ART4

Summary

ART4 (ADP-ribosyltransferase 4 (inactive) (Dombrock blood group), HGNC:726) is a protein-coding gene on chromosome 12p12.3, encoding Ecto-ADP-ribosyltransferase 4 (Q93070).

This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known.

Source: NCBI Gene 420 — RefSeq curated summary.

At a glance

• Gene–disease (curated): age related macular degeneration 8 (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 46 total
• GTEx eGene: eQTL in 7 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 0.90 (unconstrained)
• MANE Select transcript: NM_021071

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:726
Approved symbol	ART4
Name	ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
Location	12p12.3
Locus type	gene with protein product
Status	Approved
Aliases	DOK1, CD297, ARTC4
Ensembl gene	ENSG00000111339
Ensembl biotype	protein_coding
OMIM	110600
Entrez	420

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

MANE Select: ENST00000228936

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

ENST00000228936, ENST00000420600, ENST00000430129, ENST00000544616, ENST00001110940, ENST00001134633

RefSeq mRNA: 2 — MANE Select: NM_021071 NM_001354646, NM_021071

CCDS: CCDS8668

Canonical transcript exons

ENST00000228936 — 3 exons

Exon	Start	End
ENSE00000723031	14840445	14841153
ENSE00000915534	14842970	14843526
ENSE00001603649	14825569	14829462

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 84.96.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8424 / max 192.7353, expressed in 332 samples.

Highest expression (Bgee): liver, lobe of liver, coronary artery, atrium auricular region, thoracic aorta.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ART4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 7 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

7 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	2.8e-04	-0.14	12:14894462:T:C
Heart Atrial Appendage	eqtl	1.6e-03	+0.18	12:14917701:C:G
Thyroid	eqtl	3.1e-03	+0.17	12:14832270:C:T
Colon Transverse	eqtl	7.4e-03	+0.39	12:15679206:A:G
Artery Aorta	eqtl	1.7e-02	-0.14	12:14892493:T:C
Pituitary	eqtl	2.1e-02	+1.15	12:14314855:G:A
Spleen	eqtl	2.9e-02	+0.21	12:15077865:G:C

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
129856	1.1344	305
129857	0.6288	214
129858	0.0792	34

Top tissues by expression

showing 100 of 286 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
liver	UBERON:0002107	84.96	gold quality
right lobe of liver	UBERON:0001114	84.38	gold quality
right coronary artery	UBERON:0001625	82.75	gold quality
right atrium auricular region	UBERON:0006631	80.73	gold quality
thoracic aorta	UBERON:0001515	80.49	gold quality
ascending aorta	UBERON:0001496	80.28	gold quality
gall bladder	UBERON:0002110	80.23	gold quality
cardiac atrium	UBERON:0002081	79.95	gold quality
descending thoracic aorta	UBERON:0002345	79.18	gold quality
left coronary artery	UBERON:0001626	78.78	gold quality
trabecular bone tissue	UBERON:0002483	78.69	gold quality
spleen	UBERON:0002106	78.10	gold quality
lymph node	UBERON:0000029	78.00	gold quality
coronary artery	UBERON:0001621	77.83	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.08	gold quality
aorta	UBERON:0000947	76.35	gold quality
diaphragm	UBERON:0001103	75.39	gold quality
cardiac muscle of right atrium	UBERON:0003379	73.90	silver quality
popliteal artery	UBERON:0002250	73.53	gold quality
tibial artery	UBERON:0007610	73.53	gold quality
saphenous vein	UBERON:0007318	72.38	gold quality
heart	UBERON:0000948	72.18	gold quality
bone marrow	UBERON:0002371	71.87	gold quality
right lobe of thyroid gland	UBERON:0001119	70.68	gold quality
left ventricle myocardium	UBERON:0006566	70.39	gold quality
left lobe of thyroid gland	UBERON:0001120	70.10	gold quality
thyroid gland	UBERON:0002046	69.87	gold quality
right adrenal gland cortex	UBERON:0035827	68.86	gold quality
apex of heart	UBERON:0002098	68.65	gold quality
omental fat pad	UBERON:0010414	68.25	gold quality
peritoneum	UBERON:0002358	68.17	gold quality
heart left ventricle	UBERON:0002084	67.94	gold quality
right adrenal gland	UBERON:0001233	67.91	gold quality
bone marrow cell	CL:0002092	67.76	gold quality
cardiac ventricle	UBERON:0002082	67.56	gold quality
left adrenal gland cortex	UBERON:0035825	66.86	gold quality
adipose tissue of abdominal region	UBERON:0007808	66.74	gold quality
left adrenal gland	UBERON:0001234	66.55	gold quality
adrenal gland	UBERON:0002369	66.04	gold quality
adrenal cortex	UBERON:0001235	65.67	gold quality
upper lobe of left lung	UBERON:0008952	65.03	gold quality
upper lobe of lung	UBERON:0008948	64.81	gold quality
body of pancreas	UBERON:0001150	64.57	gold quality
right lung	UBERON:0002167	64.38	gold quality
left uterine tube	UBERON:0001303	63.67	gold quality
epithelial cell of pancreas	CL:0000083	63.56	silver quality
lower lobe of lung	UBERON:0008949	63.44	gold quality
pancreas	UBERON:0001264	63.04	gold quality
vena cava	UBERON:0004087	62.23	silver quality
lung	UBERON:0002048	61.99	gold quality
placenta	UBERON:0001987	61.94	gold quality
visceral pleura	UBERON:0002401	61.30	gold quality
amniotic fluid	UBERON:0000173	61.29	gold quality
adult mammalian kidney	UBERON:0000082	60.85	gold quality
superficial temporal artery	UBERON:0001614	60.71	gold quality
smooth muscle tissue	UBERON:0001135	60.70	gold quality
vermiform appendix	UBERON:0001154	59.75	gold quality
subcutaneous adipose tissue	UBERON:0002190	59.75	gold quality
islet of Langerhans	UBERON:0000006	59.29	gold quality
adipose tissue	UBERON:0001013	58.33	gold quality
connective tissue	UBERON:0002384	58.24	gold quality
adrenal tissue	UBERON:0018303	58.04	gold quality
caecum	UBERON:0001153	57.91	gold quality
endothelial cell	CL:0000115	57.61	gold quality
kidney	UBERON:0002113	57.25	gold quality
metanephros cortex	UBERON:0010533	56.92	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	56.47	gold quality
muscle tissue	UBERON:0002385	56.13	gold quality
hair follicle	UBERON:0002073	56.00	gold quality
pancreatic ductal cell	CL:0002079	55.82	silver quality
rectum	UBERON:0001052	55.56	gold quality
body of uterus	UBERON:0009853	55.54	gold quality
myometrium	UBERON:0001296	54.94	gold quality
cortex of kidney	UBERON:0001225	54.90	gold quality
pleura	UBERON:0000977	54.84	gold quality
lower esophagus muscularis layer	UBERON:0035833	54.63	gold quality
lower esophagus	UBERON:0013473	54.52	gold quality
metanephros	UBERON:0000081	54.51	gold quality
heart right ventricle	UBERON:0002080	54.40	silver quality
ectocervix	UBERON:0012249	54.23	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	54.06	gold quality
endometrium epithelium	UBERON:0004811	53.93	gold quality
endocervix	UBERON:0000458	53.88	gold quality
cerebellar vermis	UBERON:0004720	53.78	gold quality
fallopian tube	UBERON:0003889	53.70	gold quality
tonsil	UBERON:0002372	53.57	gold quality
deltoid	UBERON:0001476	53.42	gold quality
skin of hip	UBERON:0001554	52.33	gold quality
uterine cervix	UBERON:0000002	52.26	gold quality
quadriceps femoris	UBERON:0001377	52.19	gold quality
gastrocnemius	UBERON:0001388	52.09	gold quality
colonic epithelium	UBERON:0000397	52.07	gold quality
muscle of leg	UBERON:0001383	52.00	gold quality
muscle organ	UBERON:0001630	51.95	gold quality
calcaneal tendon	UBERON:0003701	51.86	gold quality
skeletal muscle tissue	UBERON:0001134	51.84	silver quality
metanephric glomerulus	UBERON:0004736	51.83	gold quality
kidney epithelium	UBERON:0004819	51.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	51.62	gold quality
right ovary	UBERON:0002118	51.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.07

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 73 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Liver	tissue	49.7
Spleen	tissue	17.9
Cerebellum	tissue	9.4
Olfactory bulb	tissue	9.3
Gallbladder	tissue	8.4
Lymph node	tissue	8.0
Amygdala	tissue	8.0
Cerebral cortex	tissue	7.7
Insular cortex	tissue	7.7
Retrosplenial and cingulate cortex	tissue	7.6
Retrosplenial cortex	tissue	7.5
Temporal cortex	tissue	7.4
Corpus callosum	tissue	7.3
Hippocampal formation	tissue	6.9
Entorhinal cortex	tissue	6.9
Basal ganglia	tissue	6.7
Prefrontal cortex	tissue	6.6
Placenta	tissue	6.5
Ventral forebrain	tissue	6.3
Somatosensory cortex	tissue	6.1
Motor cortex	tissue	5.9
Occipital cortex	tissue	5.9
Putamen	tissue	5.8
Periaqueductal gray	tissue	5.8
Septum	tissue	5.7
Heart muscle	tissue	5.6
Hypothalamus	tissue	5.1
Midbrain	tissue	4.7
Spinal cord	tissue	4.7
Substantia nigra	tissue	4.6
Medulla oblongata	tissue	4.4
Bone marrow	tissue	4.3
Thalamus	tissue	4.0
Superior colliculi	tissue	4.0
Pons	tissue	3.5
Kidney	tissue	3.4
Lung	tissue	3.0
Thyroid gland	tissue	2.8
Adrenal gland	tissue	2.6
Tonsil	tissue	2.2
Adipose tissue	tissue	2.1
Pancreas	tissue	2.1
Choroid plexus	tissue	2.0
Locus coeruleus	tissue	2.0
Fallopian tube	tissue	1.9
Thymus	tissue	1.8
Breast	tissue	1.7
Nucleus accumbens	tissue	1.7
Postcentral gyrus	tissue	1.7
Hippocampus	tissue	1.5
Smooth muscle	tissue	1.0
Appendix	tissue	1.0
Cervix	tissue	0.9
Esophagus	tissue	0.8
Ovary	tissue	0.7
Salivary gland	tissue	0.6
Colon	tissue	0.6
Urinary bladder	tissue	0.6
Vagina	tissue	0.5
Rectum	tissue	0.5

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Blood vessel (9.2), White matter (7.3), Subiculum (6.4), Ventral hippocampus (6.2), Dorsal hippocampus (5.2).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 0.00999, LOEUF 0.895, missense Z 0.444 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000228936 — one region, missense o/e 0.97.

Literature-anchored findings (GeneRIF, showing 7)

• Expression of ART4 was analyzed in mononuclear leukocytes. (PMID:16140404)
• Dombrock genotyping in a native Congolese cohort reveals two novel alleles. (PMID:19413734)
• The Dombrock blood group system (PMID:20932078)
• The production, serologic evaluation, and epitope mapping of ten murine monoclonal Dombrock antibodies. (PMID:23421541)
• Characterization of two novel DO*B alleles highlights the value of testing selected ethnic groups in understanding DO allele diversity. (PMID:25988428)
• A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family. (PMID:33206405)
• Development of DO*A and DO*B Allele Detections to Predict Transfusion-Induced Alloimmunization Risks in Thai Populations. (PMID:34655192)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-145b13.6	ENSDARG00000069998
mus_musculus	Art4	ENSMUSG00000030217
rattus_norvegicus	Art4	ENSRNOG00000005670

Paralogs (3): ART1 (ENSG00000129744), ART3 (ENSG00000156219), ART5 (ENSG00000167311)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1202710) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased red blood cell distribution width	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
Pan troglodytes	Q95NE0	99.4%	Diamond
Oryctolagus cuniculus	Q03515	81.3%	Diamond
Gallus gallus	P55806	81.1%	Diamond
Bos taurus	Q0VC22	67.9%	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
ERP27	protein-coding	121506
ARHGDIB	protein-coding	397
MGP	protein-coding	4256
C12orf60	protein-coding	144608
SMCO3	protein-coding	440087
WBP11	protein-coding	51729
H2AJ	protein-coding	55766
H4C16	protein-coding	121504

Protein

Protein identifiers

Ecto-ADP-ribosyltransferase 4 — Q93070 (reviewed: Q93070)

Alternative names: ADP-ribosyltransferase C2 and C3 toxin-like 4, Dombrock blood group carrier molecule, Mono(ADP-ribosyl)transferase 4, NAD(P)(+)–arginine ADP-ribosyltransferase 4

All UniProt accessions (4): H7C2G2, Q3KZ29, Q3KZ30, Q93070

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

Tissue specificity. Expressed in spleen and T-cells.

Polymorphism. Variations in the ART4 gene are the basis of the Dombrock blood group system (Do). ART4 carries two antithetical antigens (Do(a) and Do(b)) and 3 high-incidence antigens, Gregory (Gy(a)), Holley (Hy), and Joseph (Jo(a)). Do(a) and Do(b) differ by a single variation at position 265, with Asn-265 corresponding to Do(a) and Asp-265 (shown in this entry) to Do(b).

Similarity. Belongs to the Arg-specific ADP-ribosyltransferase family.

RefSeq proteins (2): NP_001341575, NP_066549* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000768	ART	Family
IPR050999	ADP-ribosyltransferase_ARG	Family

Pfam: PF01129

Catalyzed reactions (Rhea)

• L-arginyl-[protein] + NAD(+) = N(omega)-(ADP-D-ribosyl)-L-arginyl-[protein] + nicotinamide + H(+) (RHEA:19149)

UniProt features (23 total): sequence variant 6, glycosylation site 5, binding site 3, disulfide bond 2, sequence conflict 2, signal peptide 1, chain 1, propeptide 1, domain 1, lipid moiety-binding region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q93070-F1	81.00	0.57

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Transferases, Metabolic proteins, CD markers, Blood group antigen proteins, Predicted membrane proteins, Predicted secreted proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): rods & rings

Antibody reliability (HPA): 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.

Ligand- & substrate-binding residues (3)

Position	Role
126	NAD(+)
206	NAD(+)
240	NAD(+)

Post-translational modifications (1)

Type	Positions
Gpi-anchor amidated alanine	285

Disulfide bonds (2)

Type	Positions
Disulfide bond	69–280, 182–231

Glycosylation sites (5)

Type	Positions
N-linked (glcnac…) asparagine	222, 257, 274, 114, 178

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

ID	Pathway	Evidence
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins	curated
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—

MSigDB gene sets: 329 (showing top): PID_BCR_5PATHWAY, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, MORF_RAGE, GGGACCA_MIR133A_MIR133B, DAVIES_MULTIPLE_MYELOMA_VS_MGUS_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_RESPONSE_TO_PEPTIDE, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, MODULE_45, MORF_ATRX, RIZKI_TUMOR_INVASIVENESS_3D_DN, MORF_ESR1, MODULE_16, BROWNE_HCMV_INFECTION_48HR_DN, MODULE_120

GO Biological Process (1): arginine metabolic process (GO:0006525)

GO Molecular Function (5): NAD+ poly-ADP-ribosyltransferase activity (GO:0003950), nucleotidyltransferase activity (GO:0016779), NAD+-protein-arginine ADP-ribosyltransferase activity (GO:0106274), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): extracellular region (GO:0005576), plasma membrane (GO:0005886), side of membrane (GO:0098552)

Reactome top-level categories

2 top-level categories:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

11 GO namespaces:

Category	Terms
cellular anatomical structure	2
membrane	2
amino acid metabolic process	1
carboxylic acid metabolic process	1
pentosyltransferase activity	1
transferase activity, transferring phosphorus-containing groups	1
NAD+-protein mono-ADP-ribosyltransferase activity	1
catalytic activity	1
transferase activity	1
cell periphery	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

showing 15 of 192 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ART4	PCYOX1	Q9UHG3	473
ART4	PARP15	Q460N3	407
ART4	ART3	Q13508	382
ART4	PARP12	Q9H0J9	379
ART4	SMCO3	A2RU48	355
ART4	PARP8	Q8N3A8	349
ART4	PARP14	Q460N5	337
ART4	PARP16	Q8N5Y8	315
ART4	HPF1	Q9NWY4	309
ART4	PCYOX1L	Q8NBM8	294
ART4	ZC3HAV1	Q7Z2W4	286
ART4	PARP4	Q9UKK3	270
ART4	GDAP2	Q9NXN4	260
ART4	SPAG16	Q8N0X2	254
ART4	TYROBP	O43914	252

IntAct

Human interaction partners of ART4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
GPAA1	association	0.350	1

BioGRID (18 interactions; top human partners by supporting records): AMBRA1 (Affinity Capture-MS), APP (Reconstituted Complex), CANX (Affinity Capture-MS), GPAA1 (Affinity Capture-MS), GPM6A (Affinity Capture-MS), LINC00667 (Protein-RNA), MYC (Proximity Label-MS), PARP12 (Proximity Label-MS), PIGS (Affinity Capture-MS), PIGU (Affinity Capture-MS), PKD2 (Affinity Capture-MS), PSMD14 (Affinity Capture-MS), PTEN (Affinity Capture-MS), TMX1 (Affinity Capture-MS), TRIM21 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for ART4: 46 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	2
Benign	3

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 122):

Position(s)	Effect	Δscore	Sites
12:14841154–14841155	acceptor_loss	0.9900	6
12:14842968–14842969	donor_loss	0.9900	5
12:14842968	donor_loss	0.9600
12:14840568	donor_gain	0.9500
12:14839291	donor_gain	0.9300
12:14841156	acceptor_loss	0.9200
12:14843050	donor_gain	0.8900
12:14840493	donor_gain	0.8000
12:14842970	donor_loss	0.7900
12:14843469	donor_gain	0.7700

AlphaMissense

235 missense substitutions predicted likely pathogenic (of 2,070 scored), across 75 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
D64	8	0.803	0.867
F253	7	0.915	0.946
F207	7	0.875	0.964
C280	7	0.829	0.914
F154	7	0.822	0.955
W97	7	0.790	0.915
C69	7	0.787	0.878
C231	7	0.781	0.840
C182	7	0.765	0.849
D63	7	0.748	0.818
F156	7	0.733	0.913
E251	6	0.855	0.927
F204	6	0.794	0.909
Y66	5	0.883	0.916
S276	5	0.865	0.925
F62	5	0.859	0.940
K157	5	0.814	0.901
H160	5	0.732	0.835
F136	5	0.676	0.779
Y161	4	0.787	0.919

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Liver Hepatocellular Carcinoma)

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Breast Invasive Carcinoma (validation)	favorable	0.000148
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000763

Disease associations

OMIM: gene MIM:110600 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
age related macular degeneration 8	Moderate	Autosomal recessive

Mondo (1): age related macular degeneration 8 (MONDO:0013416)

GWAS associations

1 associations:

Study	Trait	p-value
GCST005830_56	Hand grip strength	1e-12

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0006941	grip strength measurement

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
Cyclosporine	decreases expression	3
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression	2
Estradiol	decreases expression	2
Valproic Acid	affects cotreatment, increases expression, decreases expression	2
dicrotophos	decreases expression	1
propionaldehyde	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects expression	1
perfluorooctanoic acid	decreases expression	1
ferrous chloride	increases expression	1
epigallocatechin gallate	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	decreases expression	1
bisphenol S	decreases expression	1
Acetylcysteine	decreases expression	1
Arsenic	affects methylation	1
Cytarabine	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	affects expression	1
Sodium Selenite	decreases expression	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E8VR	Jurkat-hART4	Cancer cell line	Male

Clinical trials (associated diseases)

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