RALY

Summary

RALY (RALY heterogeneous nuclear ribonucleoprotein, HGNC:15921) is a protein-coding gene on chromosome 20q11.22, encoding RNA-binding protein Raly (Q9UKM9). RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver.

This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 22913 — RefSeq curated summary.

At a glance

• GWAS associations: 34
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_016732

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15921
Approved symbol	RALY
Name	RALY heterogeneous nuclear ribonucleoprotein
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Aliases	P542, HNRPCL2
Ensembl gene	ENSG00000125970
Ensembl biotype	protein_coding
OMIM	614663
Entrez	22913

Gene structure

Transcript identifiers

Ensembl transcripts: 63 — 59 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000246194, ENST00000333552, ENST00000375114, ENST00000413297, ENST00000442805, ENST00000448364, ENST00000481580, ENST00000488227, ENST00000489384, ENST00000493399, ENST00000874580, ENST00000874581, ENST00000874582, ENST00000874583, ENST00000874584, ENST00000874585, ENST00000874586, ENST00000874587, ENST00000874588, ENST00000874589, ENST00000874590, ENST00000874591, ENST00000874592, ENST00000874593, ENST00000874594, ENST00000874595, ENST00000874596, ENST00000874597, ENST00000874598, ENST00000874599, ENST00000874600, ENST00000874601, ENST00000874602, ENST00000874603, ENST00000874604, ENST00000874605, ENST00000935200, ENST00000935201, ENST00000935202, ENST00000935203, ENST00000935204, ENST00000935205, ENST00000935206, ENST00000935207, ENST00000935208, ENST00000935209, ENST00000935210, ENST00000935211, ENST00000935212, ENST00000941717, ENST00000941718, ENST00000941719, ENST00000941720, ENST00000941721, ENST00000941722, ENST00000941723, ENST00000941724, ENST00000941725, ENST00000941726, ENST00000941727, ENST00000941728, ENST00000941729, ENST00000941730

RefSeq mRNA: 2 — MANE Select: NM_016732 NM_007367, NM_016732

CCDS: CCDS13229, CCDS13230

Canonical transcript exons

ENST00000246194 — 10 exons

Exon	Start	End
ENSE00000860072	34072066	34072330
ENSE00000860080	34077028	34077245
ENSE00001048925	34031522	34031604
ENSE00001694065	34079910	34084884
ENSE00001830112	33993911	33994131
ENSE00003473979	34075874	34076040
ENSE00003484686	34073563	34073635
ENSE00003536615	34078505	34078553
ENSE00003608520	34076702	34076815
ENSE00003629126	34073819	34073866

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 112.5899 / max 383.1779, expressed in 1825 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184193	41.8130	1816
184190	24.7855	1796
184197	15.7086	1804
184191	13.6726	1782
184194	4.7068	1704
184196	3.9968	1673
184192	3.9147	1691
184188	2.3026	1372
184195	0.9564	588
184189	0.7330	459

Top tissues by expression

301 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	98.85	gold quality
granulocyte	CL:0000094	98.70	gold quality
ventricular zone	UBERON:0003053	98.59	gold quality
right lobe of thyroid gland	UBERON:0001119	98.36	gold quality
mucosa of transverse colon	UBERON:0004991	98.32	gold quality
left lobe of thyroid gland	UBERON:0001120	98.25	gold quality
left testis	UBERON:0004533	98.20	gold quality
right testis	UBERON:0004534	98.18	gold quality
transverse colon	UBERON:0001157	98.17	gold quality
ascending aorta	UBERON:0001496	98.15	gold quality
popliteal artery	UBERON:0002250	98.15	gold quality
tibial artery	UBERON:0007610	98.15	gold quality
thoracic aorta	UBERON:0001515	98.14	gold quality
descending thoracic aorta	UBERON:0002345	98.13	gold quality
aorta	UBERON:0000947	98.07	gold quality
right lung	UBERON:0002167	98.04	gold quality
apex of heart	UBERON:0002098	98.03	gold quality
right coronary artery	UBERON:0001625	97.92	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.92	gold quality
cortical plate	UBERON:0005343	97.92	gold quality
upper lobe of left lung	UBERON:0008952	97.91	gold quality
ectocervix	UBERON:0012249	97.91	gold quality
endocervix	UBERON:0000458	97.90	gold quality
minor salivary gland	UBERON:0001830	97.90	gold quality
skin of leg	UBERON:0001511	97.88	gold quality
left coronary artery	UBERON:0001626	97.82	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.81	gold quality
right ovary	UBERON:0002118	97.80	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.74	gold quality
left ovary	UBERON:0002119	97.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-122	yes	23.62
E-MTAB-10553	yes	8.09
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

122 targeting RALY, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6762-3P	99.66	66.94	1188

Literature-anchored findings (GeneRIF, showing 13)

• People with lower level of RALYL expression had a poorer survival rate. (PMID:22994768)
• RALY is a poly-U binding protein and as a regulator of H1FX and ANXA1 in mammalian cells. (PMID:28379492)
• RALY promotes Protein Arginine Methyltransferase 1 alternatively spliced isoform v2 relative expression and metastatic potential in breast cancer cells (PMID:28733251)
• hnRNP RALY regulates (PMID:28972179)
• RALY regulates PRMT1 expression and interacts with the amyotrophic lateral sclerosis-linked protein FUS. (PMID:30354839)
• RALY may cause an aggressive biological behavior and a dismal prognosis in non-small-cell lung cancer. (PMID:32014444)
• RNA-binding protein RALY reprogrammes mitochondrial metabolism via mediating miRNA processing in colorectal cancer. (PMID:33219048)
• RALYL increases hepatocellular carcinoma stemness by sustaining the mRNA stability of TGF-beta2. (PMID:33750796)
• RNA binding protein RALY activates the cholesterol synthesis pathway through an MTA1 splicing switch in hepatocellular carcinoma. (PMID:35490918)
• RALY regulate the proliferation and expression of immune/inflammatory response genes via alternative splicing of FOS. (PMID:35941292)
• The RNA binding protein RALY suppresses p53 activity and promotes lung tumorigenesis. (PMID:36952348)
• SUMOylation of RALY promotes vasculogenic mimicry in glioma cells via the FOXD1/DKK1 pathway. (PMID:37906341)
• RNA binding protein RALY facilitates colorectal cancer metastasis via enhancing exosome biogenesis in m6A dependent manner. (PMID:38880454)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	raly	ENSDARG00000059972
mus_musculus	Raly	ENSMUSG00000027593
rattus_norvegicus	Raly	ENSRNOG00000017405

Paralogs (6): HNRNPC (ENSG00000092199), HNRNPCL1 (ENSG00000179172), HNRNPCL4 (ENSG00000179412), RALYL (ENSG00000184672), HNRNPCL2 (ENSG00000275774), HNRNPCL3 (ENSG00000277058)

Protein

Protein identifiers

RNA-binding protein Raly — Q9UKM9 (reviewed: Q9UKM9)

Alternative names: Autoantigen p542, Heterogeneous nuclear ribonucleoprotein C-like 2, hnRNP associated with lethal yellow protein homolog

All UniProt accessions (5): Q9UKM9, Q5QPL9, Q5QPM0, Q5QPM1, Q5QPM2

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver. Binds the lipid-responsive non-coding RNA LeXis and is required for LeXis-mediated effect on cholesterogenesis. May be a heterogeneous nuclear ribonucleoprotein (hnRNP).

Subunit / interactions. Identified in the spliceosome C complex. Interacts (through its RNA-binding domain) with FUS (through its RNA-binding domain); both are components of the same RNPs.

Subcellular location. Nucleus.

Tissue specificity. Expressed in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. Weakly expressed in placenta.

Miscellaneous. Autoantigen found in infectious mononucleosis caused by Epstein-Barr virus. An epitope recognized by B-cells, which cross-react with the BKRF1 protein (EBNA-1 nuclear protein) of Epstein-Barr virus has been identified.

Similarity. Belongs to the RRM HNRPC family. RALY subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UKM9-1	2	yes
Q9UKM9-2	1

RefSeq proteins (2): NP_031393, NP_057951* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR017347	hnRNP_C	Family
IPR034502	RALY_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR051186	RRM_HNRPC/RALY_subfam	Family

Pfam: PF00076

UniProt features (43 total): modified residue 13, cross-link 7, strand 5, sequence variant 3, helix 3, compositionally biased region 3, region of interest 2, sequence conflict 2, initiator methionine 1, chain 1, domain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1WF1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKM9-F1	70.17	0.32

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 (20): 44, 63, 106, 135, 165, 262, 264, 286, 288, 295, 298, 4, 94, 99, 159, 165, 179, 191, 106, 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 171 (showing top): RNGTGGGC_UNKNOWN, GOBP_STEROL_HOMEOSTASIS, ENK_UV_RESPONSE_KERATINOCYTE_UP, CMYB_01, MORF_UBE2I, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, MEF2_02, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, GOBP_LIPID_HOMEOSTASIS, MORF_SKP1A, BLALOCK_ALZHEIMERS_DISEASE_UP, WTGAAAT_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, ZIC1_01, GOBP_RNA_SPLICING

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), mRNA splicing, via spliceosome (GO:0000398), cholesterol homeostasis (GO:0042632), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (4): transcription coregulator activity (GO:0003712), RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), catalytic step 2 spliceosome (GO:0071013), spliceosomal complex (GO:0005681), ribonucleoprotein complex (GO:1990904)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
sterol homeostasis	1
mRNA metabolic process	1
transcription regulator activity	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
Prp19 complex	1
spliceosomal complex	1
U5 snRNP	1
catalytic complex	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
protein-containing complex	1

Protein interactions and networks

STRING

2889 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RALY	EIF2S2	P20042	933
RALY	ASIP	P42127	801
RALY	MC1R	Q01726	726
RALY	MATR3	P43243	642
RALY	HNRNPA1	P09651	637
RALY	HNRNPM	P52272	620
RALY	AHCY	P23526	618
RALY	DND1	Q8IYX4	608
RALY	TMPO	P08918	590
RALY	HNRNPK	P61978	583
RALY	HNRNPA2B1	P22626	574
RALY	HNRNPU	Q00839	574
RALY	ELAVL1	Q15717	564
RALY	DEF8	Q6ZN54	554
RALY	HNRNPAB	Q99729	551

IntAct

259 interactions, top by confidence:

A	B	Type	Score
MAPK14	OBSL1	psi-mi:“MI:0914”(association)	0.790
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
RALY	HNRNPC	psi-mi:“MI:0915”(physical association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
RALY	FUS	psi-mi:“MI:2364”(proximity)	0.640
RALY	FUS	psi-mi:“MI:0915”(physical association)	0.640
RALY	FUS	psi-mi:“MI:0403”(colocalization)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
REPIN1	IPO8	psi-mi:“MI:0914”(association)	0.640
RALY	HNRNPCL2	psi-mi:“MI:0915”(physical association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
FOXP3	FOXP2	psi-mi:“MI:0914”(association)	0.530
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ZC3H18	AQR	psi-mi:“MI:0914”(association)	0.530
RALYL	CDC40	psi-mi:“MI:0914”(association)	0.530
SNRPC	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
ILF2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
GSPT2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
CACNA1C	RALY	psi-mi:“MI:0915”(physical association)	0.500
RIMS1	RALY	psi-mi:“MI:0915”(physical association)	0.500
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (503): RALY (Affinity Capture-RNA), RALY (Affinity Capture-RNA), RALY (Affinity Capture-RNA), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS), RALY (Affinity Capture-MS)

ESM2 similar proteins: B2RXH8, B7ZW38, C0SUW7, F4JP52, F4JQZ3, F4JTI1, F4KIA8, G3V9R8, O48802, O60812, O77768, P07910, P0DMR1, P19600, P93831, Q08BJ2, Q08DJ0, Q0VFL3, Q0VFL7, Q0WNR6, Q0WUR5, Q10MI4, Q149C2, Q3ED78, Q41583, Q5DU00, Q5RA82, Q5VN06, Q5XIN3, Q64012, Q6K641, Q84PB3, Q84UI6, Q86SE5, Q86XZ4, Q8BTF8, Q8K1N4, Q8RWQ4, Q8S4P4, Q8S4P6

Diamond homologs: B2RXH8, B7ZW38, G3V9R8, O60812, O77768, P07910, P0DMR1, P19600, Q08DJ0, Q0VFL7, Q5RA82, Q64012, Q86SE5, Q8BTF8, Q9UKM9, Q9V3V0, Q9Z204, Q16629, Q3T106, Q8BL97, Q9W4D2, A0A0D1C8Z4, A0A0D1DZT6, A2RVS6, A2WY46, A5A6M3, D4AE41, F4JHI7, G3V6S8, O22315, O22703, O35326, O75526, O81127, O93235, P26686, P38159, P38996, P60824, P60825

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RALY	“up-regulates quantity”	PRMT1	“post transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 211 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA Polyadenylation	15	10.0×	6e-09
Processing of Capped Intron-Containing Pre-mRNA	16	10.0×	2e-09
mRNA 3’-end processing	6	8.9×	4e-03
PKR-mediated signaling	8	8.5×	4e-04
mRNA Splicing	10	8.3×	4e-05
RHOQ GTPase cycle	6	8.2×	6e-03
mRNA Splicing - Major Pathway	19	7.9×	2e-09
Cellular Senescence	7	7.3×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription by RNA polymerase III	5	25.7×	3e-04
regulation of mRNA processing	5	24.4×	3e-04
centriole replication	5	20.1×	8e-04
spliceosomal complex assembly	5	16.5×	2e-03
mRNA splicing, via spliceosome	16	8.1×	2e-07
RNA splicing	14	6.8×	1e-05
anatomical structure morphogenesis	8	6.1×	8e-03
mRNA processing	14	6.1×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3535 predictions. Top by Δscore:

Variant	Effect	Δscore
20:34065161:G:GG	donor_gain	1.0000
20:34072202:C:CG	donor_gain	1.0000
20:34072240:GGC:G	donor_gain	1.0000
20:34072328:TGGGT:T	donor_loss	1.0000
20:34072329:GG:G	donor_gain	1.0000
20:34072330:GG:G	donor_gain	1.0000
20:34072330:GGTAA:G	donor_loss	1.0000
20:34072331:G:GG	donor_gain	1.0000
20:34072331:GTAA:G	donor_loss	1.0000
20:34072332:T:G	donor_loss	1.0000
20:34073817:AGT:A	acceptor_gain	1.0000
20:34073818:GTG:G	acceptor_gain	1.0000
20:34073867:G:A	donor_loss	1.0000
20:34076039:GT:G	donor_gain	1.0000
20:34076041:G:GG	donor_gain	1.0000
20:34076694:A:AG	acceptor_gain	1.0000
20:34076695:C:G	acceptor_gain	1.0000
20:34076698:CCA:C	acceptor_loss	1.0000
20:34076700:A:AG	acceptor_gain	1.0000
20:34076701:G:A	acceptor_loss	1.0000
20:34076701:G:GG	acceptor_gain	1.0000
20:34076701:GT:G	acceptor_gain	1.0000
20:34076701:GTA:G	acceptor_gain	1.0000
20:34076701:GTAA:G	acceptor_gain	1.0000
20:34076701:GTAAA:G	acceptor_gain	1.0000
20:34076812:CCAG:C	donor_loss	1.0000
20:34076813:CAG:C	donor_loss	1.0000
20:34076814:AGGTC:A	donor_loss	1.0000
20:34076815:GG:G	donor_loss	1.0000
20:34076816:G:C	donor_loss	1.0000

AlphaMissense

1972 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:34072142:T:A	V23D	1.000
20:34072144:T:A	F24I	1.000
20:34072144:T:C	F24L	1.000
20:34072145:T:C	F24S	1.000
20:34072145:T:G	F24C	1.000
20:34072146:C:A	F24L	1.000
20:34072146:C:G	F24L	1.000
20:34072148:T:A	I25N	1.000
20:34072151:G:A	G26E	1.000
20:34072157:T:A	L28H	1.000
20:34072157:T:C	L28P	1.000
20:34072198:T:C	F42L	1.000
20:34072199:T:C	F42S	1.000
20:34072200:C:A	F42L	1.000
20:34072200:C:G	F42L	1.000
20:34072211:G:T	G46V	1.000
20:34072234:C:G	H54D	1.000
20:34072247:C:A	A58D	1.000
20:34072249:T:C	F59L	1.000
20:34072250:T:C	F59S	1.000
20:34072250:T:G	F59C	1.000
20:34072251:T:A	F59L	1.000
20:34072251:T:G	F59L	1.000
20:34072253:T:A	V60D	1.000
20:34072258:T:G	Y62D	1.000
20:34072259:A:C	Y62S	1.000
20:34072277:C:A	A68D	1.000
20:34072286:C:A	A71D	1.000
20:34076738:T:C	L194P	1.000
20:34072106:C:T	T11I	0.999

dbSNP variants (sampled 300 via entrez): RS1000008406 (20:33994227 A>G), RS1000029934 (20:34046706 T>C), RS1000063431 (20:34063153 C>T), RS1000071032 (20:34071468 G>A), RS1000124309 (20:34072490 T>C), RS1000127407 (20:34021673 A>G), RS1000169005 (20:34059056 G>A), RS1000196275 (20:34010404 T>G), RS1000213595 (20:34028683 GAC>G), RS1000331448 (20:34065645 C>G,T), RS1000351688 (20:34022182 G>A), RS1000356917 (20:34024298 G>A), RS1000431234 (20:34018509 A>G), RS1000457803 (20:34070838 T>C), RS1000458360 (20:34077921 G>C)

Disease associations

OMIM: gene MIM:614663 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST001683_3	Breast cancer	1.000000e-08
GCST002785_4	Facial pigmentation	3.000000e-09
GCST002906_7	Skin colour saturation	5.000000e-13
GCST002908_1	Skin sensitivity to sun	1.000000e-07
GCST003327_6	Squamous cell carcinoma	9.000000e-21
GCST003587_17	Cancer	2.000000e-08
GCST003588_25	Cancer (pleiotropy)	6.000000e-06
GCST003726_6	Basal cell carcinoma	3.000000e-26
GCST004142_22	Melanoma	5.000000e-23
GCST004785_56	Vitiligo	1.000000e-19
GCST005588_39	Idiopathic dilated cardiomyopathy	7.000000e-06
GCST005896_10	Non-melanoma skin cancer	8.000000e-17
GCST005897_45	Low tan response	1.000000e-315
GCST006075_23	Hair color	1.000000e-100
GCST006291_76	Spherical equivalent or myopia (age of diagnosis)	5.000000e-10
GCST006986_16	Red vs. brown/black hair color	2.000000e-308
GCST006988_170	Blond vs. brown/black hair color	8.000000e-149
GCST008152_101	Weight	4.000000e-06
GCST008747_183	Estimated glomerular filtration rate	8.000000e-08
GCST008870_59	Keratinocyte cancer (MTAG)	5.000000e-78
GCST008871_53	Basal cell carcinoma	3.000000e-70
GCST009379_293	Type 2 diabetes	2.000000e-10
GCST010002_65	Refractive error	5.000000e-19
GCST010148_23	Cutaneous squamous cell carcinoma	8.000000e-40
GCST010242_269	HDL cholesterol levels	2.000000e-09
GCST010303_4	Nevus count or cutaneous melanoma	5.000000e-62
GCST010304_44	Cutaneous malignant melanoma	5.000000e-98
GCST010988_323	Adult body size	3.000000e-09
GCST011011_8	Youthful appearance (self-reported)	3.000000e-14
GCST012227_1374	Hip circumference adjusted for BMI	2.000000e-10

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:1001515	ovarian endometrioid carcinoma
EFO:1001516	ovarian serous carcinoma
EFO:0009094	idiopathic dilated cardiomyopathy
EFO:0009260	non-melanoma skin carcinoma
EFO:0004279	suntan
EFO:0004847	age at onset
EFO:0003924	hair color
EFO:0004338	body weight
EFO:0010176	keratinocyte carcinoma
EFO:1001927	cutaneous squamous cell carcinoma
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004632	nevus count
EFO:0008039	BMI-adjusted hip circumference
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
sodium arsenite	affects cotreatment, decreases expression, increases expression	2
Particulate Matter	affects cotreatment, increases abundance, increases expression, decreases expression	2
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
benzo(e)pyrene	increases methylation	1
nickel sulfate	increases expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	increases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Doxorubicin	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.