APOL4

Summary

APOL4 (apolipoprotein L4, HGNC:14867) is a protein-coding gene on chromosome 22q12.3, encoding Apolipoprotein L4 (Q9BPW4). May play a role in lipid exchange and transport throughout the body.

This gene encodes a member of the apolipoprotein L family. The encoded protein may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 80832 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 32 total
• GTEx eGene: eQTL in 49 tissues, sQTL in 21 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.86 (unconstrained)
• MANE Select transcript: NM_001386885

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14867
Approved symbol	APOL4
Name	apolipoprotein L4
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	APOLIV
Ensembl gene	ENSG00000100336
Ensembl biotype	protein_coding
OMIM	607254
Entrez	80832

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

MANE Select: ENST00000683024

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

ENST00000683024, ENST00000332987, ENST00000352371, ENST00000397275, ENST00000419360, ENST00000436763, ENST00000449084, ENST00000457630, ENST00000480236, ENST00000493203, ENST00000613247, ENST00000616056, ENST00000684666, ENST00000880614

RefSeq mRNA: 4 — MANE Select: NM_001386885 NM_001386885, NM_030643, NM_145660, NM_145661

CCDS: CCDS74851, CCDS74852, CCDS93158

Canonical transcript exons

ENST00000683024 — 4 exons

Exon	Start	End
ENSE00001742279	36189128	36191912
ENSE00003510938	36195311	36195437
ENSE00003513703	36199330	36199376
ENSE00003918914	36201700	36201809

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 86.29.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1849 / max 416.7855, expressed in 510 samples.

Highest expression (Bgee): adenohypophysis, uterine tube, tendon of biceps brachii, pituitary gland, pancreatic ductal cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

APOL4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 49 tissues and its splicing (sQTL) in 21 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 70 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	5.1e-83	-0.82	22:36201052:A:G
Adipose Subcutaneous	eqtl	5.9e-79	-0.63	22:36201831:G:A
Thyroid	eqtl	1.4e-64	-0.64	22:36201052:A:G
Esophagus Mucosa	eqtl	2.7e-64	+0.78	22:36205634:C:A
Nerve Tibial	eqtl	8.2e-53	-0.88	22:36201698:A:C
Artery Aorta	eqtl	7.0e-52	-0.74	22:36201052:A:G
Heart Atrial Appendage	eqtl	1.8e-46	-0.73	22:36201831:G:A
Adipose Visceral Omentum	eqtl	3.8e-46	-0.50	22:36201052:A:G
Muscle Skeletal	eqtl	1.4e-44	-0.85	22:36201698:A:C
Esophagus Muscularis	eqtl	3.7e-44	-0.67	22:36201052:A:G
Cells Cultured fibroblasts	eqtl	1.8e-41	-0.58	22:36201698:A:C
Breast Mammary Tissue	eqtl	2.2e-36	-0.76	22:36201698:A:C
Heart Left Ventricle	eqtl	6.4e-35	-0.99	22:36202599:G:A
Colon Transverse	eqtl	2.8e-34	-0.96	22:36201698:A:C
Esophagus Mucosa	sqtl	4.2e-33	-0.82	22:36206861:TTTGC:T
Lung	eqtl	1.1e-30	-0.97	22:36202255:C:T
Skin Sun Exposed Lower leg	eqtl	1.9e-30	-0.53	22:36200606:C:T
Skin Sun Exposed Lower leg	sqtl	8.7e-29	-0.73	22:36207248:G:A
Colon Sigmoid	eqtl	1.2e-28	-1.07	22:36201698:A:C
Esophagus Gastroesophageal Junction	eqtl	1.9e-26	-0.59	22:36201052:A:G

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
193867	2.9620	395
193868	0.6688	271
193866	0.3544	87
193865	0.1327	45
193869	0.0429	23
193870	0.0241	12

Top tissues by expression

showing 100 of 234 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	86.29	gold quality
right uterine tube	UBERON:0001302	85.78	gold quality
tendon of biceps brachii	UBERON:0008188	84.96	gold quality
pituitary gland	UBERON:0000007	83.65	gold quality
pancreatic ductal cell	CL:0002079	83.42	silver quality
omental fat pad	UBERON:0010414	81.47	gold quality
peritoneum	UBERON:0002358	81.42	gold quality
vermiform appendix	UBERON:0001154	80.83	gold quality
gall bladder	UBERON:0002110	80.45	gold quality
adipose tissue of abdominal region	UBERON:0007808	80.24	gold quality
prostate gland	UBERON:0002367	79.82	gold quality
ganglionic eminence	UBERON:0004023	78.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.48	gold quality
epithelial cell of pancreas	CL:0000083	78.39	gold quality
saliva-secreting gland	UBERON:0001044	78.30	gold quality
endometrium	UBERON:0001295	78.30	gold quality
minor salivary gland	UBERON:0001830	77.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	77.85	gold quality
subcutaneous adipose tissue	UBERON:0002190	77.79	gold quality
tibial nerve	UBERON:0001323	77.69	gold quality
colonic epithelium	UBERON:0000397	77.32	gold quality
upper lobe of left lung	UBERON:0008952	77.27	gold quality
apex of heart	UBERON:0002098	77.00	gold quality
urinary bladder	UBERON:0001255	76.17	gold quality
upper lobe of lung	UBERON:0008948	76.17	gold quality
smooth muscle tissue	UBERON:0001135	75.79	gold quality
left uterine tube	UBERON:0001303	75.77	gold quality
caecum	UBERON:0001153	75.66	gold quality
mouth mucosa	UBERON:0003729	75.56	gold quality
skin of abdomen	UBERON:0001416	74.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	74.86	gold quality
right lung	UBERON:0002167	74.80	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	74.73	gold quality
lymph node	UBERON:0000029	74.61	gold quality
granulocyte	CL:0000094	74.59	gold quality
tendon	UBERON:0000043	74.41	gold quality
skin of leg	UBERON:0001511	74.14	gold quality
rectum	UBERON:0001052	74.01	gold quality
uterus	UBERON:0000995	73.98	gold quality
body of uterus	UBERON:0009853	73.98	gold quality
monocyte	CL:0000576	73.91	gold quality
left coronary artery	UBERON:0001626	73.68	gold quality
body of stomach	UBERON:0001161	73.62	gold quality
leukocyte	CL:0000738	73.59	gold quality
adipose tissue	UBERON:0001013	73.58	gold quality
vagina	UBERON:0000996	73.41	gold quality
right ovary	UBERON:0002118	73.27	gold quality
stomach	UBERON:0000945	73.25	gold quality
heart left ventricle	UBERON:0002084	73.24	gold quality
right lobe of thyroid gland	UBERON:0001119	73.20	gold quality
left lobe of thyroid gland	UBERON:0001120	73.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	73.17	gold quality
left ovary	UBERON:0002119	73.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.98	gold quality
lower esophagus	UBERON:0013473	72.96	gold quality
lung	UBERON:0002048	72.77	gold quality
cardiac ventricle	UBERON:0002082	72.76	gold quality
ectocervix	UBERON:0012249	72.75	gold quality
esophagus	UBERON:0001043	72.62	gold quality
metanephros cortex	UBERON:0010533	72.56	gold quality
muscle layer of sigmoid colon	UBERON:0035805	72.51	gold quality
endocervix	UBERON:0000458	72.43	gold quality
esophagus mucosa	UBERON:0002469	72.43	gold quality
heart	UBERON:0000948	72.40	gold quality
right atrium auricular region	UBERON:0006631	72.36	gold quality
zone of skin	UBERON:0000014	72.23	gold quality
female reproductive system	UBERON:0000474	72.22	gold quality
small intestine	UBERON:0002108	72.10	gold quality
transverse colon	UBERON:0001157	72.00	gold quality
coronary artery	UBERON:0001621	71.94	gold quality
cardiac atrium	UBERON:0002081	71.71	gold quality
thyroid gland	UBERON:0002046	71.68	gold quality
spleen	UBERON:0002106	71.49	gold quality
calcaneal tendon	UBERON:0003701	71.49	gold quality
fallopian tube	UBERON:0003889	71.14	gold quality
descending thoracic aorta	UBERON:0002345	71.13	gold quality
uterine cervix	UBERON:0000002	71.06	gold quality
adult mammalian kidney	UBERON:0000082	70.88	gold quality
esophagus squamous epithelium	UBERON:0006920	70.53	silver quality
intestine	UBERON:0000160	70.48	gold quality
ovary	UBERON:0000992	70.38	gold quality
right lobe of liver	UBERON:0001114	70.11	gold quality
medial globus pallidus	UBERON:0002477	70.10	gold quality
thoracic aorta	UBERON:0001515	70.08	gold quality
colon	UBERON:0001155	70.07	gold quality
ascending aorta	UBERON:0001496	70.02	gold quality
large intestine	UBERON:0000059	69.77	gold quality
fundus of stomach	UBERON:0001160	69.68	gold quality
islet of Langerhans	UBERON:0000006	69.55	gold quality
aorta	UBERON:0000947	69.46	gold quality
tibial artery	UBERON:0007610	69.26	gold quality
popliteal artery	UBERON:0002250	69.23	gold quality
left adrenal gland	UBERON:0001234	69.04	gold quality
bone marrow cell	CL:0002092	68.68	silver quality
placenta	UBERON:0001987	68.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	68.11	gold quality
muscle of leg	UBERON:0001383	67.94	gold quality
ventricular zone	UBERON:0003053	67.86	gold quality
kidney	UBERON:0002113	67.77	gold quality
gastrocnemius	UBERON:0001388	67.75	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.64

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 61 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Cerebellum	tissue	22.5	not detected
Hypothalamus	tissue	22.0
Midbrain	tissue	21.3
Cerebral cortex	tissue	20.8	not detected
Medulla oblongata	tissue	20.5
Postcentral gyrus	tissue	19.3
Pons	tissue	19.0
Basal ganglia	tissue	18.2	not detected
Putamen	tissue	18.2
Hippocampal formation	tissue	18.1
Thalamus	tissue	17.7
Nucleus accumbens	tissue	17.4
Retrosplenial cortex	tissue	17.2
Occipital cortex	tissue	17.2
Amygdala	tissue	17.1
Spinal cord	tissue	16.8
Hippocampus	tissue	16.7	not detected
Substantia nigra	tissue	16.5
Locus coeruleus	tissue	15.4
Lung	tissue	14.0	not detected
Prostate	tissue	14.0	not detected
Choroid plexus	tissue	13.9
Urinary bladder	tissue	11.1	not detected
Gallbladder	tissue	6.6	not detected
Adipose tissue	tissue	6.3	not detected
Heart muscle	tissue	6.0	not detected
Breast	tissue	5.9	not detected
Lymph node	tissue	5.8	not detected
Appendix	tissue	5.8	not detected
Fallopian tube	tissue	5.7	not detected
Ovary	tissue	5.5	not detected
Stomach 1	tissue	5.3	not detected
Duodenum	tissue	5.3	not detected
Cervix	tissue	5.1	not detected
Endometrium 1	tissue	5.0	not detected
Kidney	tissue	4.7	not detected
Bone marrow	tissue	4.7	not detected
Small intestine	tissue	4.5	not detected
Esophagus	tissue	4.3	not detected
Rectum	tissue	4.1	not detected
Colon	tissue	3.9	not detected
Skin 1	tissue	3.4	not detected
Spleen	tissue	3.3	not detected
Retina	tissue	3.1
Placenta	tissue	3.0	not detected
Thymus	tissue	3.0
Seminal vesicle	tissue	2.9	not detected
Skeletal muscle	tissue	2.8	not detected
Tongue	tissue	2.8
Salivary gland	tissue	2.5	not detected
Adrenal gland	tissue	2.2	not detected
Liver	tissue	2.0	not detected
Tonsil	tissue	1.9	not detected
Smooth muscle	tissue	1.8	not detected
Vagina	tissue	1.6	not detected
Epididymis	tissue	1.6	not detected
Thyroid gland	tissue	1.6	not detected
Testis	tissue	1.5	not detected
Pancreas	tissue	1.3	not detected
Pituitary gland	tissue	1.0

Brain sub-regions (HPA Brain Atlas): detected in 185; highest nTPM — Flocculonodular lobe (22.5), Vermis (22.3), Arcuate nucleus (22.0), Preoptic area (21.4), Periaquaductal grey, dorsal (21.3).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

Targeting APOL4 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 96 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
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
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-539-5P	99.93	70.30	2855

Functional genomics

gnomAD constraint: pLI 3.82e-06, LOEUF 1.86, missense Z 0.237 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000683024 — one region, missense o/e 1.02.

Literature-anchored findings (GeneRIF, showing 2)

• APOL4 has been found only in humans and African green monkeys (PMID:11944986)
• An association of APOL1, 2 and 4 with schizophrenia was establised. (PMID:18632255)

Cross-species orthologs

19 orthologs

Organism	Symbol	Gene ID
mus_musculus	Apol7a	ENSMUSG00000010601
mus_musculus	Apol7c	ENSMUSG00000044309
mus_musculus	Apol10b	ENSMUSG00000050014
mus_musculus	Apol10a	ENSMUSG00000050982
mus_musculus	Apol9a	ENSMUSG00000057346
mus_musculus	Apol9b	ENSMUSG00000068246
mus_musculus	Apol7b	ENSMUSG00000068252
mus_musculus	Apol7e	ENSMUSG00000071716
mus_musculus	Apol11a	ENSMUSG00000091650
mus_musculus	Apol11b	ENSMUSG00000091694
rattus_norvegicus	Apol9a	ENSRNOG00000023410
rattus_norvegicus	Apol3l1	ENSRNOG00000042771
rattus_norvegicus	AABR07058479.1	ENSRNOG00000047414
rattus_norvegicus	Apol7bl1	ENSRNOG00000047782
rattus_norvegicus	Apol7a	ENSRNOG00000052981
rattus_norvegicus	LOC120093819	ENSRNOG00000069032
rattus_norvegicus	Apol11a	ENSRNOG00000081988
caenorhabditis_elegans		WBGENE00017219
caenorhabditis_elegans		WBGENE00017220

Paralogs (6): APOL1 (ENSG00000100342), APOL3 (ENSG00000128284), APOL5 (ENSG00000128313), APOL2 (ENSG00000128335), APOLD1 (ENSG00000178878), APOL6 (ENSG00000221963)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1923011) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal dendritic cell physiology	1
abnormal dendritic cell antigen presentation	1
increased heart left ventricle size	1

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
APOL2	protein-coding	23780
APOL1	protein-coding	8542
MIR6819	ncRNA	102465491
MYH9	protein-coding	4627
MYH9-DT	ncRNA	105377199

Protein

Protein identifiers

Apolipoprotein L4 — Q9BPW4 (reviewed: Q9BPW4)

Alternative names: Apolipoprotein L-IV

All UniProt accessions (6): Q9BPW4, B1AHJ0, B1AHJ2, E9PS31, F5H1P9, Q9BRG6

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver.

Subcellular location. Secreted.

Tissue specificity. Widely expressed; the highest levels are in spinal cord, placenta, adrenal gland; also detected in spleen, bone marrow, uterus, trachea, mammary gland and testis; levels are low in brain, heart and pancreas.

Similarity. Belongs to the apolipoprotein L family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BPW4-1	1, B	yes
Q9BPW4-2	2, A
Q9BPW4-3	3

RefSeq proteins (4): NP_001373814, NP_085146, NP_663693, NP_663694 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008405	ApoL	Family

Pfam: PF05461

UniProt features (10 total): sequence variant 6, splice variant 2, signal peptide 1, chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BPW4-F1	54.08	0.00

Human Protein Atlas

Protein class: Predicted membrane proteins, Predicted secreted proteins, Predicted intracellular proteins, Plasma proteins, Human disease related genes, Mental and behavioural disorders, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): vesicles

Antibody reliability (HPA): IH uncertain · IF supported

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: 73 (showing top): GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_LOCALIZATION, GOMF_LIPID_BINDING, MARTENS_TRETINOIN_RESPONSE_UP, MAFG_TARGET_GENES, SKIL_TARGET_GENES, MIR539_5P, MIR513B_5P, MIR3140_3P, MIR2110, MIR450A_2_3P, MIR149_5P, MIR4457, GSE11864_CSF1_IFNG_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP

GO Biological Process (3): lipid metabolic process (GO:0006629), lipid transport (GO:0006869), lipoprotein metabolic process (GO:0042157)

GO Molecular Function (2): lipid binding (GO:0008289), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

6 GO namespaces:

Category	Terms
binding	2
cellular anatomical structure	2
primary metabolic process	1
transport	1
lipid localization	1
protein metabolic process	1

Protein interactions and networks

STRING

showing 15 of 410 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APOL4	COMT	P21964	726
APOL4	CHRM4	P08173	515
APOL4	PRODH	O43272	504
APOL4	PRODH	O43272	487
APOL4	OR10H5	Q8NGA6	463
APOL4	PDE4B	Q07343	436
APOL4	OR10H1	Q9Y4A9	394
APOL4	NPIPB9	F8W1W9	390
APOL4	APOO	Q9BUR5	390
APOL4	SYN2	Q92777	369
APOL4	DISC1	Q9NRI5	356
APOL4	APOL5	Q9BWW9	351
APOL4	APOL6	Q9BWW8	346
APOL4	CFAP161	Q6P656	315
APOL4	NPIPB8	E9PQR5	307

IntAct

Human interaction partners of APOL4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
TFAP2C	physical association	0.370	1

BioGRID (2 interactions; top human partners by supporting records): LNX1 (Two-hybrid), NFYC (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for APOL4: 32 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	5
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 184):

Position(s)	Effect	Δscore	Sites
22:36195309–36195310	donor_loss	1.0000	4
22:36195438–36195439	acceptor_loss	1.0000	6
22:36195442	acceptor_gain	1.0000
22:36195310	donor_loss	0.9900
22:36195450	acceptor_gain	0.9900
22:36199554	donor_gain	0.9900
22:36201698–36201699	donor_loss	0.9900	5
22:36191913–36191914	acceptor_loss	0.9800	6
22:36191920	acceptor_gain	0.9800
22:36199378	acceptor_gain	0.9800

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:607254 | disease phenotypes:

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
Particulate Matter	increases abundance, increases expression	3
Vehicle Emissions	increases abundance, increases expression	2
Lead	affects expression, decreases expression	2
Nickel	increases expression	2
aristolochic acid I	increases expression	1
TL8-506	affects cotreatment, increases expression	1
propionaldehyde	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	increases methylation	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
theaflavin-3,3’-digallate	affects expression	1
Bortezomib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	increases expression, affects cotreatment	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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