CCDC191

Summary

CCDC191 (coiled-coil domain containing 191, HGNC:29272) is a protein-coding gene on chromosome 3q13.31, encoding Coiled-coil domain-containing protein 191 (Q8NCU4).

At a glance

• Clinical variants (ClinVar): 151 total — 1 pathogenic
• GTEx eGene: eQTL in 17 tissues, sQTL in 8 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.03 (unconstrained)
• MANE Select transcript: NM_020817
• Notable: 151 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29272
Approved symbol	CCDC191
Name	coiled-coil domain containing 191
Location	3q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163617
Ensembl biotype	protein_coding
Entrez	57577

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000295878

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2, TSL 3: 2, TSL 4: 1, TSL 5: 2

ENST00000295878, ENST00000460813, ENST00000463695, ENST00000480588, ENST00000481358, ENST00000483766, ENST00000491000, ENST00000527855, ENST00000907458, ENST00000907459, ENST00000918262, ENST00000955809, ENST00000955810, ENST00000980234, ENST00000980235, ENST00001013641, ENST00001112084, ENST00001140921

RefSeq mRNA: 3 — MANE Select: NM_020817 NM_001353766, NM_001353767, NM_020817

CCDS: CCDS2977

Canonical transcript exons

ENST00000295878 — 17 exons

Exon	Start	End
ENSE00001241468	113978186	113978331
ENSE00001241499	114004637	114004746
ENSE00001241569	113964137	113965359
ENSE00001241579	114056377	114056526
ENSE00003486443	114053597	114053635
ENSE00003488467	114002456	114002538
ENSE00003500847	114034925	114035148
ENSE00003517551	114018678	114018868
ENSE00003525315	114046591	114046732
ENSE00003543984	114031626	114031779
ENSE00003554165	114036608	114036786
ENSE00003557259	114010772	114011021
ENSE00003561892	113980650	113980793
ENSE00003568361	113978858	113979010
ENSE00003578327	114042703	114042846
ENSE00003664534	114001595	114001696
ENSE00003785323	114005508	114005962

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 94.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9145 / max 108.5483, expressed in 1362 samples.

Highest expression (Bgee): uterine tube, bronchial epithelial cell, bronchus, sural nerve, male germ line stem cell (sensu Vertebrata) in testis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CCDC191 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 17 tissues and its splicing (sQTL) in 8 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 25 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Thyroid	sqtl	4.0e-06	+0.38	3:114059610:A:AT
Artery Aorta	eqtl	6.6e-05	-0.54	3:114098076:G:T
Pituitary	eqtl	4.1e-04	+0.18	3:113984127:C:T
Artery Tibial	eqtl	4.7e-04	-0.40	3:114098076:G:T
Lung	eqtl	5.3e-04	-0.44	3:113968024:C:T
Skin Not Sun Exposed Suprapubic	sqtl	1.6e-03	+0.94	3:113556694:T:A
Testis	eqtl	2.2e-03	-0.59	3:113968024:C:T
Adipose Subcutaneous	eqtl	3.2e-03	-0.33	3:114098076:G:T
Nerve Tibial	eqtl	3.5e-03	-0.32	3:114098076:G:T
Brain Anterior cingulate cortex BA24	eqtl	3.8e-03	-1.03	3:114577878:C:T
Pituitary	sqtl	5.2e-03	+0.45	3:114017719:C:T
Brain Nucleus accumbens basal ganglia	eqtl	5.5e-03	+0.73	3:113975062:T:TA
Skin Sun Exposed Lower leg	sqtl	1.1e-02	-1.17	3:114117769:C:T
Thyroid	eqtl	1.4e-02	+0.20	3:114056663:T:G
Esophagus Muscularis	eqtl	1.5e-02	+0.08	3:114111785:C:G
Cells Cultured fibroblasts	eqtl	1.7e-02	+0.25	3:113874564:T:C
Testis	sqtl	2.0e-02	+0.51	3:113985836:C:T
Nerve Tibial	sqtl	2.4e-02	+0.90	3:113607713:G:A
Brain Caudate basal ganglia	eqtl	2.6e-02	-0.28	3:114168417:T:C
Whole Blood	eqtl	2.7e-02	-0.39	3:114098076:G:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
43863	3.9145	1362

Top tissues by expression

showing 100 of 249 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.82	gold quality
bronchial epithelial cell	CL:0002328	92.30	gold quality
bronchus	UBERON:0002185	90.86	gold quality
sural nerve	UBERON:0015488	90.74	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.39	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.25	gold quality
calcaneal tendon	UBERON:0003701	84.53	gold quality
adenohypophysis	UBERON:0002196	84.06	gold quality
kidney epithelium	UBERON:0004819	83.99	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.91	gold quality
caput epididymis	UBERON:0004358	83.86	gold quality
pituitary gland	UBERON:0000007	83.72	gold quality
left lobe of thyroid gland	UBERON:0001120	82.94	gold quality
thyroid gland	UBERON:0002046	82.64	gold quality
right testis	UBERON:0004534	82.03	gold quality
right lobe of thyroid gland	UBERON:0001119	81.98	gold quality
metanephros cortex	UBERON:0010533	81.92	gold quality
left testis	UBERON:0004533	81.88	gold quality
testis	UBERON:0000473	81.17	gold quality
ventricular zone	UBERON:0003053	81.02	gold quality
tibial nerve	UBERON:0001323	79.94	gold quality
epithelium of nasopharynx	UBERON:0001951	79.62	gold quality
nasopharynx	UBERON:0001728	79.61	gold quality
body of pancreas	UBERON:0001150	79.44	gold quality
fallopian tube	UBERON:0003889	78.89	gold quality
left ovary	UBERON:0002119	78.62	gold quality
body of uterus	UBERON:0009853	78.17	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	78.09	gold quality
endocervix	UBERON:0000458	78.00	gold quality
metanephros	UBERON:0000081	77.81	gold quality
skin of abdomen	UBERON:0001416	77.56	gold quality
right ovary	UBERON:0002118	77.47	gold quality
right adrenal gland cortex	UBERON:0035827	77.45	gold quality
cortex of kidney	UBERON:0001225	77.17	gold quality
spleen	UBERON:0002106	77.15	gold quality
right lung	UBERON:0002167	77.05	gold quality
pancreas	UBERON:0001264	77.00	gold quality
right adrenal gland	UBERON:0001233	76.80	gold quality
left uterine tube	UBERON:0001303	76.57	gold quality
hypothalamus	UBERON:0001898	76.56	gold quality
skin of leg	UBERON:0001511	76.52	gold quality
spinal cord	UBERON:0002240	76.42	gold quality
adrenal tissue	UBERON:0018303	76.40	gold quality
rectum	UBERON:0001052	76.37	gold quality
caudate nucleus	UBERON:0001873	76.26	gold quality
corpus epididymis	UBERON:0004359	76.24	gold quality
minor salivary gland	UBERON:0001830	76.23	gold quality
skin of hip	UBERON:0001554	76.19	silver quality
nucleus accumbens	UBERON:0001882	76.14	gold quality
ectocervix	UBERON:0012249	75.99	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.96	gold quality
muscle layer of sigmoid colon	UBERON:0035805	75.90	gold quality
bone marrow	UBERON:0002371	75.81	gold quality
ovary	UBERON:0000992	75.78	gold quality
gall bladder	UBERON:0002110	75.72	gold quality
zone of skin	UBERON:0000014	75.70	gold quality
left adrenal gland cortex	UBERON:0035825	75.70	gold quality
endometrium	UBERON:0001295	75.52	gold quality
left adrenal gland	UBERON:0001234	75.42	gold quality
corpus callosum	UBERON:0002336	75.33	gold quality
bone marrow cell	CL:0002092	75.20	gold quality
seminal vesicle	UBERON:0000998	75.20	gold quality
lower esophagus	UBERON:0013473	75.19	gold quality
lower esophagus muscularis layer	UBERON:0035833	75.17	gold quality
vermiform appendix	UBERON:0001154	75.15	gold quality
amygdala	UBERON:0001876	75.09	gold quality
nasal cavity mucosa	UBERON:0001826	75.04	gold quality
lower esophagus mucosa	UBERON:0035834	75.04	gold quality
uterine cervix	UBERON:0000002	75.02	gold quality
right frontal lobe	UBERON:0002810	75.02	gold quality
uterus	UBERON:0000995	74.97	gold quality
transverse colon	UBERON:0001157	74.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	74.96	gold quality
smooth muscle tissue	UBERON:0001135	74.92	gold quality
adrenal cortex	UBERON:0001235	74.89	gold quality
adult mammalian kidney	UBERON:0000082	74.83	gold quality
adrenal gland	UBERON:0002369	74.72	gold quality
kidney	UBERON:0002113	74.63	gold quality
putamen	UBERON:0001874	74.50	gold quality
upper leg skin	UBERON:0004262	74.48	silver quality
small intestine	UBERON:0002108	74.41	gold quality
oviduct epithelium	UBERON:0004804	74.41	gold quality
right coronary artery	UBERON:0001625	74.39	gold quality
urinary bladder	UBERON:0001255	74.28	gold quality
mouth mucosa	UBERON:0003729	74.25	gold quality
Brodmann (1909) area 9	UBERON:0013540	74.20	gold quality
islet of Langerhans	UBERON:0000006	74.12	gold quality
anterior cingulate cortex	UBERON:0009835	74.10	gold quality
subcutaneous adipose tissue	UBERON:0002190	74.06	gold quality
upper lobe of left lung	UBERON:0008952	74.06	gold quality
lymph node	UBERON:0000029	73.82	gold quality
body of stomach	UBERON:0001161	73.79	gold quality
tibial artery	UBERON:0007610	73.76	gold quality
popliteal artery	UBERON:0002250	73.74	gold quality
intestine	UBERON:0000160	73.70	gold quality
mucosa of stomach	UBERON:0001199	73.70	gold quality
prostate gland	UBERON:0002367	73.63	gold quality
esophagus	UBERON:0001043	73.62	gold quality
female reproductive system	UBERON:0000474	73.60	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	55.64
E-ANND-3	yes	9.43
E-MTAB-6058	no	217.88
E-MTAB-6379	no	174.24

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	23.1
Retina	tissue	13.0
Periaqueductal gray	tissue	11.4
Fallopian tube	tissue	11.4	low
Corpus callosum	tissue	11.1
Pituitary gland	tissue	10.6
Amygdala	tissue	10.1
Septum	tissue	9.9
Putamen	tissue	9.8
Cerebral cortex	tissue	9.6	medium
Basal ganglia	tissue	9.6	medium
Hippocampal formation	tissue	9.6
Ventral forebrain	tissue	9.6
Occipital cortex	tissue	9.6
Entorhinal cortex	tissue	9.3
Olfactory bulb	tissue	9.2
Prefrontal cortex	tissue	9.1
Retrosplenial cortex	tissue	9.1
Somatosensory cortex	tissue	9.0
Hypothalamus	tissue	8.9
Retrosplenial and cingulate cortex	tissue	8.9
Temporal cortex	tissue	8.9
Insular cortex	tissue	8.9
Testis	tissue	8.6	medium
Motor cortex	tissue	8.6
Superior colliculi	tissue	8.6
Medulla oblongata	tissue	8.3
Pons	tissue	8.1
Midbrain	tissue	8.1
Substantia nigra	tissue	8.0
Spinal cord	tissue	7.9
Thalamus	tissue	7.8
Parathyroid gland	tissue	7.5	medium
Epididymis	tissue	7.4	not detected
Skin 1	tissue	7.2	not detected
Thyroid gland	tissue	6.8	medium
Nucleus accumbens	tissue	6.3
Locus coeruleus	tissue	5.8
Hippocampus	tissue	5.7	medium
Cerebellum	tissue	5.4	medium
Endometrium 1	tissue	5.0	medium
Seminal vesicle	tissue	4.5	medium
Breast	tissue	4.4	low
Lung	tissue	4.4	medium
Spleen	tissue	4.4	low
Postcentral gyrus	tissue	4.3
Lymph node	tissue	4.1	not detected
Kidney	tissue	4.1	medium
Tonsil	tissue	3.8	not detected
Ovary	tissue	3.5	not detected
Prostate	tissue	3.5	not detected
Vagina	tissue	3.3	low
Gallbladder	tissue	3.3	medium
Cervix	tissue	3.1	low
Rectum	tissue	3.0	medium
Appendix	tissue	3.0	medium
Stomach 1	tissue	2.9	medium
Pancreas	tissue	2.8	medium
Bone marrow	tissue	2.7	low
Thymus	tissue	2.6

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — White matter (11.1), Nucleus tractus solitarii (10.7), Periaquaductal grey, lateral (10.5), Periaquaductal grey, dorsal (10.1), Dorsal hippocampus (9.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CCDC191 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 59 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-10401-5P	99.99	65.79	948
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-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-369-3P	99.85	70.52	2264
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
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-363-5P	99.46	64.51	1015

Functional genomics

gnomAD constraint: pLI 1.42e-22, LOEUF 1.03, missense Z 1.52 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000295878 — one region, missense o/e 0.90.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc191	ENSDARG00000027851
mus_musculus	Ccdc191	ENSMUSG00000022701
rattus_norvegicus	Ccdc191	ENSRNOG00000057815
drosophila_melanogaster	CG17258	FBGN0031496

Paralogs (1): SFI1 (ENSG00000198089)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1922661) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
male infertility	1
mydriasis	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
Macaca fascicularis	Q95KD7	91.1%	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
ZDHHC23	protein-coding	254887
GRAMD1C	protein-coding	54762
QTRT2	protein-coding	79691
ATP6V1A	protein-coding	523
DRD3	protein-coding	1814
NAA50	protein-coding	80218

Protein

Protein identifiers

Coiled-coil domain-containing protein 191 — Q8NCU4 (reviewed: Q8NCU4)

All UniProt accessions (5): Q8NCU4, C9JA89, F8WCI8, F8WF68, H7C553

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NCU4-1	1	yes
Q8NCU4-2	2

RefSeq proteins (3): NP_001340695, NP_001340696, NP_065868* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR052270	SFI1-like	Family

UniProt features (15 total): coiled-coil region 4, region of interest 3, splice variant 3, sequence variant 2, compositionally biased region 2, chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCU4-F1	72.36	0.39

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): mitochondria

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: 88 (showing top): CAGCTG_AP4_Q5, AACWWCAANK_UNKNOWN, MYOD_01, MYCMAX_01, GRADE_COLON_AND_RECTAL_CANCER_UP, TGGAAA_NFAT_Q4_01, MYCMAX_03, MAX_01, AR_Q6, AP4_Q6_01, GKCGCNNNNNNNTGAYG_UNKNOWN, KIM_MYCN_AMPLIFICATION_TARGETS_DN, GSE14415_INDUCED_TREG_VS_TCONV_DN, BARX1_TARGET_GENES, CIITA_TARGET_GENES

Protein interactions and networks

STRING

showing 15 of 156 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC191	FBXW10B	O95170	465
CCDC191	FAM9C	Q8IZT9	444
CCDC191	STK24	Q9Y6E0	410
CCDC191	LNX1	Q8TBB1	409
CCDC191	BTBD16	Q32M84	386
CCDC191	CDK20	Q8IZL9	385
CCDC191	CIBAR2	Q6ZTR7	380
CCDC191	FBXW10	Q5XX13	351
CCDC191	ARL4D	P49703	335
CCDC191	RALGAPA1	Q6GYQ0	295
CCDC191	RASSF6	Q6ZTQ3	286
CCDC191	CLCN4	P51793	280
CCDC191	SSPN	Q14714	277
CCDC191	CENPM	Q9NSP4	269
CCDC191	WBP2	Q969T9	260

IntAct

Human interaction partners of CCDC191 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
EEF1A1	physical association	0.400	1
RPN1	physical association	0.400	1

Disease & clinical

Genetic variants

Variant evidence for CCDC191: 151 ClinVar records (1 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	114
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Showing all 1 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
1077161	GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore CCDC191’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; 30 predictions of 1,722):

Position(s)	Effect	Δscore	Sites
3:113978332–113978333	acceptor_loss	1.0000	6
3:113978338	acceptor_gain	1.0000
3:113978346	acceptor_gain	1.0000
3:113978856–113978857	donor_loss	1.0000	5
3:113980648–113980649	donor_loss	1.0000	4
3:113980794–113980795	acceptor_loss	1.0000	5
3:113980804	acceptor_gain	1.0000
3:114001593–114001594	donor_loss	1.0000	5
3:114008494	donor_gain	1.0000
3:114018688	donor_gain	1.0000

AlphaMissense

535 missense substitutions predicted likely pathogenic (of 6,226 scored), across 228 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
M192	8	0.825	0.938
W333	7	0.930	0.986
W363	7	0.921	0.978
W757	7	0.907	0.984
W409	7	0.895	0.968
W353	7	0.889	0.960
W879	7	0.849	0.942
R195	6	0.888	0.980
F910	6	0.834	0.952
W98	6	0.818	0.905
D187	6	0.804	0.845
M661	6	0.789	0.894
H196	6	0.762	0.925
W845	6	0.755	0.931
M433	6	0.703	0.727
M253	6	0.673	0.744
F137	5	0.870	0.951
R664	5	0.855	0.950
F156	5	0.845	0.941
F330	5	0.842	0.900

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Papillary Cell Carcinoma (TCGA)	favorable	0.000134
Rectum Adenocarcinoma (TCGA)	favorable	0.000524

Disease associations

OMIM: gene `` | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
Acetaminophen	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
2-palmitoylglycerol	increases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	decreases expression	1
Estradiol	affects expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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