NME5

Summary

NME5 (NME/NM23 family member 5, HGNC:7853) is a protein-coding gene on chromosome 5q31.2, encoding Nucleoside diphosphate kinase 5 (P56597). Functions as part of axonemal radial spoke complexes, which play an important part in the motility of sperm and cilia.

Enables 3’-5’ exonuclease activity. Involved in spermatid development. Predicted to be located in 9+2 motile cilium. Predicted to be part of radial spoke. Predicted to be active in cilium. Implicated in primary ciliary dyskinesia.

Source: NCBI Gene 8382 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 48, without situs inversus (Moderate, ClinGen)
• GWAS associations: 3
• Clinical variants (ClinVar): 36 total — 1 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 51
• MANE Select transcript: NM_003551

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7853
Approved symbol	NME5
Name	NME/NM23 family member 5
Location	5q31.2
Locus type	gene with protein product
Status	Approved
Aliases	nm23-H5, RSPH23
Ensembl gene	ENSG00000112981
Ensembl biotype	protein_coding
OMIM	603575
Entrez	8382

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000265191, ENST00000506657, ENST00000508252, ENST00000511353, ENST00000512954, ENST00000514481, ENST00000903711, ENST00000903712, ENST00000919367, ENST00000963995

RefSeq mRNA: 1 — MANE Select: NM_003551 NM_003551

CCDS: CCDS4197

Canonical transcript exons

ENST00000265191 — 6 exons

Exon	Start	End
ENSE00000764346	138129263	138129468
ENSE00001130235	138138652	138138785
ENSE00001195954	138115175	138115764
ENSE00001299528	138139371	138139428
ENSE00003509699	138118818	138118936
ENSE00003551981	138128479	138128579

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 99.08.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1118 / max 89.3148, expressed in 596 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63671	2.0898	596
63670	0.0118	3
63669	0.0103	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.08	gold quality
epithelium of bronchus	UBERON:0002031	98.40	gold quality
bronchus	UBERON:0002185	97.77	gold quality
right uterine tube	UBERON:0001302	97.50	gold quality
sperm	CL:0000019	97.33	gold quality
male germ cell	CL:0000015	96.15	gold quality
caput epididymis	UBERON:0004358	96.02	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.03	gold quality
left testis	UBERON:0004533	94.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.76	gold quality
adult organism	UBERON:0007023	94.74	gold quality
right testis	UBERON:0004534	94.71	gold quality
testis	UBERON:0000473	93.76	gold quality
corpus epididymis	UBERON:0004359	92.98	gold quality
nucleus accumbens	UBERON:0001882	91.19	gold quality
caudate nucleus	UBERON:0001873	91.06	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.91	gold quality
nasal cavity epithelium	UBERON:0005384	89.81	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.79	gold quality
adenohypophysis	UBERON:0002196	89.63	gold quality
cingulate cortex	UBERON:0003027	88.97	gold quality
anterior cingulate cortex	UBERON:0009835	88.95	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.72	gold quality
prefrontal cortex	UBERON:0000451	88.68	gold quality
putamen	UBERON:0001874	88.55	gold quality
right frontal lobe	UBERON:0002810	88.38	gold quality
pituitary gland	UBERON:0000007	88.36	gold quality
amygdala	UBERON:0001876	88.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.42	gold quality
hypothalamus	UBERON:0001898	87.18	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	62.74
E-GEOD-134144	yes	27.64
E-GEOD-130148	yes	10.85
E-ENAD-17	no	238.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

31 targeting NME5, 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-3924	100.00	72.09	2394
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-6739-3P	99.22	68.84	1843
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-371A-5P	99.08	66.51	1914
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-4464	98.95	67.73	820
HSA-MIR-4748	98.95	67.53	810
HSA-MIR-4686	98.77	66.87	964
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-624-3P	98.37	67.06	1067
HSA-MIR-550A-3P	98.37	69.61	632
HSA-MIR-3200-5P	97.34	65.97	826
HSA-MIR-6730-3P	97.03	67.54	889

Literature-anchored findings (GeneRIF, showing 3)

• found that Nm23-H5 and NDP kinases A and B are differently distributed in spermatids and mature spermatozoa and could therefore be involved at various levels of sperm differentiation and function (PMID:14499630)
• study characterized for the first time the human NME5 promoter which is controlled by Sp1 transcription factor in pancreatic cancer (PMID:22564704)
• A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. (PMID:32185794)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nme5	ENSDARG00000041617
mus_musculus	Nme5	ENSMUSG00000035984
rattus_norvegicus	Nme5	ENSRNOG00000020118
drosophila_melanogaster	CG15547	FBGN0039809

Paralogs (8): NME8 (ENSG00000086288), NME3 (ENSG00000103024), NME4 (ENSG00000103202), NME7 (ENSG00000143156), NME6 (ENSG00000172113), NME9 (ENSG00000181322), NME1 (ENSG00000239672), NME2 (ENSG00000243678)

Protein

Protein identifiers

Nucleoside diphosphate kinase 5 — P56597 (reviewed: P56597)

Alternative names: Inhibitor of p53-induced apoptosis-beta, Putative 3’-5’-DNA exonuclease NDK5, Radial spoke head protein 23 homolog, Testis-specific nm23 homolog, nm23-H5

All UniProt accessions (2): A0A0S2Z4L9, P56597

UniProt curated annotations — full annotation on UniProt →

Function. Functions as part of axonemal radial spoke complexes, which play an important part in the motility of sperm and cilia. In vitro, does not display nucleoside diphosphate kinase (NDPK) activity. Exhibits a 3’-5’-DNA exonuclease activity that removes single nucleotides from the 3’ terminus of single-stranded DNA substrates and digests overhanging mismatched 3’ termini from double-stranded DNA substrates, possibly participating in DNA nucleolytic processing. Confers protection from cell death mediated by BAX and alters the cellular levels of several antioxidant enzymes, including GPX5. Might be involved in spermiogenesis by enhancing the ability of late-stage spermatids to eliminate reactive oxygen species.

Subunit / interactions. Component of the axonemal radial spoke complex 1 (RS1), at least composed of spoke head proteins RSPH1, RSPH3, RSPH9 and the cilia-specific component RSPH4A or sperm-specific component RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L and NME5, and the anchor protein IQUB. Interacts with IQUB.

Subcellular location. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Flagellum axoneme.

Tissue specificity. Specifically expressed in testis germinal cells.

Disease relevance. Ciliary dyskinesia, primary, 48, without situs inversus (CILD48) [MIM:620032] A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Does not possess all residues considered to be crucial for the NDPK activity.

Similarity. Belongs to the NDK family.

RefSeq proteins (1): NP_003542* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001564	Nucleoside_diP_kinase	Family
IPR007858	Dpy-30_motif	Conserved_site
IPR012410	NDK_H5	Family
IPR034907	NDK-like_dom	Domain
IPR036850	NDK-like_dom_sf	Homologous_superfamily

Pfam: PF00334, PF05186

UniProt features (3 total): chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56597-F1	89.94	0.80

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 258 (showing top): GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_DNA_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_APOPTOTIC_SIGNALING_PATHWAY

GO Biological Process (15): cilium movement (GO:0003341), epithelial cilium movement involved in extracellular fluid movement (GO:0003351), GTP biosynthetic process (GO:0006183), UTP biosynthetic process (GO:0006228), CTP biosynthetic process (GO:0006241), DNA catabolic process (GO:0006308), spermatogenesis (GO:0007283), spermatid development (GO:0007286), nucleoside metabolic process (GO:0009116), ventricular system development (GO:0021591), establishment of localization in cell (GO:0051649), cilium assembly (GO:0060271), negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176), cell differentiation (GO:0030154), spermatid differentiation (GO:0048515)

GO Molecular Function (4): 3’-5’-DNA exonuclease activity (GO:0008296), nucleoside diphosphate kinase activity (GO:0004550), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (9): radial spoke (GO:0001534), extracellular region (GO:0005576), cilium (GO:0005929), sperm flagellum (GO:0036126), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
pyrimidine ribonucleoside triphosphate biosynthetic process	2
pyrimidine ribonucleotide biosynthetic process	2
developmental process involved in reproduction	2
microtubule-based movement	1
cilium movement	1
extracellular transport	1
microtubule-based transport	1
purine ribonucleotide biosynthetic process	1
purine ribonucleoside triphosphate biosynthetic process	1
GTP metabolic process	1
UTP metabolic process	1
CTP metabolic process	1
DNA nuclease activity	1
DNA metabolic process	1
nucleic acid catabolic process	1
male gamete generation	1
germ cell development	1
spermatid differentiation	1
nucleobase-containing small molecule metabolic process	1
carbohydrate derivative metabolic process	1
brain development	1
system development	1
establishment of localization	1
cellular localization	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
intrinsic apoptotic signaling pathway in response to oxidative stress	1
regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	1
negative regulation of intrinsic apoptotic signaling pathway	1
cellular developmental process	1
spermatogenesis	1
cellular process involved in reproduction in multicellular organism	1
cell differentiation	1

Protein interactions and networks

STRING

5292 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NME5	RP2	O75695	621
NME5	FAM13B	Q9NYF5	487
NME5	DAW1	Q8N136	478
NME5	LACTBL1	A8MY62	462
NME5	ODAD4	Q96NG3	455
NME5	AK8	Q96MA6	444
NME5	TEKT3	Q9BXF9	435
NME5	PKD2L2	Q9NZM6	434
NME5	TEKT2	Q9UIF3	420
NME5	SPATA24	Q86W54	418
NME5	RASSF7	Q02833	412
NME5	AK5	Q9Y6K8	408
NME5	RSPH3	Q86UC2	403
NME5	STK17B	O94768	401
NME5	SMIM33	A0A1B0GW64	400

IntAct

31 interactions, top by confidence:

A	B	Type	Score
ASH2L	KMT2D	psi-mi:“MI:0914”(association)	0.890
NME5	DYDC1	psi-mi:“MI:0915”(physical association)	0.830
DYDC1	NME5	psi-mi:“MI:0915”(physical association)	0.830
DYDC2	NME5	psi-mi:“MI:0915”(physical association)	0.790
NME5	DYDC2	psi-mi:“MI:0915”(physical association)	0.790
NME5	JPH3	psi-mi:“MI:0915”(physical association)	0.560
HTT	NME5	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	NME5	psi-mi:“MI:0915”(physical association)	0.560
DYDC2	INPPL1	psi-mi:“MI:0914”(association)	0.560
RELA	NME5	psi-mi:“MI:0915”(physical association)	0.400
NME5	INPPL1	psi-mi:“MI:0914”(association)	0.350
NME5	BACC1	psi-mi:“MI:0914”(association)	0.350
NME5	RBBP5	psi-mi:“MI:0914”(association)	0.350
NME5	DYDC1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): DYDC1 (Two-hybrid), DYDC1 (Two-hybrid), DYDC2 (Two-hybrid), ZYX (Two-hybrid), CEP76 (Two-hybrid), DYDC1 (Two-hybrid), NME5 (Proximity Label-MS), NME5 (Proximity Label-MS), NME5 (Affinity Capture-MS), NME5 (Affinity Capture-MS), FABP3 (Affinity Capture-MS), BTN1A1 (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), CXXC1 (Affinity Capture-MS), C17orf49 (Affinity Capture-MS)

ESM2 similar proteins: A2ARP1, A2VD68, A7T167, A7Z050, B3DL53, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, O00746, O35552, O54820, O60361, O75414, O88425, O88426, P0C644, P34093, P56597, P78820, P87355, Q16875, Q1JQ92, Q29B63, Q5R9C1, Q66KP0, Q6DGQ8, Q6DI51, Q6NLG3, Q6PFW1, Q715S9, Q715T0, Q7JUX9, Q8N427, Q91YL3

Diamond homologs: A0A1L1SUL6, A1V4K4, A2S299, A3M207, A3MK78, A3NA57, A3NVX4, A4F9J8, A4G4J8, A4XY36, A5F3F7, A5IC43, A5UDJ8, A5UI22, A6Q200, A6SZX4, A6V0V6, A6VMK7, A7I3D2, A7MU38, A8ERJ2, A9HJV3, A9IK55, B0RT49, B0USF1, B0V4U1, B0VKS3, B2FNQ5, B2I3E1, B2SXT3, B3E3P0, B3PDL7, B4SSW2, B5FAW8, B7H073, B7I5G3, B7UWI4, B7VJT4, B8IZ74, B9MFX2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	26
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1705858	NM_003551.3(NME5):c.415del (p.Ile139fs)	Pathogenic
1705857	NM_003551.3(NME5):c.572G>A (p.Trp191Ter)	Likely pathogenic
4845815	NM_003551.3(NME5):c.414_417dup (p.Arg140fs)	Likely pathogenic

SpliceAI

1468 predictions. Top by Δscore:

Variant	Effect	Δscore
5:138116310:C:A	donor_gain	1.0000
5:138116527:T:TA	donor_gain	1.0000
5:138116309:T:TA	donor_gain	0.9900
5:138118937:C:CC	acceptor_gain	0.9900
5:138128580:C:CC	acceptor_gain	0.9900
5:138118934:TCA:T	acceptor_gain	0.9800
5:138118935:CAC:C	acceptor_gain	0.9800
5:138128576:CAGA:C	acceptor_gain	0.9800
5:138116532:ATG:A	donor_gain	0.9700
5:138129417:TTTCC:T	donor_gain	0.9700
5:138127198:T:TA	donor_gain	0.9600
5:138129414:A:AC	donor_gain	0.9600
5:138129415:C:CC	donor_gain	0.9600
5:138139366:CTCA:C	donor_loss	0.9600
5:138139367:TCA:T	donor_loss	0.9600
5:138139369:A:AC	donor_gain	0.9600
5:138139370:C:CC	donor_gain	0.9600
5:138118935:CA:C	acceptor_gain	0.9500
5:138127199:C:A	donor_gain	0.9500
5:138128580:C:A	acceptor_gain	0.9500
5:138116478:TCAAA:T	donor_gain	0.9400
5:138129416:TTTTC:T	donor_gain	0.9400
5:138129467:CT:C	acceptor_gain	0.9400
5:138138791:C:CT	acceptor_gain	0.9400
5:138139365:ACT:A	donor_loss	0.9400
5:138139370:CCT:C	donor_gain	0.9400
5:138116472:T:A	donor_gain	0.9300
5:138118933:ATCA:A	acceptor_gain	0.9300
5:138127172:TG:T	donor_gain	0.9300
5:138127707:A:T	acceptor_gain	0.9300

AlphaMissense

1404 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:138138665:A:G	F39S	0.992
5:138115745:A:G	L192P	0.990
5:138128486:A:C	F143L	0.989
5:138128486:A:T	F143L	0.989
5:138128488:A:G	F143L	0.989
5:138128528:A:C	S129R	0.989
5:138128528:A:T	S129R	0.989
5:138128530:T:G	S129R	0.989
5:138129321:A:G	W93R	0.988
5:138129321:A:T	W93R	0.988
5:138138731:G:T	A17D	0.988
5:138118855:A:G	L173P	0.986
5:138128572:C:G	A115P	0.986
5:138129345:C:G	A85P	0.985
5:138118846:A:G	L176P	0.984
5:138138664:G:C	F39L	0.984
5:138138664:G:T	F39L	0.984
5:138138666:A:G	F39L	0.984
5:138138721:T:A	K20N	0.984
5:138138721:T:G	K20N	0.984
5:138129373:A:C	S75R	0.983
5:138129373:A:T	S75R	0.983
5:138129375:T:G	S75R	0.983
5:138128512:C:G	A135P	0.982
5:138128562:C:T	G118D	0.982
5:138129305:C:T	G98E	0.981
5:138129306:C:G	G98R	0.981
5:138129306:C:T	G98R	0.981
5:138138732:C:G	A17P	0.981
5:138118867:A:G	L169P	0.980

dbSNP variants (sampled 300 via entrez): RS1000036649 (5:138138527 T>C), RS1000195052 (5:138117154 A>C), RS1000371711 (5:138116933 G>T), RS1000507801 (5:138130295 G>A), RS1000609778 (5:138119771 C>T), RS1000769243 (5:138129888 C>A,T), RS1000994748 (5:138124967 A>G), RS1001045401 (5:138125392 ATG>A), RS1001081496 (5:138137782 C>T), RS1001295816 (5:138132284 A>T), RS1001501831 (5:138126460 G>A), RS1001562319 (5:138125861 G>A), RS1001586728 (5:138116561 C>A,T), RS1001683049 (5:138129812 G>C), RS1001735854 (5:138122831 C>A)

Disease associations

OMIM: gene MIM:603575 | disease phenotypes: MIM:620032

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 48, without situs inversus	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 48, without situs inversus	Moderate	AR

Mondo (1): ciliary dyskinesia, primary, 48, without situs inversus (MONDO:0031054)

Orphanet (0):

HPO phenotypes

51 total (30 of 51 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections
HP:0006532	Recurrent pneumonia
HP:0006536	Airway obstruction

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004521_66	Autism spectrum disorder or schizophrenia	1.000000e-08
GCST005351_18	Carboplatin disposition in epthelial ovarian cancer	4.000000e-06
GCST006061_7	Atrial fibrillation	3.000000e-30

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	6
Air Pollutants	increases abundance, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Cadmium Chloride	decreases expression	2
methylmercuric chloride	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
titanium dioxide	decreases expression	1
mirdametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Carbamazepine	affects expression	1
Menthol	decreases expression	1
Nickel	decreases expression	1
Polychlorinated Biphenyls	affects expression	1
Smoke	increases abundance, increases expression	1
Cyclosporine	increases expression	1
Asbestos, Crocidolite	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A4WJ	MHHi019-A	Induced pluripotent stem cell	Female
CVCL_A4WK	MHHi019-B	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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