NXN

Summary

NXN (nucleoredoxin, HGNC:18008) is a protein-coding gene on chromosome 17p13.3, encoding Nucleoredoxin (Q6DKJ4). Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex.

This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation.

Source: NCBI Gene 64359 — RefSeq curated summary.

At a glance

• Gene–disease (curated): robinow syndrome, autosomal recessive 2 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 17
• Clinical variants (ClinVar): 276 total — 9 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 99
• MANE Select transcript: NM_022463

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18008
Approved symbol	NXN
Name	nucleoredoxin
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12614, NRX
Ensembl gene	ENSG00000167693
Ensembl biotype	protein_coding
OMIM	612895
Entrez	64359

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 4 protein_coding, 4 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000336868, ENST00000537628, ENST00000571080, ENST00000571281, ENST00000571338, ENST00000571684, ENST00000574018, ENST00000575171, ENST00000575455, ENST00000575801, ENST00000576991, ENST00000577098

RefSeq mRNA: 2 — MANE Select: NM_022463 NM_001205319, NM_022463

CCDS: CCDS10998, CCDS56013

Canonical transcript exons

ENST00000336868 — 8 exons

Exon	Start	End
ENSE00001299674	979319	979776
ENSE00001756058	805068	805247
ENSE00003466727	825961	826078
ENSE00003521301	823632	823765
ENSE00003581888	822357	822457
ENSE00003590465	803682	803806
ENSE00003620693	819439	819545
ENSE00003849807	799310	801131

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 98.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3445 / max 110.7630, expressed in 1402 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163648	17.8212	1397
163647	0.5234	361

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cervix squamous epithelium	UBERON:0006922	98.76	silver quality
hair follicle	UBERON:0002073	98.24	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.22	gold quality
vastus lateralis	UBERON:0001379	98.17	gold quality
quadriceps femoris	UBERON:0001377	98.01	gold quality
periodontal ligament	UBERON:0008266	97.97	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.85	gold quality
biceps brachii	UBERON:0001507	97.77	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.69	gold quality
palpebral conjunctiva	UBERON:0001812	97.58	gold quality
cervix epithelium	UBERON:0004801	97.45	gold quality
triceps brachii	UBERON:0001509	97.39	gold quality
decidua	UBERON:0002450	97.34	gold quality
penis	UBERON:0000989	97.29	gold quality
gluteal muscle	UBERON:0002000	97.25	gold quality
skeletal muscle tissue	UBERON:0001134	97.21	gold quality
parotid gland	UBERON:0001831	97.16	gold quality
oviduct epithelium	UBERON:0004804	97.16	gold quality
seminal vesicle	UBERON:0000998	96.76	gold quality
mammalian vulva	UBERON:0000997	96.71	gold quality
cauda epididymis	UBERON:0004360	96.64	gold quality
stromal cell of endometrium	CL:0002255	96.41	gold quality
tibialis anterior	UBERON:0001385	96.25	gold quality
amniotic fluid	UBERON:0000173	96.24	gold quality
saphenous vein	UBERON:0007318	96.23	gold quality
mucosa of urinary bladder	UBERON:0001259	96.22	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.18	gold quality
caput epididymis	UBERON:0004358	96.00	gold quality
deltoid	UBERON:0001476	95.99	gold quality
nipple	UBERON:0002030	95.97	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	17.95
E-ANND-3	yes	5.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting NXN, 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-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-12113	99.32	67.54	1072

Literature-anchored findings (GeneRIF, showing 5)

• Nucleoredoxin is a novel thioredoxin family member involved in cell growth and differentiation [review] (PMID:17567240)
• identified nucleoredoxin as an interaction partner of Sec63; characterized this interaction; Sec63 is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to polycystic liver disease (PMID:21251912)
• Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. (PMID:33048444)
• NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of Alzheimer’s Disease. (PMID:35406633)
• NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3. (PMID:35927236)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	nxn	ENSDARG00000033978
mus_musculus	Nxn	ENSMUSG00000020844
rattus_norvegicus	Nxn	ENSRNOG00000008178
caenorhabditis_elegans	F17B5.1	WBGENE00008905
caenorhabditis_elegans	T05F1.11	WBGENE00011495
caenorhabditis_elegans		WBGENE00016316
caenorhabditis_elegans		WBGENE00019349
caenorhabditis_elegans		WBGENE00020613
caenorhabditis_elegans		WBGENE00020875

Paralogs (2): NXNL2 (ENSG00000130045), NXNL1 (ENSG00000171773)

Protein

Protein identifiers

Nucleoredoxin — Q6DKJ4 (reviewed: Q6DKJ4)

All UniProt accessions (3): A0A0C4DGI2, Q6DKJ4, I3L4V6

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A).

Subunit / interactions. Associates with the phosphatase 2A holoenzyme. Interacts with PPP2CA; the interaction is direct. Interacts with DVL1 (via PDZ domain); the interaction is direct and regulated by oxidative stress.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Disease relevance. Robinow syndrome, autosomal recessive 2 (RRS2) [MIM:618529] A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the nucleoredoxin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6DKJ4-1	1	yes
Q6DKJ4-2	2
Q6DKJ4-3	3

RefSeq proteins (2): NP_001192248, NP_071908* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012336	Thioredoxin-like_fold	Domain
IPR013766	Thioredoxin_domain	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR041861	NRX_PDI_b'	Domain
IPR045870	TryX_NRX_thioredoxin_dom	Domain

Pfam: PF13848, PF13905

Catalyzed reactions (Rhea), 2 shown:

• [protein]-dithiol + NAD(+) = [protein]-disulfide + NADH + H(+) (RHEA:18749)
• [protein]-dithiol + NADP(+) = [protein]-disulfide + NADPH + H(+) (RHEA:18753)

UniProt features (15 total): splice variant 6, sequence conflict 3, sequence variant 2, initiator methionine 1, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6DKJ4-F1	90.37	0.69

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 418 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, MODULE_503, GTGCCTT_MIR506, CCANNAGRKGGC_UNKNOWN, ONKEN_UVEAL_MELANOMA_UP, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, MODULE_195, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, ROZANOV_MMP14_TARGETS_UP, GOBP_DETOXIFICATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (7): in utero embryonic development (GO:0001701), Wnt signaling pathway (GO:0016055), cell differentiation (GO:0030154), negative regulation of Wnt signaling pathway (GO:0030178), negative regulation of protein ubiquitination (GO:0031397), circulatory system development (GO:0072359), cellular oxidant detoxification (GO:0098869)

GO Molecular Function (3): thioredoxin-disulfide reductase (NADPH) activity (GO:0004791), oxidoreductase activity (GO:0016491), protein-disulfide reductase [NAD(P)H] activity (GO:0047134)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
chordate embryonic development	1
cell surface receptor signaling pathway	1
cellular developmental process	1
negative regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
protein ubiquitination	1
regulation of protein ubiquitination	1
negative regulation of protein modification by small protein conjugation or removal	1
system development	1
cellular detoxification	1
antioxidant activity	1
protein-disulfide reductase [NAD(P)H] activity	1
catalytic activity	1
protein-disulfide reductase activity	1
oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

837 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NXN	NLGN1	Q8N2Q7	949
NXN	DVL1	O14640	915
NXN	EPB41L5	Q9HCM4	853
NXN	NRXN1	Q9ULB1	836
NXN	TXN	P10599	830
NXN	CNTNAP1	P78357	808
NXN	LRRTM2	O43300	801
NXN	NRXN2	Q9P2S2	787
NXN	CRB3	Q9BUF7	760
NXN	CBLN1	P02682	745
NXN	NLGN2	Q8NFZ4	659
NXN	NLGN3	Q9NZ94	658
NXN	NLGN4Y	Q8NFZ3	649
NXN	CRB2	Q5IJ48	647
NXN	CLSTN3	Q9BQT9	644

IntAct

30 interactions, top by confidence:

A	B	Type	Score
DVL3	DVL2	psi-mi:“MI:0914”(association)	0.530
DVL2	WWP2	psi-mi:“MI:0914”(association)	0.530
NXN	DVL1	psi-mi:“MI:0915”(physical association)	0.400
NXN	SEC63	psi-mi:“MI:0915”(physical association)	0.370
CDH23	NHERF2	psi-mi:“MI:0914”(association)	0.350
NUDCD1	TUBAL3	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
GORASP1	CLASP2	psi-mi:“MI:0914”(association)	0.350
ARRDC1	KDM1A	psi-mi:“MI:0914”(association)	0.350
CGB2	CGB1	psi-mi:“MI:0914”(association)	0.350
USP3	EIF3F	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ANKEF1	NRDC	psi-mi:“MI:0914”(association)	0.350
CGB2	PMPCB	psi-mi:“MI:0914”(association)	0.350
ZBTB24	RPL13	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
VENTX	UBA6	psi-mi:“MI:0914”(association)	0.350
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
ZMYM3	TAF4	psi-mi:“MI:2364”(proximity)	0.270
	NXN	psi-mi:“MI:0915”(physical association)	0.000
ABI1	NXN	psi-mi:“MI:0915”(physical association)	0.000
WASF1	NXN	psi-mi:“MI:0915”(physical association)	0.000
CDH23	NXN	psi-mi:“MI:0915”(physical association)	0.000
NCKAP1	NXN	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (44): NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-MS), NXN (Affinity Capture-RNA), NXN (Affinity Capture-RNA)

ESM2 similar proteins: A5PK19, A6QLU8, D3Z6P0, D3ZAA9, P00435, P04041, P09102, P11352, P11909, P21195, P22352, P23764, P37141, P38660, P46412, P47823, P97346, Q08602, Q13087, Q13144, Q14168, Q148E0, Q15084, Q4AEH3, Q4AEH4, Q4AEH5, Q503L9, Q58E26, Q5CZL1, Q5R6T1, Q5RCH2, Q5RFG3, Q5RGJ5, Q5VZ03, Q63081, Q64350, Q6DKJ4, Q6GM16, Q6IQS6, Q8CHW4

Diamond homologs: A6QLU8, O77404, O80763, P97346, Q503L9, Q5VZ03, Q6DKJ4, Q6GM16, Q7Y0E8, Q7Y0F2, Q8VZQ0, Q9D531, A0RBT0, P80579, Q0JIL1, Q42403, Q63DQ8, Q6HL81, Q73B22, Q75GM1, Q7XPE8, Q81FU5, Q81SZ9, Q8CXF3, Q8VC33, Q93VQ9, Q96CM4, Q9KCJ4, O96952, P43221, Q65HX8, Q6NQN8, A5PMF7, Q68EV9, O31820

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 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
RHO GTPases Activate Formins	5	16.2×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	2
Uncertain significance	96
Likely benign	108
Benign	48

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
1448547	NC_000017.10:g.(?722659)(729338_?)del	Pathogenic
1462352	NM_022463.5(NXN):c.382C>T (p.Arg128Ter)	Pathogenic
2426760	NC_000017.10:g.(?722659)(722805_?)del	Pathogenic
2747957	NM_022463.5(NXN):c.1021_1024del (p.Ser341fs)	Pathogenic
3662860	NM_022463.5(NXN):c.494G>A (p.Trp165Ter)	Pathogenic
3728020	NM_022463.5(NXN):c.187del (p.Asp63fs)	Pathogenic
488062	NM_022463.5(NXN):c.1231GAG[1] (p.Glu412del)	Pathogenic
981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	Pathogenic
984983	NM_022463.5(NXN):c.817C>T (p.Gln273Ter)	Pathogenic
3243206	NC_000017.10:g.(?722659)(729338_?)dup	Likely pathogenic
488056	NM_022463.5(NXN):c.625C>T (p.Arg209Ter)	Likely pathogenic

SpliceAI

3520 predictions. Top by Δscore:

Variant	Effect	Δscore
17:801127:TCATC:T	acceptor_gain	1.0000
17:801128:CATC:C	acceptor_gain	1.0000
17:801128:CATCC:C	acceptor_gain	1.0000
17:801129:ATC:A	acceptor_gain	1.0000
17:801130:TC:T	acceptor_gain	1.0000
17:801131:CC:C	acceptor_gain	1.0000
17:801132:C:CC	acceptor_gain	1.0000
17:801139:C:CT	acceptor_gain	1.0000
17:801139:C:T	acceptor_gain	1.0000
17:801140:G:T	acceptor_gain	1.0000
17:801142:C:CT	acceptor_gain	1.0000
17:801143:A:T	acceptor_gain	1.0000
17:803677:CTCA:C	donor_loss	1.0000
17:803678:TCA:T	donor_loss	1.0000
17:803679:CACC:C	donor_loss	1.0000
17:803680:A:AT	donor_loss	1.0000
17:803680:ACCT:A	donor_gain	1.0000
17:803680:ACCTC:A	donor_gain	1.0000
17:803681:C:CG	donor_loss	1.0000
17:803681:CCTC:C	donor_gain	1.0000
17:803681:CCTCC:C	donor_gain	1.0000
17:803802:AGAAT:A	acceptor_gain	1.0000
17:803803:GAAT:G	acceptor_gain	1.0000
17:803804:AAT:A	acceptor_gain	1.0000
17:803805:AT:A	acceptor_gain	1.0000
17:803806:TCTG:T	acceptor_loss	1.0000
17:803807:C:A	acceptor_loss	1.0000
17:803807:C:CC	acceptor_gain	1.0000
17:803808:T:C	acceptor_loss	1.0000
17:803809:G:C	acceptor_gain	1.0000

AlphaMissense

2815 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:801094:A:G	L388P	1.000
17:805079:A:T	V330D	1.000
17:805241:G:T	P276H	1.000
17:819505:A:G	W252R	1.000
17:819505:A:T	W252R	1.000
17:822365:A:C	S235R	1.000
17:822365:A:T	S235R	1.000
17:822367:T:G	S235R	1.000
17:822447:C:T	C208Y	1.000
17:823632:C:A	W204C	1.000
17:823632:C:G	W204C	1.000
17:823634:A:G	W204R	1.000
17:823634:A:T	W204R	1.000
17:823644:G:C	F200L	1.000
17:823644:G:T	F200L	1.000
17:823646:A:G	F200L	1.000
17:801064:A:G	L398P	0.999
17:801067:A:T	I397N	0.999
17:801073:A:G	L395P	0.999
17:801073:A:T	L395H	0.999
17:801109:C:G	R383P	0.999
17:801112:A:G	L382P	0.999
17:803752:G:T	A352D	0.999
17:805073:A:G	F332S	0.999
17:805076:A:G	L331P	0.999
17:805082:A:G	L329P	0.999
17:805149:A:G	W307R	0.999
17:805149:A:T	W307R	0.999
17:805235:A:G	L278P	0.999
17:805241:G:C	P276R	0.999

dbSNP variants (sampled 300 via entrez): RS1000020315 (17:893823 C>A,T), RS1000049979 (17:976689 A>G), RS1000052554 (17:978689 C>A), RS1000052743 (17:894747 G>A), RS1000054489 (17:920204 C>A,T), RS1000055033 (17:947086 A>C), RS1000057542 (17:852759 C>T), RS1000061525 (17:830675 C>T), RS1000067892 (17:823447 T>C), RS1000078982 (17:823287 T>A), RS1000084999 (17:906586 T>G), RS1000088111 (17:971538 G>A,T), RS1000088141 (17:809089 G>A), RS1000089612 (17:873011 A>T), RS1000104219 (17:889176 A>C,G)

Disease associations

OMIM: gene MIM:612895 | disease phenotypes: MIM:618529

GenCC curated gene-disease

Disease	Classification	Inheritance
robinow syndrome, autosomal recessive 2	Strong	Autosomal recessive
autosomal recessive Robinow syndrome	Supportive	Autosomal recessive

Mondo (3): robinow syndrome, autosomal recessive 2 (MONDO:0032800), distal 17p13.3 microdeletion syndrome (MONDO:0016839), autosomal recessive Robinow syndrome (MONDO:0009999)

Orphanet (1): Distal 17p13.3 microdeletion syndrome (Orphanet:261257)

HPO phenotypes

99 total (30 of 99 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000164	Abnormality of the dentition
HP:0000174	Abnormal palate morphology
HP:0000185	Cleft soft palate
HP:0000202	Orofacial cleft
HP:0000207	Triangular mouth
HP:0000212	Gingival overgrowth
HP:0000256	Macrocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000389	Chronic otitis media
HP:0000431	Wide nasal bridge
HP:0000455	Broad nasal tip
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001519_3	Economic and political preferences	3.000000e-06
GCST001809_6	Type 2 diabetes	4.000000e-06
GCST001942_3	Prostate cancer	5.000000e-15
GCST002454_11	Colorectal cancer	3.000000e-08
GCST002497_17	Blood pressure	2.000000e-07
GCST002497_18	Blood pressure	6.000000e-07
GCST003494_1	Colorectal cancer	3.000000e-06
GCST005804_2	Taxane-induced peripheral neuropathy in breast cancer	5.000000e-06
GCST006979_645	Heel bone mineral density	2.000000e-19
GCST007820_2	Facial attractiveness (female raters)	6.000000e-07
GCST007856_32	Colorectal cancer or advanced adenoma	1.000000e-12
GCST007856_9	Colorectal cancer or advanced adenoma	2.000000e-11
GCST008161_64	Waist circumference adjusted for body mass index	6.000000e-06
GCST008477_22	Emphysema annual change measurement in smokers (adjusted lung density)	9.000000e-06
GCST90002400_195	Plateletcrit	2.000000e-12
GCST90002401_574	Platelet distribution width	2.000000e-11
GCST90002402_479	Platelet count	2.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004827	economic and social preference
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0009270	heel bone mineral density
EFO:0009892	facial attractiveness measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007626	emphysema imaging measurement
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535863	Robinow syndrome, autosomal recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases methylation, affects methylation, affects cotreatment	3
Benzo(a)pyrene	affects methylation, decreases expression	3
Tobacco Smoke Pollution	affects expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
2,4,6-tribromophenol	increases expression	1
decabromobiphenyl ether	increases expression	1
terbufos	increases methylation	1
trichostatin A	affects expression	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	affects methylation	1
polyhexamethyleneguanidine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
2,4-hexadienal	affects response to substance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
bisphenol S	affects methylation, affects cotreatment, decreases methylation	1
LDN 193189	increases expression, affects cotreatment	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, affects methylation, decreases methylation	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Cadmium	increases abundance, increases expression	1
Calcium Chloride	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dimethyl Sulfoxide	increases 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_TB53	HAP1 NXN (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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