CSDC2

Summary

CSDC2 (cold shock domain containing C2, HGNC:30359) is a protein-coding gene on chromosome 22q13.2, encoding Cold shock domain-containing protein C2 (Q9Y534). RNA-binding factor which binds specifically to the very 3’-UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation signal.

Predicted to enable mRNA 3’-UTR binding activity. Predicted to be involved in regulation of mRNA stability. Predicted to be located in nucleus. Predicted to be active in cytoplasm.

Source: NCBI Gene 27254 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 24 total
• GTEx eGene: eQTL in 36 tissues, sQTL in 25 (q < 0.05)
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 1.12 (unconstrained)
• MANE Select transcript: NM_014460

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30359
Approved symbol	CSDC2
Name	cold shock domain containing C2
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	PIPPin
Ensembl gene	ENSG00000172346
Ensembl biotype	protein_coding
OMIM	617689
Entrez	27254

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 15 protein_coding, 6 nonsense_mediated_decay

MANE Select: ENST00000306149

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

ENST00000306149, ENST00000460790, ENST00000901850, ENST00000901851, ENST00000901852, ENST00000901853, ENST00000949647, ENST00000949648, ENST00000949649, ENST00000949650, ENST00000949651, ENST00001008369, ENST00001008370, ENST00001008371, ENST00001042580, ENST00001042582, ENST00001079307, ENST00001122230, ENST00001122231, ENST00001122232, ENST00001135557

RefSeq mRNA: 1 — MANE Select: NM_014460 NM_014460

CCDS: CCDS14019

Canonical transcript exons

ENST00000306149 — 4 exons

Exon	Start	End
ENSE00003993421	41574733	41576666
ENSE00003993422	41573655	41573777
ENSE00003993423	41561010	41561183
ENSE00003993426	41571843	41572141

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 98.79.

FANTOM5 (CAGE): breadth broad, TPM avg 6.6677 / max 385.3783, expressed in 821 samples.

Highest expression (Bgee): apex of heart, atrium auricular region, heart left ventricle, cardiac atrium, cardiac ventricle.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CSDC2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 36 tissues and its splicing (sQTL) in 25 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 61 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	sqtl	4.8e-37	-0.86	22:41565999:T:A
Brain Cortex	eqtl	8.9e-32	+0.93	22:41510321:C:T
Artery Aorta	sqtl	1.9e-23	-0.91	22:41565130:G:A
Brain Frontal Cortex BA9	eqtl	2.2e-23	+0.81	22:41510321:C:T
Heart Atrial Appendage	sqtl	3.8e-21	+0.75	22:41565827:T:C
Cells Cultured fibroblasts	eqtl	4.3e-17	-0.61	22:41537282:GTTA:G
Brain Putamen basal ganglia	eqtl	5.2e-17	-0.72	22:41737917:T:A
Stomach	eqtl	6.3e-16	-0.79	22:41503365:C:T
Brain Anterior cingulate cortex BA24	eqtl	2.3e-14	+0.64	22:41517840:A:G
Esophagus Mucosa	eqtl	1.3e-13	-0.57	22:41406434:T:C
Nerve Tibial	eqtl	9.2e-13	-0.50	22:41631408:C:T
Adrenal Gland	sqtl	1.6e-12	+0.80	22:41569233:A:T
Brain Caudate basal ganglia	eqtl	2.7e-11	+0.38	22:41554478:G:C
Lung	eqtl	4.1e-11	-0.53	22:41503365:C:T
Brain Nucleus accumbens basal ganglia	eqtl	1.3e-10	+0.40	22:41526182:GCTGC:G
Esophagus Muscularis	eqtl	4.5e-10	-0.64	22:41503365:C:T
Adipose Subcutaneous	eqtl	8.8e-10	-0.21	22:41417882:C:T
Nerve Tibial	sqtl	1.3e-09	-0.55	22:41566789:T:C
Uterus	sqtl	2.6e-08	-0.86	22:41565185:T:C
Liver	eqtl	2.8e-08	-0.56	22:41801073:A:AAAAG

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
192486	3.4046	583
192484	2.8790	679
192485	0.1549	74
192482	0.1011	54
192483	0.0950	60
192487	0.0331	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.79	gold quality
right atrium auricular region	UBERON:0006631	98.35	gold quality
heart left ventricle	UBERON:0002084	98.14	gold quality
cardiac atrium	UBERON:0002081	98.10	gold quality
cardiac ventricle	UBERON:0002082	97.99	gold quality
right coronary artery	UBERON:0001625	97.80	gold quality
left adrenal gland cortex	UBERON:0035825	97.70	gold quality
right adrenal gland	UBERON:0001233	97.69	gold quality
left ovary	UBERON:0002119	97.56	gold quality
left adrenal gland	UBERON:0001234	97.55	gold quality
adrenal cortex	UBERON:0001235	97.47	gold quality
right adrenal gland cortex	UBERON:0035827	97.43	gold quality
right ovary	UBERON:0002118	97.34	gold quality
popliteal artery	UBERON:0002250	96.20	gold quality
tibial artery	UBERON:0007610	96.18	gold quality
heart	UBERON:0000948	96.07	gold quality
aorta	UBERON:0000947	95.60	gold quality
body of uterus	UBERON:0009853	95.58	gold quality
coronary artery	UBERON:0001621	95.42	gold quality
left coronary artery	UBERON:0001626	95.37	gold quality
cranial nerve II	UBERON:0000941	95.32	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.32	gold quality
descending thoracic aorta	UBERON:0002345	95.31	gold quality
endocervix	UBERON:0000458	95.27	gold quality
left ventricle myocardium	UBERON:0006566	95.14	gold quality
thoracic aorta	UBERON:0001515	94.98	gold quality
ascending aorta	UBERON:0001496	94.91	gold quality
cerebellar cortex	UBERON:0002129	94.60	gold quality
cerebellar hemisphere	UBERON:0002245	94.60	gold quality
cerebellum	UBERON:0002037	94.14	gold quality
adrenal gland	UBERON:0002369	94.07	gold quality
myocardium	UBERON:0002349	93.75	gold quality
ovary	UBERON:0000992	92.93	gold quality
cerebellar vermis	UBERON:0004720	92.16	gold quality
heart right ventricle	UBERON:0002080	91.47	gold quality
paraflocculus	UBERON:0005351	90.80	gold quality
hypothalamus	UBERON:0001898	90.26	gold quality
nucleus accumbens	UBERON:0001882	89.66	gold quality
ectocervix	UBERON:0012249	89.43	gold quality
blood vessel layer	UBERON:0004797	89.38	gold quality
body of pancreas	UBERON:0001150	89.33	gold quality
right testis	UBERON:0004534	89.20	gold quality
pons	UBERON:0000988	89.05	gold quality
substantia nigra	UBERON:0002038	88.64	gold quality
left uterine tube	UBERON:0001303	88.60	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.58	gold quality
left testis	UBERON:0004533	88.45	gold quality
midbrain	UBERON:0001891	88.32	gold quality
myometrium	UBERON:0001296	88.23	gold quality
caudate nucleus	UBERON:0001873	88.14	gold quality
adult mammalian kidney	UBERON:0000082	88.13	gold quality
cingulate cortex	UBERON:0003027	87.86	gold quality
anterior cingulate cortex	UBERON:0009835	87.81	gold quality
substantia nigra pars compacta	UBERON:0001965	87.76	gold quality
substantia nigra pars reticulata	UBERON:0001966	87.54	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	87.34	gold quality
testis	UBERON:0000473	86.94	gold quality
vena cava	UBERON:0004087	86.54	gold quality
putamen	UBERON:0001874	85.66	gold quality
ganglionic eminence	UBERON:0004023	85.58	gold quality
amygdala	UBERON:0001876	85.32	gold quality
brain	UBERON:0000955	84.98	gold quality
ventral tegmental area	UBERON:0002691	84.95	gold quality
right frontal lobe	UBERON:0002810	84.93	gold quality
central nervous system	UBERON:0001017	84.89	gold quality
pituitary gland	UBERON:0000007	84.80	gold quality
inferior olivary complex	UBERON:0002127	84.61	gold quality
dorsal plus ventral thalamus	UBERON:0001897	84.59	gold quality
medulla oblongata	UBERON:0001896	84.55	gold quality
Brodmann (1909) area 10	UBERON:0013541	84.47	gold quality
CA1 field of hippocampus	UBERON:0003881	84.44	silver quality
Ammon’s horn	UBERON:0001954	84.30	gold quality
superior vestibular nucleus	UBERON:0007227	84.04	gold quality
adenohypophysis	UBERON:0002196	83.81	gold quality
cortical plate	UBERON:0005343	83.81	gold quality
forebrain	UBERON:0001890	83.77	gold quality
uterine cervix	UBERON:0000002	83.69	gold quality
triceps brachii	UBERON:0001509	83.69	gold quality
telencephalon	UBERON:0001893	83.22	gold quality
prefrontal cortex	UBERON:0000451	83.08	gold quality
neocortex	UBERON:0001950	82.85	gold quality
ventricular zone	UBERON:0003053	82.80	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.59	gold quality
saphenous vein	UBERON:0007318	82.36	gold quality
spinal cord	UBERON:0002240	82.23	gold quality
cerebral cortex	UBERON:0000956	82.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	81.81	gold quality
frontal cortex	UBERON:0001870	81.63	gold quality
kidney	UBERON:0002113	81.55	gold quality
muscle layer of sigmoid colon	UBERON:0035805	81.30	gold quality
vagina	UBERON:0000996	81.23	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.20	gold quality
lower esophagus mucosa	UBERON:0035834	81.07	gold quality
metanephros cortex	UBERON:0010533	81.06	gold quality
temporal lobe	UBERON:0001871	80.99	gold quality
cortex of kidney	UBERON:0001225	80.85	gold quality
primary visual cortex	UBERON:0002436	80.84	gold quality
inferior vagus X ganglion	UBERON:0005363	80.77	gold quality
kidney epithelium	UBERON:0004819	80.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.55

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Olfactory bulb	tissue	159.8
Cerebellum	tissue	107.5	high
Frontal cortex	tissue	94.1
Locus coeruleus	tissue	77.5
Thalamus	tissue	73.3
Heart muscle	tissue	71.6	medium
Pons	tissue	71.4
Superior colliculi	tissue	69.7
Spinal cord	tissue	61.4
Hippocampus	tissue	59.0	medium
Caudate putamen	tissue	57.8
Ovary	tissue	56.7	high
Midbrain	tissue	55.4
Hypothalamus	tissue	53.1
Medulla oblongata	tissue	52.9
Substantia nigra	tissue	52.4
Adrenal gland	tissue	49.1	high
Cerebral cortex	tissue	44.2	medium
Insular cortex	tissue	44.2
Amygdala	tissue	42.7
Hippocampal formation	tissue	42.6
Prefrontal cortex	tissue	41.6
Periaqueductal gray	tissue	41.6
Motor cortex	tissue	40.7
Temporal cortex	tissue	40.0
Nucleus accumbens	tissue	39.2
Entorhinal cortex	tissue	39.0
Somatosensory cortex	tissue	38.0
Occipital cortex	tissue	36.9
Retrosplenial and cingulate cortex	tissue	36.0
Retrosplenial cortex	tissue	35.8
Septum	tissue	35.0
Postcentral gyrus	tissue	34.1
Pancreas	tissue	33.1	high
Ventral forebrain	tissue	31.2
Vagina	tissue	30.6	low
Pituitary gland	tissue	21.6
Putamen	tissue	21.6
Basal ganglia	tissue	20.7	medium
Endometrium 1	tissue	18.9	medium
Corpus callosum	tissue	13.3
Testis	tissue	13.2	medium
Cervix	tissue	11.7	medium
Kidney	tissue	11.7	high
Smooth muscle	tissue	10.1	low
Seminal vesicle	tissue	9.8	high
Choroid plexus	tissue	9.2
Retina	tissue	4.8
Prostate	tissue	4.2	high
Urinary bladder	tissue	3.6	high
Fallopian tube	tissue	2.9	high
Tongue	tissue	2.5
Lung	tissue	2.4	medium
Gallbladder	tissue	2.2	medium
Adipose tissue	tissue	2.1	medium
Esophagus	tissue	1.5	not detected
Appendix	tissue	1.5	high
Epididymis	tissue	1.3	high
Colon	tissue	1.0	high
Stomach 1	tissue	0.8	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Flocculonodular lobe (134.9), Vermis (119.7), Blood vessel (101.1), Cerebellar cortex (99.8), Posterior thalamic nucleus (97.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CSDC2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 85 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306

Functional genomics

gnomAD constraint: pLI 0.015, LOEUF 1.12, missense Z -0.388 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000306149 — one region, missense o/e 0.91.

Literature-anchored findings (GeneRIF, showing 1)

• Uterine suppression of CSDC2 through intrauterine-injected-specific small interfering RNA (siRNA) led to abnormal decidualization in early pregnancy, with more extended antimesometrial area and with poor M development if compared with control siRNA-injected animals. These results suggest that CSDC2 could be a regulator during decidua development. (PMID:30078185)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	csdc2a	ENSDARG00000041323
danio_rerio		ENSDARG00000100167
mus_musculus	Csdc2	ENSMUSG00000042109
rattus_norvegicus	Csdc2	ENSRNOG00000005332
drosophila_melanogaster	CG9705	FBGN0036661

Paralogs (1): CARHSP1 (ENSG00000153048)

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
POLR3H	protein-coding	171568
ACO2	protein-coding	50
PMM1	protein-coding	5372
PHF5A	protein-coding	84844
DESI1	protein-coding	27351
XRCC6	protein-coding	2547
SNU13	protein-coding	4809

Protein

Protein identifiers

Cold shock domain-containing protein C2 — Q9Y534 (reviewed: Q9Y534)

Alternative names: RNA-binding protein PIPPin

All UniProt accessions (2): Q9Y534, H7C4E7

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding factor which binds specifically to the very 3’-UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation signal. Might play a central role in the negative regulation of histone variant synthesis in the developing brain.

Subcellular location. Nucleus. Cytoplasm.

RefSeq proteins (1): NP_055275* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002059	CSD_DNA-bd	Domain
IPR011129	CSD	Domain
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR019844	CSD_CS	Conserved_site
IPR052069	Ca-reg_mRNA-binding_domain	Family

Pfam: PF00313

UniProt features (5 total): chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y534-F1	78.82	0.54

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol

Antibody reliability (HPA): IH uncertain · 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 (1)

Type	Positions
Phosphoserine	19

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: 91 (showing top): GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, JOHANSSON_BRAIN_CANCER_EARLY_VS_LATE_DN, SETLUR_PROSTATE_CANCER_TMPRSS2_ERG_FUSION_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, KIM_WT1_TARGETS_12HR_UP, MODULE_207, LEE_TARGETS_OF_PTCH1_AND_SUFU_DN, chr22q13

GO Biological Process (2): mRNA processing (GO:0006397), regulation of mRNA stability (GO:0043488)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

10 GO namespaces:

Category	Terms
binding	2
RNA processing	1
mRNA metabolic process	1
regulation of RNA stability	1
regulation of mRNA catabolic process	1
nucleic acid binding	1
mRNA binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 16 of 648 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CSDC2	RBKS	Q9H477	660
CSDC2	DICER1	Q9UPY3	585
CSDC2	CDH1	P12830	584
CSDC2	MGAT3	Q09327	550
CSDC2	FXYD5	Q96DB9	510
CSDC2	MGAM	O43451	499
CSDC2	SI	P14410	498
CSDC2	DDX28	Q9NUL7	487
CSDC2	MGAT5	Q09328	486
CSDC2	POLR3D	P05423	483
CSDC2	AKNAD1	Q5T1N1	465
CSDC2	PRSS53	Q2L4Q9	447
CSDC2	NECTIN1	Q15223	430
CSDC2	H1-0	P07305	395
CSDC2	AVP	P01185	388
CSDC2	ERVFRD-1	P60508	388

IntAct

Human interaction partners of CSDC2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

4 partners by confidence:

Partner	Interaction type	MIscore	Records
PPP2R1A	physical association	0.740	11
INCA1	physical association	0.560	3
MEOX2	physical association	0.560	3
PIK3R1	physical association	0.400	1

BioGRID (5 interactions; top human partners by supporting records): PPP2R1A (Two-hybrid; 2 records), INCA1 (Two-hybrid), MAPT (Proximity Label-MS), MEOX2 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for CSDC2: 24 ClinVar records (0 pathogenic / likely pathogenic); 6 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	1
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 30 predictions of 411):

Position(s)	Effect	Δscore	Sites
22:41574731–41574732	acceptor_loss	0.9900	6
22:41574727	acceptor_gain	0.9800
22:41561180	donor_gain	0.9700
22:41571994	donor_gain	0.9700
22:41573778–41573779	donor_loss	0.9700	6
22:41573782	donor_loss	0.9700
22:41572142–41572143	donor_loss	0.9600	5
22:41573782	donor_loss	0.9600	2
22:41572143	donor_loss	0.9500
22:41573653–41573654	acceptor_loss	0.9500	6

AlphaMissense

486 missense substitutions predicted likely pathogenic (of 973 scored), across 103 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
H97	8	0.999	1.000
D111	8	0.997	0.999
F95	8	0.995	1.000
H82	8	0.991	1.000
D100	8	0.989	1.000
F76	8	0.987	1.000
H143	8	0.985	0.999
D93	8	0.778	0.931
F84	7	0.999	1.000
R55	7	0.998	1.000
C73	7	0.998	1.000
W146	7	0.998	1.000
Q128	7	0.983	0.999
C118	7	0.979	0.998
S47	7	0.870	0.994
E104	7	0.845	0.960
G71	6	0.999	1.000
G81	6	0.999	1.000
G83	6	0.999	1.000
P122	6	0.997	0.999

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:617689 | disease phenotypes:

GWAS associations

6 associations:

Study	Trait	p-value
GCST010002_383	Refractive error	2e-27
GCST005232_27	Neuroticism	3e-18
GCST004946_30	Schizophrenia	1e-12
GCST008524_3	Bitter non-alcoholic beverage consumption	2e-10
GCST007328_14	Alcohol consumption (drinks per week)	5e-9
GCST010143_2	Meat-related diet	4e-8

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0010093	bitter non-alcoholic beverage consumption measurement
EFO:0008111	diet 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
Aflatoxin B1	increases methylation	2
aminomethylphosphonic acid (AMPA)	decreases expression	1
beauvericin	affects cotreatment, decreases expression	1
trimellitic anhydride	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression	1
coumarin	increases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
enniatins	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Bleomycin	decreases expression	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tamoxifen	affects cotreatment, decreases expression	1
Triclosan	increases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1
Raloxifene Hydrochloride	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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