CFAP36

Summary

CFAP36 (cilia and flagella associated protein 36, HGNC:30540) is a protein-coding gene on chromosome 2p16.1, encoding Cilia- and flagella-associated protein 36 (Q96G28). May act as an effector for ARL3.

Located in ciliary transition zone.

Source: NCBI Gene 112942 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 65 total
• GTEx eGene: eQTL in 14 tissues, sQTL in 6 (q < 0.05)
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 0.87 (unconstrained)
• MANE Select transcript: NM_080667
• Notable: 65 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30540
Approved symbol	CFAP36
Name	cilia and flagella associated protein 36
Location	2p16.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC15407, BARTL1
Ensembl gene	ENSG00000163001
Ensembl biotype	protein_coding
Entrez	112942

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 21 protein_coding, 10 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000349456

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

ENST00000349456, ENST00000339012, ENST00000403007, ENST00000406691, ENST00000407816, ENST00000481791, ENST00000490934, ENST00000904948, ENST00000904949, ENST00000904950, ENST00000904951, ENST00000904952, ENST00000924584, ENST00000924585, ENST00000959251, ENST00000959252, ENST00000959253, ENST00000979787, ENST00000979788, ENST00001039312, ENST00001039313, ENST00001039314, ENST00001039316, ENST00001039317, ENST00001039319, ENST00001039320, ENST00001102867, ENST00001105726, ENST00001116222, ENST00001121771, ENST00001123981, ENST00001128748, ENST00001141597

RefSeq mRNA: 2 — MANE Select: NM_080667 NM_001282761, NM_080667

CCDS: CCDS1854, CCDS62911

Canonical transcript exons

ENST00000349456 — 10 exons

Exon	Start	End
ENSE00001070505	55544220	55544369
ENSE00001070509	55528878	55528992
ENSE00001146757	55522102	55522166
ENSE00001739672	55523721	55523822
ENSE00001880981	55519718	55519916
ENSE00001913381	55544907	55545079
ENSE00003490464	55535712	55535763
ENSE00003578022	55543938	55544074
ENSE00003613074	55533873	55533960
ENSE00003670125	55537483	55537585

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.6260 / max 1062.1675, expressed in 1821 samples.

Highest expression (Bgee): testis, adenohypophysis, pituitary gland, uterine tube, calcaneal tendon.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP36 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 14 tissues and its splicing (sQTL) in 6 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

20 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Adipose Subcutaneous	eqtl	3.7e-09	-0.17	2:55566340:G:A
Lung	sqtl	4.3e-08	+0.50	2:55568421:C:T
Brain Cortex	sqtl	1.4e-06	+0.95	2:55440271:C:T
Nerve Tibial	eqtl	2.2e-05	-0.16	2:55569702:G:A
Breast Mammary Tissue	eqtl	4.2e-05	-0.16	2:55541747:G:T
Brain Cerebellum	eqtl	6.7e-05	+0.82	2:55459248:G:C
Brain Cortex	eqtl	1.6e-03	-0.13	2:55558388:A:T
Brain Hypothalamus	sqtl	2.0e-03	+0.72	2:55441868:T:A
Esophagus Mucosa	eqtl	2.1e-03	-0.15	2:55551753:A:AAAAT
Brain Cerebellar Hemisphere	eqtl	9.3e-03	+0.48	2:55699746:C:G
Lung	eqtl	1.1e-02	-0.12	2:55562278:T:C
Adipose Visceral Omentum	eqtl	1.1e-02	-0.10	2:55562278:T:C
Brain Nucleus accumbens basal ganglia	eqtl	1.7e-02	-0.13	2:55571801:G:T
Cells Cultured fibroblasts	eqtl	1.7e-02	-0.14	2:55008830:T:C
Brain Cerebellum	sqtl	1.9e-02	+0.50	2:55716611:C:T
Skin Not Sun Exposed Suprapubic	eqtl	2.2e-02	-0.10	2:55579148:T:G
Adipose Subcutaneous	sqtl	2.8e-02	+0.57	2:55486142:A:G
Artery Tibial	eqtl	3.1e-02	-0.11	2:55446815:T:C
Brain Frontal Cortex BA9	sqtl	3.7e-02	-2.12	2:55795703:G:A
Minor Salivary Gland	eqtl	4.4e-02	-0.75	2:54593746:C:A

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
20343	47.9097	1821
20342	1.7163	1078

Top tissues by expression

showing 100 of 256 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.67	gold quality
adenohypophysis	UBERON:0002196	98.60	gold quality
pituitary gland	UBERON:0000007	98.50	gold quality
right testis	UBERON:0004534	98.46	gold quality
right uterine tube	UBERON:0001302	97.81	gold quality
calcaneal tendon	UBERON:0003701	97.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.74	gold quality
nucleus accumbens	UBERON:0001882	97.69	gold quality
hypothalamus	UBERON:0001898	97.68	gold quality
right frontal lobe	UBERON:0002810	97.61	gold quality
anterior cingulate cortex	UBERON:0009835	97.52	gold quality
testis	UBERON:0000473	97.49	gold quality
caudate nucleus	UBERON:0001873	97.36	gold quality
putamen	UBERON:0001874	97.28	gold quality
islet of Langerhans	UBERON:0000006	97.27	gold quality
amygdala	UBERON:0001876	97.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.12	gold quality
prefrontal cortex	UBERON:0000451	96.99	gold quality
left ovary	UBERON:0002119	96.85	gold quality
left lobe of thyroid gland	UBERON:0001120	96.80	gold quality
pons	UBERON:0000988	96.79	gold quality
bronchial epithelial cell	CL:0002328	96.75	gold quality
right ovary	UBERON:0002118	96.59	gold quality
neocortex	UBERON:0001950	96.52	gold quality
thyroid gland	UBERON:0002046	96.51	gold quality
frontal cortex	UBERON:0001870	96.48	gold quality
bronchus	UBERON:0002185	96.42	gold quality
forebrain	UBERON:0001890	96.40	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.38	gold quality
right lobe of thyroid gland	UBERON:0001119	96.36	gold quality
endocervix	UBERON:0000458	96.32	gold quality
body of uterus	UBERON:0009853	96.32	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.31	gold quality
lower esophagus	UBERON:0013473	96.28	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.16	gold quality
tendon	UBERON:0000043	96.09	gold quality
mucosa of stomach	UBERON:0001199	96.00	gold quality
metanephros cortex	UBERON:0010533	95.99	gold quality
cerebral cortex	UBERON:0000956	95.93	gold quality
tibial nerve	UBERON:0001323	95.93	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.93	gold quality
brain	UBERON:0000955	95.92	gold quality
cortical plate	UBERON:0005343	95.92	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.85	gold quality
tendon of biceps brachii	UBERON:0008188	95.84	gold quality
substantia nigra	UBERON:0002038	95.78	gold quality
left coronary artery	UBERON:0001626	95.76	gold quality
tibial artery	UBERON:0007610	95.73	gold quality
popliteal artery	UBERON:0002250	95.71	gold quality
ovary	UBERON:0000992	95.70	gold quality
right coronary artery	UBERON:0001625	95.66	gold quality
ventricular zone	UBERON:0003053	95.57	gold quality
left uterine tube	UBERON:0001303	95.56	gold quality
sural nerve	UBERON:0015488	95.50	gold quality
aorta	UBERON:0000947	95.46	gold quality
descending thoracic aorta	UBERON:0002345	95.45	gold quality
midbrain	UBERON:0001891	95.39	gold quality
substantia nigra pars compacta	UBERON:0001965	95.36	gold quality
gall bladder	UBERON:0002110	95.35	gold quality
coronary artery	UBERON:0001621	95.33	gold quality
ascending aorta	UBERON:0001496	95.26	gold quality
thoracic aorta	UBERON:0001515	95.24	gold quality
Ammon’s horn	UBERON:0001954	95.22	gold quality
spinal cord	UBERON:0002240	95.19	gold quality
smooth muscle tissue	UBERON:0001135	95.09	gold quality
pancreas	UBERON:0001264	94.98	gold quality
body of pancreas	UBERON:0001150	94.83	gold quality
fallopian tube	UBERON:0003889	94.81	gold quality
right lung	UBERON:0002167	94.60	gold quality
superior vestibular nucleus	UBERON:0007227	94.51	gold quality
left adrenal gland cortex	UBERON:0035825	94.51	gold quality
body of stomach	UBERON:0001161	94.50	gold quality
cerebellar hemisphere	UBERON:0002245	94.49	gold quality
cerebellar cortex	UBERON:0002129	94.40	gold quality
left adrenal gland	UBERON:0001234	94.35	gold quality
temporal lobe	UBERON:0001871	94.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.24	gold quality
ectocervix	UBERON:0012249	94.17	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.05	gold quality
myometrium	UBERON:0001296	94.02	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.00	gold quality
prostate gland	UBERON:0002367	93.96	gold quality
right adrenal gland	UBERON:0001233	93.94	gold quality
adrenal cortex	UBERON:0001235	93.89	gold quality
peritoneum	UBERON:0002358	93.89	gold quality
omental fat pad	UBERON:0010414	93.89	gold quality
right adrenal gland cortex	UBERON:0035827	93.86	gold quality
ganglionic eminence	UBERON:0004023	93.78	gold quality
cortex of kidney	UBERON:0001225	93.72	gold quality
cerebellum	UBERON:0002037	93.70	gold quality
superior frontal gyrus	UBERON:0002661	93.69	gold quality
right atrium auricular region	UBERON:0006631	93.64	gold quality
postcentral gyrus	UBERON:0002581	93.62	gold quality
parietal lobe	UBERON:0001872	93.57	gold quality
adult mammalian kidney	UBERON:0000082	93.54	gold quality
stomach	UBERON:0000945	93.54	gold quality
uterus	UBERON:0000995	93.51	gold quality
uterine cervix	UBERON:0000002	93.49	gold quality
cartilage tissue	UBERON:0002418	93.40	gold quality
minor salivary gland	UBERON:0001830	93.35	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	28.72
E-ANND-3	yes	11.81
E-MTAB-9388	yes	7.03
E-MTAB-10137	yes	4.11
E-CURD-112	no	2.84

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	135.7	high
Retina	tissue	115.1
Pituitary gland	tissue	113.7
Caudate putamen	tissue	92.0
Frontal cortex	tissue	91.5
Choroid plexus	tissue	89.9
Postcentral gyrus	tissue	79.5
Parathyroid gland	tissue	73.3	low
Thyroid gland	tissue	72.9	medium
Epididymis	tissue	72.7	medium
Nucleus accumbens	tissue	66.7
Kidney	tissue	59.0	medium
Fallopian tube	tissue	58.6	medium
Locus coeruleus	tissue	57.2
Ovary	tissue	56.0	medium
Hippocampus	tissue	54.2	low
Breast	tissue	45.8	medium
Endometrium 1	tissue	44.1	low
Seminal vesicle	tissue	42.3	low
Cervix	tissue	40.3	medium
Adrenal gland	tissue	40.3	low
Prostate	tissue	39.0	low
Gallbladder	tissue	38.3	medium
Vagina	tissue	35.9	low
Smooth muscle	tissue	34.9	low
Cerebral cortex	tissue	31.6	medium
Occipital cortex	tissue	31.6
Stomach 1	tissue	31.5	medium
Urinary bladder	tissue	31.1	low
Somatosensory cortex	tissue	31.1
Prefrontal cortex	tissue	29.7
Pancreas	tissue	29.5	medium
Putamen	tissue	29.1
Heart muscle	tissue	29.0	low
Hippocampal formation	tissue	28.9
Retrosplenial and cingulate cortex	tissue	28.4
Motor cortex	tissue	28.3
Lung	tissue	28.0	high
Entorhinal cortex	tissue	27.7
Temporal cortex	tissue	27.4
Olfactory bulb	tissue	26.3
Basal ganglia	tissue	26.2	low
Retrosplenial cortex	tissue	25.7
Tongue	tissue	25.3
Septum	tissue	25.3
Ventral forebrain	tissue	24.2
Pons	tissue	24.1
Adipose tissue	tissue	23.9	low
Insular cortex	tissue	23.7
Cerebellum	tissue	23.6	low
Thalamus	tissue	23.2
Superior colliculi	tissue	22.6
Amygdala	tissue	22.5
Rectum	tissue	21.7	medium
Thymus	tissue	21.3
Midbrain	tissue	21.0
Hypothalamus	tissue	21.0
Esophagus	tissue	20.5	low
Lymph node	tissue	20.3	low
Colon	tissue	20.3	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Arcuate nucleus (80.3), Premotor cortex, ventral (71.8), Perirhinal gyrus (71.4), Olfactory tubercle (70.6), Nucleus of the diagonal band (70.3).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 0.0141, LOEUF 0.867, missense Z -0.504 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000349456 — one region, missense o/e 1.03.

Literature-anchored findings (GeneRIF, showing 1)

• The association between Yo and CCDC104 antibodies in paraneoplastic neurological syndromes may indicate functional similarities. (PMID:19680650)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap36	ENSDARG00000037079
mus_musculus	Cfap36	ENSMUSG00000020462
rattus_norvegicus	Cfap36	ENSRNOG00000003901
drosophila_melanogaster	CG14367	FBGN0038170
caenorhabditis_elegans		WBGENE00022435

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913994) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased body weight	1
decreased circulating alkaline phosphatase level	1
increased circulating sodium level	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	Q32PC9	98.8%	Diamond
Xenopus tropicalis	Q28IH8	85.8%	Diamond
Xenopus laevis	Q7T0S7	85.8%	Diamond
Gallus gallus	Q5ZKW5	80.3%	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
PPP4R3B	protein-coding	57223
PNPT1	protein-coding	87178
PPP4R3B-DT	ncRNA	107985885

Protein

Protein identifiers

Cilia- and flagella-associated protein 36 — Q96G28 (reviewed: Q96G28)

Alternative names: Coiled-coil domain-containing protein 104

All UniProt accessions (4): B5MC35, B5MCA1, B5MD16, Q96G28

UniProt curated annotations — full annotation on UniProt →

Function. May act as an effector for ARL3.

Subunit / interactions. Interacts with ARL3.

Subcellular location. Nucleus. Cytoplasm. Cell projection. Cilium. Flagellum.

Tissue specificity. Expressed in several human tissues including brain, testis, heart, lung, pancreas and spleen (at protein level).

Similarity. Belongs to the CFAP36 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96G28-1	1	yes
Q96G28-2	2

RefSeq proteins (2): NP_001269690, NP_542398* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR023379	BART_dom	Domain
IPR038888	CFAP36	Family
IPR042541	BART_sf	Homologous_superfamily

Pfam: PF11527

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

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96G28-F1	73.92	0.35

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol; nuclear bodies; nucleoli fibrillar center; primary cilium

Antibody reliability (HPA): IH approved · IF approved

Functional residue map

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

Post-translational modifications (3)

Type	Positions
Phosphoserine	201, 85, 147

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: 62 (showing top): CCAWYNNGAAR_UNKNOWN, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CILIARY_TRANSITION_ZONE, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_CILIARY_BASE, WGTTNNNNNAAA_UNKNOWN, GOCC_CILIUM, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, HAMAI_APOPTOSIS_VIA_TRAIL_UP, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, ZNF585B_TARGET_GENES, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2

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

GO Cellular Component (7): nucleus (GO:0005634), axoneme (GO:0005930), motile cilium (GO:0031514), ciliary transition zone (GO:0035869), ciliary base (GO:0097546), cytoplasm (GO:0005737), cilium (GO:0005929)

GO top-level categories

13 GO namespaces:

Category	Terms
cellular anatomical structure	4
cilium	3
binding	1
intracellular membrane-bounded organelle	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
ciliary transition zone	1
ciliary transition fiber	1
intracellular anatomical structure	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
ciliary transition zone	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 406 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP36	ARL3	P36405	643
CFAP36	FAM161B	Q96MY7	549
CFAP36	FAM81B	Q96LP2	526
CFAP36	ZCCHC17	Q9NP64	525
CFAP36	TTC29	Q8NA56	522
CFAP36	CCDC63	Q8NA47	505
CFAP36	IWS1	Q96ST2	478
CFAP36	CNOT10	Q9H9A5	477
CFAP36	RIBC2	Q9H4K1	472
CFAP36	SPICE1	Q8N0Z3	450
CFAP36	MKS1	Q9NXB0	448
CFAP36	VWA1	Q6PCB0	432
CFAP36	DNAAF9	Q5TEA3	409
CFAP36	ATP5PB	P24539	409
CFAP36	GAREM1	Q9H706	402

IntAct

Human interaction partners of CFAP36 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
SNTB2	association	0.620	2
DAZAP2	physical association	0.560	3
ARL2	association	0.530	1
FCHSD2	physical association	0.000	1
RAC1	physical association	0.000	1

BioGRID (35 interactions; top human partners by supporting records): ARL2 (Affinity Capture-MS; 3 records), KCTD10 (Affinity Capture-MS; 2 records), OSBPL9 (Affinity Capture-MS; 2 records), SNTB2 (Affinity Capture-MS; 2 records), UBC (Reconstituted Complex; 2 records), ACBD5 (Proximity Label-MS), ARL3 (Proximity Label-MS), BDH2 (Affinity Capture-MS), BRPF3 (Affinity Capture-MS), COX8A (Proximity Label-MS), DPP9 (Proximity Label-MS), FAS (Proximity Label-MS), FCHSD2 (Two-hybrid), HSPA1A (Affinity Capture-MS), MFN2 (Proximity Label-MS)

Disease & clinical

Genetic variants

Variant evidence for CFAP36: 65 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	1
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 32 predictions of 874):

Position(s)	Effect	Δscore	Sites
2:55519917–55519918	donor_loss	1.0000	5
2:55522095–55522097	acceptor_gain	1.0000	2
2:55522100	acceptor_loss	1.0000	3
2:55522167	donor_loss	1.0000	2
2:55523719–55523720	acceptor_loss	1.0000	4
2:55523822–55523824	donor_loss	1.0000	6
2:55529015	donor_gain	1.0000
2:55533871–55533872	acceptor_loss	1.0000	6
2:55533950	donor_gain	1.0000
2:55533961–55533962	donor_loss	1.0000	2

AlphaMissense

630 missense substitutions predicted likely pathogenic (of 2,278 scored), across 164 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
M113	9	0.966	0.997
F40	8	0.992	0.999
F109	8	0.990	0.999
N117	8	0.979	0.993
F32	8	0.955	0.997
F79	8	0.936	0.998
D41	8	0.882	0.963
W25	7	0.991	0.999
F106	7	0.988	0.998
F19	7	0.976	0.996
H54	7	0.969	0.998
W11	7	0.963	0.997
E45	7	0.957	0.979
D105	7	0.954	0.973
C37	7	0.923	0.996
R328	7	0.912	0.995
E153	7	0.895	0.959
E338	7	0.895	0.943
E34	7	0.855	0.971
M120	7	0.846	0.961

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

1 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000219

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST010002_46	Refractive error	3e-34

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	3
Cyclosporine	increases expression	3
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
K 7174	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	increases expression	1
Ivermectin	decreases expression	1
Rotenone	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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