NME7

Summary

NME7 (NME/NM23 family member 7, HGNC:20461) is a protein-coding gene on chromosome 1q24.2, encoding Nucleoside diphosphate kinase 7 (Q9Y5B8). Possesses an intrinsic kinase activity.

This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 29922 — RefSeq curated summary.

At a glance

• Gene–disease (curated): situs inversus (Supportive, GenCC)
• GWAS associations: 46
• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_013330

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20461
Approved symbol	NME7
Name	NME/NM23 family member 7
Location	1q24.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ37194, NM23-H7, CFAP67
Ensembl gene	ENSG00000143156
Ensembl biotype	protein_coding
OMIM	613465
Entrez	29922

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 9 protein_coding, 7 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000367811, ENST00000469474, ENST00000472647, ENST00000472984, ENST00000480478, ENST00000483228, ENST00000485609, ENST00000491225, ENST00000493481, ENST00000524967, ENST00000525440, ENST00000527460, ENST00000528517, ENST00000530739, ENST00000856221, ENST00000856222, ENST00000856223, ENST00000924912, ENST00000924913, ENST00000961401, ENST00000961402

RefSeq mRNA: 2 — MANE Select: NM_013330 NM_013330, NM_197972

CCDS: CCDS1277, CCDS44274

Canonical transcript exons

ENST00000367811 — 12 exons

Exon	Start	End
ENSE00001857932	169367708	169367797
ENSE00003476012	169132531	169132817
ENSE00003500477	169309970	169310080
ENSE00003524575	169303145	169303195
ENSE00003538894	169323117	169323283
ENSE00003542901	169235131	169235199
ENSE00003563327	169230718	169230819
ENSE00003626550	169298556	169298763
ENSE00003657082	169287303	169287408
ENSE00003667553	169237623	169237687
ENSE00003672434	169324393	169324500
ENSE00003677447	169169447	169169554

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 100.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.9721 / max 344.4867, expressed in 1778 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15831	18.3268	1769
15830	0.6240	345
15832	0.6148	365
15833	0.3072	138
15829	0.0994	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	100.00	gold quality
pons	UBERON:0000988	99.97	gold quality
superior vestibular nucleus	UBERON:0007227	99.91	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.85	gold quality
renal medulla	UBERON:0000362	99.82	gold quality
buccal mucosa cell	CL:0002336	99.70	gold quality
subthalamic nucleus	UBERON:0001906	99.68	gold quality
lateral globus pallidus	UBERON:0002476	99.67	gold quality
pharyngeal mucosa	UBERON:0000355	99.59	gold quality
adult organism	UBERON:0007023	99.54	gold quality
heart right ventricle	UBERON:0002080	99.52	gold quality
inferior vagus X ganglion	UBERON:0005363	99.50	gold quality
body of tongue	UBERON:0011876	99.47	gold quality
globus pallidus	UBERON:0001875	99.45	gold quality
middle temporal gyrus	UBERON:0002771	99.43	gold quality
parietal lobe	UBERON:0001872	99.39	gold quality
medial globus pallidus	UBERON:0002477	99.38	gold quality
entorhinal cortex	UBERON:0002728	99.37	gold quality
caput epididymis	UBERON:0004358	99.37	gold quality
postcentral gyrus	UBERON:0002581	99.34	gold quality
jejunal mucosa	UBERON:0000399	99.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.29	gold quality
biceps brachii	UBERON:0001507	99.20	gold quality
lower lobe of lung	UBERON:0008949	99.20	gold quality
ventral tegmental area	UBERON:0002691	99.14	gold quality
jejunum	UBERON:0002115	99.03	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.00	gold quality
epithelium of nasopharynx	UBERON:0001951	98.98	gold quality
dorsal root ganglion	UBERON:0000044	98.97	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

miRNA regulators (miRDB)

41 targeting NME7, 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-548AW	99.99	72.57	3559
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-6794-3P	98.76	66.99	894
HSA-MIR-3908	98.75	67.31	1160
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-4463	98.56	66.05	1071

Literature-anchored findings (GeneRIF, showing 4)

• Compared with wild-type betagamma nucleoside diphosphate kinase overexpression of Gbeta nucleoside diphosphate kinase suppressed basal cAMP formation up to 55%. (PMID:17363702)
• NME7 functions in the gamma-tubulin ring complex in a kinase-dependent manner to facilitate microtubule nucleation. (PMID:24807905)
• RNA-seq analysis shows vast differences between the parent FGF2 grown, primed state cells, and NME7AB converted cells, but similarities to altered gene expression patterns reported by others generating naive-like stem cells via the use of biochemical inhibitors (PMID:26749426)
• Study provides evidence that the deleterious mutation in NME7, which results in deletion of amino acids necessary for its interaction with Gamma-tubulin ring complex associated with impaired left-right asymmetry manifested by Situs Inversus Totalis. (PMID:27060491)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	nme7	ENSDARG00000056193
mus_musculus	Nme7	ENSMUSG00000026575
rattus_norvegicus	Nme7	ENSRNOG00000002898
drosophila_melanogaster	nmdyn-D7	FBGN0028997

Paralogs (8): NME8 (ENSG00000086288), NME3 (ENSG00000103024), NME4 (ENSG00000103202), NME5 (ENSG00000112981), NME6 (ENSG00000172113), NME9 (ENSG00000181322), NME1 (ENSG00000239672), NME2 (ENSG00000243678)

Protein

Protein identifiers

Nucleoside diphosphate kinase 7 — Q9Y5B8 (reviewed: Q9Y5B8)

Alternative names: Putative 3’-5’-DNA exonuclease NDK7, Serine protein kinase NME7, nm23-H7

All UniProt accessions (3): Q9Y5B8, B4DXC8, E9PNU1

UniProt curated annotations — full annotation on UniProt →

Function. Possesses an intrinsic kinase activity. Phosphorylates GSK3B at ‘Ser-9’, leading to the activation of Wnt/beta-catenin signaling. Additionally, 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. In vitro, does not seem to have nucleoside diphosphate kinase activity. Functional component of the gamma-tubulin ring complex, implicated in the regulation of its microtubule-nucleating activity in centrosomes, in a kinase activity-dependent manner. May maintain primary cilium assembly and ciliary microtubule stability. Part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, required for motile cilia beating.

Subunit / interactions. Component of sperm flagellar doublet microtubules. Component of the gamma-tubulin ring complex.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus. Spindle. Cilium axoneme. Flagellum axoneme. Cell projection. Cilium. Cilium basal body.

Tissue specificity. Expressed in airway epithelial cells.

Post-translational modifications. Undergoes autophosphorylation.

Domain organisation. Contains 2 putative kinase domains (94-224 and 239-372 AA), the first one is involved in autophosphorylation and the other may be inactive.

Similarity. Belongs to the NDK family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y5B8-1	1	yes
Q9Y5B8-2	2

RefSeq proteins (2): NP_037462, NP_932076 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001564	Nucleoside_diP_kinase	Family
IPR006602	DM10_dom	Domain
IPR011410	NDPK7	Family
IPR034907	NDK-like_dom	Domain
IPR035525	NDPk7A	Domain
IPR036850	NDK-like_dom_sf	Homologous_superfamily
IPR037993	NDPk7B	Domain
IPR057579	DM10_NDK7	Domain

Pfam: PF00334, PF25364

Catalyzed reactions (Rhea), 1 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)

UniProt features (9 total): mutagenesis site 6, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y5B8-F1	93.20	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (6):

Position	Phenotype
173	abolishes nme7 autophosphorylation.
206	decrease protein kinase activity.
206	abolishes nme7 autophosphorylation.
322	does not affect nme7 autophosphorylation. reduces interaction with the gamma-tubulin ring complex.
322	abolishes interaction with the gamma-tubulin ring complex.
355	does not affect nme7 autophosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-1640170	Cell Cycle
R-HSA-380287	Centrosome maturation
R-HSA-453274	Mitotic G2-G2/M phases
R-HSA-68877	Mitotic Prometaphase
R-HSA-68886	M Phase
R-HSA-69275	G2/M Transition
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 288 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_RESPONSE_TO_PEPTIDE, GOMF_NUCLEASE_ACTIVITY, GOZGIT_ESR1_TARGETS_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MICROTUBULE_NUCLEATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS

GO Biological Process (15): 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), smoothened signaling pathway (GO:0007224), determination of left/right symmetry (GO:0007368), brain development (GO:0007420), regulation of microtubule nucleation (GO:0010968), flagellated sperm motility (GO:0030317), intraciliary transport (GO:0042073), receptor clustering (GO:0043113), cilium assembly (GO:0060271), cellular response to leukemia inhibitory factor (GO:1990830), left/right pattern formation (GO:0060972)

GO Molecular Function (10): protein kinase activity (GO:0004672), ATP binding (GO:0005524), 3’-5’-DNA exonuclease activity (GO:0008296), nucleotide binding (GO:0000166), nucleoside diphosphate kinase activity (GO:0004550), protein binding (GO:0005515), 3’-5’ exonuclease activity (GO:0008408), kinase activity (GO:0016301), transferase activity (GO:0016740), hydrolase activity (GO:0016787)

GO Cellular Component (17): gamma-tubulin ring complex (GO:0000931), extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), axonemal microtubule (GO:0005879), plasma membrane (GO:0005886), cilium (GO:0005929), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoskeleton (GO:0005856), motile cilium (GO:0031514), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Cell Cycle, Mitotic	2
Centrosome maturation	1
Mitotic Prometaphase	1
G2/M Transition	1
M Phase	1
Mitotic G2-G2/M phases	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cilium	3
pyrimidine ribonucleoside triphosphate biosynthetic process	2
pyrimidine ribonucleotide biosynthetic process	2
cilium organization	2
catalytic activity	2
microtubule organizing center	2
intracellular membraneless organelle	2
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
cell surface receptor signaling pathway	1
determination of bilateral symmetry	1
left/right pattern formation	1
central nervous system development	1
animal organ development	1
head development	1
microtubule nucleation	1
regulation of microtubule polymerization	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
transport along microtubule	1
plasma membrane	1
protein localization to membrane	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	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

Protein interactions and networks

STRING

5387 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NME7	ATP1B1	P05026	832
NME7	KIF23	Q02241	760
NME7	MZT1	Q08AG7	735
NME7	MZT2A	Q6P582	712
NME7	TUBGCP4	Q9UGJ1	688
NME7	NEDD1	Q8NHV4	678
NME7	TUBGCP5	Q96RT8	661
NME7	TUBGCP6	Q96RT7	639
NME7	CDK5RAP2	Q96SN8	616
NME7	RP2	O75695	592
NME7	B8ZZ87	B8ZZ87	542
NME7	TMEM53	Q6P2H8	488
NME7	SCGN	O76038	470
NME7	CCDC181	Q5TID7	465
NME7	SMIM1	B2RUZ4	463

IntAct

393 interactions, top by confidence:

A	B	Type	Score
TCHP	NME7	psi-mi:“MI:0915”(physical association)	0.900
NME7	TCHP	psi-mi:“MI:0915”(physical association)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
NME7	CFAP141	psi-mi:“MI:0915”(physical association)	0.830
TNIP1	NME7	psi-mi:“MI:0915”(physical association)	0.830
CFAP141	NME7	psi-mi:“MI:0915”(physical association)	0.830
NME7	CEP72	psi-mi:“MI:0915”(physical association)	0.830
CEP72	NME7	psi-mi:“MI:0915”(physical association)	0.830
NME7	TNIP1	psi-mi:“MI:0915”(physical association)	0.830
FOSL1	NME7	psi-mi:“MI:0915”(physical association)	0.780
LNX1	NME7	psi-mi:“MI:0915”(physical association)	0.780
NME7	LNX1	psi-mi:“MI:0915”(physical association)	0.780
NME7	TUBG1	psi-mi:“MI:0914”(association)	0.730
NME7	CDC42EP2	psi-mi:“MI:0915”(physical association)	0.720
NME7	ZBTB48	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (231): NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), NME7 (Two-hybrid), CCHCR1 (Two-hybrid), CEP72 (Two-hybrid), KIAA1598 (Two-hybrid)

ESM2 similar proteins: A2X0Q3, A7YW45, A8XGH1, B0BNE2, E7F590, O14744, O81098, P19388, P20434, P45437, P50408, P56286, P91926, Q16864, Q28029, Q29N38, Q2T9S3, Q2T9T3, Q4R5M3, Q54EH2, Q5R587, Q5R698, Q5RBI3, Q5RGJ5, Q69YN2, Q6CJ62, Q6DDF4, Q6FQA6, Q6GL89, Q6PH52, Q6YXZ7, Q757H7, Q7ZTK4, Q7ZVK4, Q80UW8, Q8AVL0, Q8CIG8, Q8W207, Q921X6, Q9D1K2

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 108 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
Recruitment of mitotic centrosome proteins and complexes	17	37.9×	1e-20
Loss of Nlp from mitotic centrosomes	13	33.8×	3e-15
Loss of proteins required for interphase microtubule organization from the centrosome	13	33.8×	3e-15
Recruitment of NuMA to mitotic centrosomes	17	32.5×	1e-19
AURKA Activation by TPX2	13	32.5×	4e-15
Anchoring of the basal body to the plasma membrane	16	29.7×	6e-18
Regulation of PLK1 Activity at G2/M Transition	13	27.0×	4e-14
Centrosome maturation	6	25.0×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	6	47.3×	7e-07
microtubule nucleation	7	47.0×	7e-08
spindle assembly	6	28.6×	1e-05
cytoplasmic microtubule organization	6	22.2×	5e-05
non-motile cilium assembly	5	15.6×	2e-03
cilium assembly	10	7.9×	7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2970 predictions. Top by Δscore:

Variant	Effect	Δscore
1:169181218:AT:A	donor_gain	1.0000
1:169230716:A:AC	donor_gain	1.0000
1:169230717:C:CC	donor_gain	1.0000
1:169230827:A:C	acceptor_gain	1.0000
1:169235129:A:AC	donor_gain	1.0000
1:169235130:C:CC	donor_gain	1.0000
1:169235197:GAA:G	acceptor_gain	1.0000
1:169235200:C:CC	acceptor_gain	1.0000
1:169235205:T:TC	acceptor_gain	1.0000
1:169237622:CCAT:C	donor_gain	1.0000
1:169237683:CAGTC:C	acceptor_gain	1.0000
1:169237687:CCTG:C	acceptor_loss	1.0000
1:169237688:C:CC	acceptor_gain	1.0000
1:169237688:C:G	acceptor_loss	1.0000
1:169237689:T:C	acceptor_loss	1.0000
1:169298554:A:AC	donor_gain	1.0000
1:169298555:C:CC	donor_gain	1.0000
1:169298555:CT:C	donor_gain	1.0000
1:169298759:GCTCA:G	acceptor_gain	1.0000
1:169298760:CTCA:C	acceptor_gain	1.0000
1:169298760:CTCAC:C	acceptor_gain	1.0000
1:169298761:TCA:T	acceptor_gain	1.0000
1:169298761:TCACT:T	acceptor_gain	1.0000
1:169298762:CA:C	acceptor_gain	1.0000
1:169298762:CAC:C	acceptor_gain	1.0000
1:169298764:C:CC	acceptor_gain	1.0000
1:169298764:CT:C	acceptor_loss	1.0000
1:169303143:A:AC	donor_gain	1.0000
1:169303144:C:CC	donor_gain	1.0000
1:169309965:ATTAC:A	donor_loss	1.0000

AlphaMissense

2492 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:169169469:A:G	L359P	0.999
1:169169484:A:T	V354D	0.999
1:169298690:A:G	W172R	0.999
1:169298690:A:T	W172R	0.999
1:169323183:C:G	R71P	0.999
1:169169508:C:T	G346D	0.998
1:169230731:C:T	G326E	0.998
1:169323257:A:C	F46L	0.998
1:169323257:A:T	F46L	0.998
1:169323259:A:G	F46L	0.998
1:169324400:A:T	V35D	0.998
1:169324467:A:G	W13R	0.998
1:169324467:A:T	W13R	0.998
1:169169477:A:C	C356W	0.997
1:169169519:T:A	R342S	0.997
1:169169519:T:G	R342S	0.997
1:169169520:C:G	R342T	0.997
1:169323255:A:G	L47S	0.997
1:169324394:A:C	M37R	0.997
1:169324427:A:G	L26P	0.997
1:169169475:G:A	T357I	0.996
1:169169508:C:A	G346V	0.996
1:169169520:C:A	R342I	0.996
1:169169547:G:T	A333D	0.996
1:169230732:C:G	G326R	0.996
1:169230732:C:T	G326R	0.996
1:169230743:C:G	R322P	0.996
1:169310072:G:T	A96D	0.996
1:169324439:C:G	R22P	0.996
1:169324451:G:T	A18D	0.996

dbSNP variants (sampled 300 via entrez): RS1000000494 (1:169211286 G>C), RS1000003176 (1:169283591 T>A), RS1000005458 (1:169316195 A>G), RS1000010695 (1:169305094 C>T), RS1000014498 (1:169180052 T>C), RS1000034866 (1:169369264 A>G), RS1000041869 (1:169305384 G>A,C), RS1000050845 (1:169257965 A>G), RS1000066900 (1:169281183 G>T), RS1000090997 (1:169206052 A>G), RS1000095076 (1:169210916 T>C), RS1000098597 (1:169356797 T>A), RS1000106571 (1:169368915 A>G), RS1000128589 (1:169165596 T>C), RS1000162301 (1:169183427 G>A)

Disease associations

OMIM: gene MIM:613465 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
situs inversus	Supportive	Autosomal dominant

Mondo (1): situs inversus (MONDO:0010029)

Orphanet (0):

HPO phenotypes

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

GWAS associations

46 associations (top):

Study	Trait	p-value
GCST001049_9	D-dimer levels	2.000000e-06
GCST001253_1	Venous thromboembolism	2.000000e-26
GCST001557_3	Venous thromboembolism	2.000000e-12
GCST005194_102	Coronary artery disease	4.000000e-07
GCST005195_136	Coronary artery disease	3.000000e-12
GCST005196_190	Coronary artery disease	4.000000e-13
GCST007096_16	Pulse pressure	1.000000e-13
GCST007097_95	Pulse pressure	2.000000e-07
GCST007097_96	Pulse pressure	1.000000e-06
GCST007099_121	Systolic blood pressure	5.000000e-06
GCST007218_1	QT interval	6.000000e-16
GCST007267_276	Systolic blood pressure	2.000000e-11
GCST007269_18	Pulse pressure	4.000000e-17
GCST010796_1931	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_1932	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1933	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_1934	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_1935	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_1936	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_1937	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_1938	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-10
GCST010796_4130	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-17
GCST010796_4131	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-17
GCST010796_4132	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-16
GCST010796_4133	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-18
GCST010796_4134	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-19
GCST010796_4135	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-18
GCST010796_4136	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-22
GCST010796_4137	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-22
GCST010796_4138	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-23

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004507	D dimer measurement
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0004682	QT interval
EFO:0004327	electrocardiography
EFO:0009902	handedness

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D012857	Situs Inversus	C16.131.810

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	5
Valproic Acid	decreases methylation, increases expression, affects expression	5
Aflatoxin B1	increases methylation, affects expression, decreases expression, decreases methylation	4
Cisplatin	affects cotreatment, decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
bufotalin	decreases expression	1
bisphenol A	increases methylation	1
beta-lapachone	decreases expression	1
afimoxifene	decreases response to substance	1
sodium arsenite	increases expression	1
doxifluridine	decreases response to substance	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Estradiol	decreases expression, decreases reaction	1
Formaldehyde	increases expression	1
Piroxicam	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	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_D8RF	Ubigene HCT 116 NME7 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease