 — one region, missense o/e 0.89.

Literature-anchored findings (GeneRIF, showing 1)

• Identification of a novel endogenous long non-coding RNA that inhibits selenoprotein P translation. (PMID:34142161)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc152	ENSMUSG00000091119
rattus_norvegicus	Ccdc152	ENSRNOG00000039473

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:3641617) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
small seminiferous tubules	1
decreased testis weight	1
teratozoospermia	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q32LM7	50.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
LINC02996	ncRNA	101926960
FBXO4	protein-coding	26272
GHR	protein-coding	2690
SELENOP	protein-coding	6414

Protein

Protein identifiers

Coiled-coil domain-containing protein 152 — Q4G0S7 (reviewed: Q4G0S7)

All UniProt accessions (1): Q4G0S7

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Detected in stomach.

Isoforms (2)

UniProt ID	Names	Canonical?
Q4G0S7-1	1	yes
Q4G0S7-2	2

RefSeq proteins (1): NP_001128320* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038827	CCDC152	Family

UniProt features (6 total): sequence conflict 2, chain 1, coiled-coil region 1, splice variant 1, sequence variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4G0S7-F1	87.17	0.71

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol

Antibody reliability (HPA): IH approved · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 52 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, LIU_COMMON_CANCER_GENES, LEE_DIFFERENTIATING_T_LYMPHOCYTE, CHAMP1_TARGET_GENES, IGLV5_37_TARGET_GENES, KAECH_NAIVE_VS_DAY15_EFF_CD8_TCELL_UP, MIR4422, MIR548AZ_5P, MIR548T_5P, MIR448, MIR511_5P, MIR8084, MIR4742_5P, MIR451B, MIR4318

GO Molecular Function (1): protein binding (GO:0005515)

GO top-level categories

1 GO namespaces:

Category	Terms
binding	1

Protein interactions and networks

STRING

showing 15 of 286 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC152	NT5DC1	Q5TFE4	589
CCDC152	DPY19L1	Q2PZI1	537
CCDC152	CYTH4	Q9UIA0	523
CCDC152	P4HTM	Q9NXG6	514
CCDC152	OSBPL8	Q9BZF1	489
CCDC152	WDR70	Q9NW82	486
CCDC152	ST3GAL1	Q11201	473
CCDC152	TMEM9	Q9P0T7	469
CCDC152	ARFGAP3	Q9NP61	461
CCDC152	ZBTB35	P52739	461
CCDC152	CPQ	Q9Y646	459
CCDC152	SELENOP	P49908	443
CCDC152	QTGAL	Q67FW5	426
CCDC152	LMF2	Q9BU23	426
CCDC152	SECISBP2	Q96T21	389

IntAct

Human interaction partners of CCDC152 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

4 partners by confidence:

Partner	Interaction type	MIscore	Records
CDC37	physical association	0.560	3
FARS2	physical association	0.560	3
NTAQ1	physical association	0.560	3
TXLNB	physical association	0.560	3

BioGRID (5 interactions; top human partners by supporting records): CDC37 (Two-hybrid), FARS2 (Two-hybrid), PARK2 (Affinity Capture-MS), TXLNB (Two-hybrid), WDYHV1 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for CCDC152: 64 ClinVar records (3 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	52
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (3)

Showing all 3 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
144612	GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1	Pathogenic	no assertion criteria provided	1
1710914	GRCh37/hg19 5p13.1-12(chr5:41879852-42906725)x1	Pathogenic	no assertion criteria provided	1
1710915	GRCh37/hg19 5p13.1-12(chr5:41879852-42913979)x1	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore CCDC152’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 885):

Position(s)	Effect	Δscore	Sites
5:42759118–42759119	acceptor_loss	1.0000	5
5:42759209–42759210	donor_loss	1.0000	4
5:42762441–42762442	acceptor_loss	1.0000	6
5:42796819	acceptor_gain	1.0000
5:42796957–42796958	donor_loss	1.0000	5
5:42759113	acceptor_gain	0.9900
5:42759119	acceptor_loss	0.9900
5:42759209	donor_loss	0.9900
5:42769594–42769596	acceptor_loss	0.9900	7
5:42769666–42769667	donor_loss	0.9900	5

AlphaMissense

113 missense substitutions predicted likely pathogenic (of 1,720 scored), across 59 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
K215	6	0.870	0.931
F24	5	0.827	0.913
R213	5	0.717	0.873
F187	4	0.797	0.831
F254	4	0.774	0.843
K223	4	0.756	0.890
Y212	4	0.740	0.891
I234	4	0.639	0.695
E226	4	0.608	0.650
L230	3	0.826	0.949
S210	3	0.786	0.786
L20	3	0.780	0.946
L216	3	0.730	0.944
E28	3	0.712	0.737
I211	3	0.702	0.746
E238	3	0.682	0.693
G75	3	0.660	0.696
H218	3	0.619	0.706
L76	2	0.800	0.966
R214	2	0.775	0.775

HPA cancer prognostics

RNA cancer specificity: Group enriched (Liver Hepatocellular Carcinoma, Prostate Adenocarcinoma, Uterine Corpus Endometrial Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Glioblastoma Multiforme (validation)	unfavorable	0.000323
Liver Hepatocellular Carcinoma (validation)	favorable	0.000565
Pancreatic Adenocarcinoma (TCGA)	favorable	0.000711

Disease associations

OMIM: gene MIM:621274 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST008839_119	Height	2e-24

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
lasiocarpine	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases 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
incobotulinumtoxinA	affects expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Formaldehyde	increases expression	1
Methotrexate	increases expression	1
Naphthoquinones	increases expression	1
Ozone	increases abundance, affects expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Triclosan	increases expression	1
Valproic Acid	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.