STAU2

Summary

STAU2 (staufen double-stranded RNA binding protein 2, HGNC:11371) is a protein-coding gene on chromosome 8q21.11, encoding Double-stranded RNA-binding protein Staufen homolog 2 (Q9NUL3). RNA-binding protein required for the microtubule-dependent transport of neuronal RNA from the cell body to the dendrite.

Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 27067 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_001164380

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11371
Approved symbol	STAU2
Name	staufen double-stranded RNA binding protein 2
Location	8q21.11
Locus type	gene with protein product
Status	Approved
Aliases	39K2
Ensembl gene	ENSG00000040341
Ensembl biotype	protein_coding
OMIM	605920
Entrez	27067

Gene structure

Transcript identifiers

Ensembl transcripts: 38 — 26 protein_coding, 10 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000355780, ENST00000517542, ENST00000518502, ENST00000518767, ENST00000518981, ENST00000519818, ENST00000519961, ENST00000520872, ENST00000520945, ENST00000521210, ENST00000521293, ENST00000521419, ENST00000521447, ENST00000521451, ENST00000521727, ENST00000521736, ENST00000521845, ENST00000522061, ENST00000522509, ENST00000522695, ENST00000522818, ENST00000522962, ENST00000523160, ENST00000523533, ENST00000523558, ENST00000524104, ENST00000524113, ENST00000524191, ENST00000524300, ENST00000868432, ENST00000868433, ENST00000868434, ENST00000868435, ENST00000868436, ENST00000946924, ENST00000946925, ENST00000946926, ENST00000946927

RefSeq mRNA: 7 — MANE Select: NM_001164380 NM_001164380, NM_001164381, NM_001164382, NM_001164383, NM_001164384, NM_001164385, NM_014393

CCDS: CCDS55244, CCDS55245, CCDS55246, CCDS55247, CCDS55248, CCDS6214

Canonical transcript exons

ENST00000524300 — 15 exons

Exon	Start	End
ENSE00000538402	73595166	73595297
ENSE00000697556	73603726	73603863
ENSE00000697557	73613744	73613956
ENSE00001152881	73582770	73582830
ENSE00001335834	73746783	73746840
ENSE00001387050	73552012	73552319
ENSE00002111341	73420369	73421465
ENSE00003459134	73615675	73615782
ENSE00003483076	73738284	73738349
ENSE00003530984	73739756	73739868
ENSE00003592065	73709032	73709162
ENSE00003662258	73673107	73673242
ENSE00003682966	73422614	73422702
ENSE00003687832	73617292	73617451
ENSE00003760202	73688654	73688813

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 97.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5021 / max 602.8518, expressed in 1786 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93607	21.5281	1780
93609	2.3050	794
93608	1.4383	902
93592	0.1169	66
93594	0.0943	34
93597	0.0121	3
93596	0.0074	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.40	gold quality
ganglionic eminence	UBERON:0004023	95.73	gold quality
prefrontal cortex	UBERON:0000451	95.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.86	gold quality
gastrocnemius	UBERON:0001388	94.68	gold quality
muscle of leg	UBERON:0001383	94.63	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.62	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.37	gold quality
right frontal lobe	UBERON:0002810	94.14	gold quality
ventricular zone	UBERON:0003053	94.12	gold quality
cingulate cortex	UBERON:0003027	93.57	gold quality
anterior cingulate cortex	UBERON:0009835	93.48	gold quality
adrenal tissue	UBERON:0018303	93.36	gold quality
colonic epithelium	UBERON:0000397	93.02	gold quality
right atrium auricular region	UBERON:0006631	92.97	gold quality
neocortex	UBERON:0001950	92.93	gold quality
endothelial cell	CL:0000115	92.89	gold quality
calcaneal tendon	UBERON:0003701	92.77	gold quality
frontal cortex	UBERON:0001870	92.72	gold quality
heart left ventricle	UBERON:0002084	92.53	gold quality
cardiac ventricle	UBERON:0002082	92.23	gold quality
primary visual cortex	UBERON:0002436	92.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.79	gold quality
cerebral cortex	UBERON:0000956	91.67	gold quality
gall bladder	UBERON:0002110	91.07	gold quality
heart	UBERON:0000948	91.04	gold quality
buccal mucosa cell	CL:0002336	91.02	gold quality
islet of Langerhans	UBERON:0000006	90.87	gold quality
telencephalon	UBERON:0001893	90.71	gold quality
amygdala	UBERON:0001876	90.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting STAU2, 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-188-3P	100.00	68.76	1240
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-5689	99.50	71.26	1154
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-6804-3P	98.72	64.82	852
HSA-MIR-4712-3P	98.52	65.39	822
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-4432	97.80	67.87	705
HSA-MIR-6865-3P	97.54	64.67	684

Literature-anchored findings (GeneRIF, showing 11)

• Data show that Stau2 is localized to the neuronal soma and dendrites, but it does not colocalize with Stau1-containing particles. (PMID:12140260)
• Stau1- and Stau2-mRNPs associate with distinct but overlapping sets of cellular mRNAs. (PMID:18094122)
• We suggest a role for Stau2 in the generation and regulation of Map1b mRNA containing granules that are required for mGluR-long-term depression (PMID:21508097)
• Staufen2 functions in Staufen1-mediated mRNA decay by binding to itself and its paralog and promoting UPF1 helicase but not ATPase activity. (PMID:23263869)
• Authors establish that human Staufen-2, a host factor which is up-regulated upon HIV-1 infection, interacts with HIV-1 Rev, thereby promoting its RNA export activity and progeny virus formation. (PMID:24520823)
• during genotoxic stress, Stau2 is downregulated at the promoter level in an ATR- and E2F1-dependent manner, leading to increased levels of DNA damage and apoptosis. (PMID:26843428)
• Quantitative STAU2 measurement in lymphocytes for breast cancer risk assessment. (PMID:33441653)
• STAU2 protein level is controlled by caspases and the CHK1 pathway and regulates cell cycle progression in the non-transformed hTERT-RPE1 cells. (PMID:33663378)
• Encapsidation of Staufen-2 Enhances Infectivity of HIV-1. (PMID:34960728)
• Exosome-Delivered circSTAU2 Inhibits the Progression of Gastric Cancer by Targeting the miR-589/CAPZA1 Axis. (PMID:36643863)
• RNF216 affects the stability of STAU2 in the hypothalamus. (PMID:37439148)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	stau2	ENSDARG00000026801
mus_musculus	Stau2	ENSMUSG00000025920
rattus_norvegicus	Stau2	ENSRNOG00000042458
drosophila_melanogaster	loqs	FBGN0032515
drosophila_melanogaster	CG12493	FBGN0035571
drosophila_melanogaster	blanks	FBGN0035608
drosophila_melanogaster	Zn72D	FBGN0263603
caenorhabditis_elegans	zfr-1	WBGENE00022388

Paralogs (14): ZFR (ENSG00000056097), ADAT1 (ENSG00000065457), ZFR2 (ENSG00000105278), STAU1 (ENSG00000124214), ILF3 (ENSG00000129351), TARBP2 (ENSG00000139546), ADAD2 (ENSG00000140955), ILF2 (ENSG00000143621), ADAR (ENSG00000160710), ADAD1 (ENSG00000164113), STRBP (ENSG00000165209), PRKRA (ENSG00000180228), ADARB2 (ENSG00000185736), ADARB1 (ENSG00000197381)

Protein

Protein identifiers

Double-stranded RNA-binding protein Staufen homolog 2 — Q9NUL3 (reviewed: Q9NUL3)

All UniProt accessions (10): E5RFK1, Q9NUL3, E5RGQ5, E5RGT3, E5RJ67, E5RJN7, E7EPX0, E7EVI1, E7EVJ4, H0YBY0

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein required for the microtubule-dependent transport of neuronal RNA from the cell body to the dendrite. As protein synthesis occurs within the dendrite, the localization of specific mRNAs to dendrites may be a prerequisite for neurite outgrowth and plasticity at sites distant from the cell body.

Subunit / interactions. Interacts with the exportin XPO5. This requires RNA and RAN bound to GTP. Interacts with microtubules. Isoform 2 and isoform 3 may also interact with ribosomes, and this association is independent of translation. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Interacts with TRIM71 (via NHL repeats) in an RNA-dependent manner.

Subcellular location. Cytoplasm. Nucleus. Nucleolus. Endoplasmic reticulum.

Domain organisation. The DRBM 3 domain appears to be the major RNA-binding determinant. This domain also mediates interaction with XPO5 and is required for XPO1/CRM1-independent nuclear export.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9NUL3-1	1, Long	yes
Q9NUL3-2	2, Short
Q9NUL3-3	3
Q9NUL3-4	4
Q9NUL3-5	5
Q9NUL3-6	6
Q9NUL3-7	7
Q9NUL3-8	8

RefSeq proteins (7): NP_001157852, NP_001157853, NP_001157854, NP_001157855, NP_001157856, NP_001157857, NP_055208 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014720	dsRBD_dom	Domain
IPR032478	Staufen_C	Domain
IPR044464	STAU2_DSRM_2	Domain
IPR044473	STAU2_DSRM_3	Domain
IPR044474	STAU2_DSRM_4	Domain
IPR051740	DRBM-containing_protein	Family

Pfam: PF00035, PF16482

UniProt features (36 total): splice variant 10, modified residue 8, region of interest 5, domain 4, compositionally biased region 3, short sequence motif 2, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NUL3-F1	70.34	0.34

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 (8): 188, 395, 405, 416, 426, 440, 455, 492

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 306 (showing top): GOBP_DENDRITE_DEVELOPMENT, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_DENDRITE_MORPHOGENESIS, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS

GO Biological Process (11): germ cell development (GO:0007281), intracellular mRNA localization (GO:0008298), regulation of actin cytoskeleton organization (GO:0032956), cellular response to oxidative stress (GO:0034599), protein localization to synapse (GO:0035418), eye morphogenesis (GO:0048592), regulation of filopodium assembly (GO:0051489), positive regulation of synapse assembly (GO:0051965), positive regulation of dendritic spine morphogenesis (GO:0061003), anterograde dendritic transport of messenger ribonucleoprotein complex (GO:0098964), positive regulation of long-term synaptic depression (GO:1900454)

GO Molecular Function (8): RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), mRNA binding (GO:0003729), kinesin binding (GO:0019894), Hsp70 protein binding (GO:0030544), ribosome binding (GO:0043022), mitogen-activated protein kinase binding (GO:0051019), protein binding (GO:0005515)

GO Cellular Component (18): nucleolus (GO:0005730), endoplasmic reticulum (GO:0005783), microtubule (GO:0005874), plasma membrane (GO:0005886), cytoplasmic stress granule (GO:0010494), membrane (GO:0016020), axon (GO:0030424), nuclear membrane (GO:0031965), dendrite cytoplasm (GO:0032839), protein-containing complex (GO:0032991), neuron projection (GO:0043005), neuronal cell body (GO:0043025), dendritic shaft (GO:0043198), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), nucleus (GO:0005634), cytoplasm (GO:0005737), dendrite (GO:0030425)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
RNA binding	2
intracellular membrane-bounded organelle	2
neuron projection	2
dendrite	2
synapse	2
developmental process involved in reproduction	1
gamete generation	1
cellular process involved in reproduction in multicellular organism	1
cell development	1
RNA localization	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
response to oxidative stress	1
cellular response to chemical stress	1
protein localization to cell junction	1
eye development	1
sensory organ morphogenesis	1
filopodium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
synapse assembly	1
positive regulation of nervous system development	1
regulation of synapse assembly	1
positive regulation of cell junction assembly	1
positive regulation of neuron projection development	1
positive regulation of dendrite morphogenesis	1
dendritic spine morphogenesis	1
positive regulation of dendritic spine development	1
regulation of dendritic spine morphogenesis	1
anterograde dendritic transport	1
positive regulation of biological process	1
long-term synaptic depression	1
regulation of long-term synaptic depression	1
nucleic acid binding	1
cytoskeletal protein binding	1
heat shock protein binding	1
protein-folding chaperone binding	1
ribonucleoprotein complex binding	1
protein kinase binding	1

Protein interactions and networks

STRING

1172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAU2	UPF1	Q92900	884
STAU2	EIF4A3	P38919	609
STAU2	AGO1	Q9UL18	581
STAU2	FXR2	P51116	574
STAU2	PABPC1	P11940	572
STAU2	FXR1	P51114	564
STAU2	AGO2	Q9UKV8	545
STAU2	PUM2	Q8TB72	474
STAU2	ACTB	P02570	466
STAU2	ZFR	Q96KR1	460
STAU2	STAU1	O95793	449
STAU2	CASC3	O15234	440
STAU2	FMR1	Q06787	434
STAU2	ELAVL1	Q15717	422
STAU2	UPF2	Q9HAU5	419

IntAct

222 interactions, top by confidence:

A	B	Type	Score
NS	PIK3R2	psi-mi:“MI:0914”(association)	0.750
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
RPL28	MAGEB2	psi-mi:“MI:0914”(association)	0.560
NS	STAU2	psi-mi:“MI:0915”(physical association)	0.550
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ZC3HAV1	KHNYN	psi-mi:“MI:0914”(association)	0.530
PPAN	PPM1G	psi-mi:“MI:0914”(association)	0.530
ILF2	RRP8	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ILF2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
GSPT2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
H1-1	SURF6	psi-mi:“MI:0914”(association)	0.530
STAU2	rep	psi-mi:“MI:0407”(direct interaction)	0.520
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
NS1	STAU2	psi-mi:“MI:0915”(physical association)	0.370
STAU2	NS	psi-mi:“MI:0915”(physical association)	0.370
STAU2	NS1	psi-mi:“MI:0915”(physical association)	0.370
NS	STAU2	psi-mi:“MI:0915”(physical association)	0.370
NS1	SAC3D1	psi-mi:“MI:0914”(association)	0.350

BioGRID (304): STAU2 (Affinity Capture-RNA), STAU2 (Affinity Capture-RNA), STAU2 (Affinity Capture-RNA), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS)

ESM2 similar proteins: B0V3F8, D2GVP7, E1BVR9, E9PYK3, O75569, O82387, O95793, P51400, P55265, P55266, P78563, P86049, Q08BH5, Q0P4R6, Q10HL3, Q175F8, Q2HJ92, Q32PY6, Q3EBC8, Q3U3W5, Q4R2Z0, Q4R3W5, Q4V8C7, Q5M7M7, Q5N870, Q5N8Z0, Q5T8I9, Q5W9E7, Q68SB1, Q6DCB7, Q6P2P2, Q7XD96, Q7ZW47, Q7ZYA5, Q8BGG7, Q8CAE2, Q8CJ67, Q8K4M9, Q8NHP6, Q8TBY0

Diamond homologs: A9WJ69, B2A2N1, B9LB70, D2GVP7, O75569, O95793, Q027L3, Q2HJ92, Q3L1C9, Q4SS66, Q4V8C7, Q5M7M7, Q68SB1, Q7SXR1, Q7ZW47, Q7ZYA5, Q8CJ67, Q8R9W3, Q91836, Q9NUL3, Q9WTX2, Q9Z108, A8AWC2, P25159, Q5BJ52, Q63184, Q6GPZ1, A2RLZ8, B0V3F8, Q0IIG6, Q15633, Q2NJY3, Q6YPW7, Q9CHD0, B8GAM6, O88532, P51400, P78563, P97616, Q08E27

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 207 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
Eukaryotic Translation Initiation	10	22.4×	3e-10
Cap-dependent Translation Initiation	10	22.4×	3e-10
SARS-CoV-1 modulates host translation machinery	10	22.4×	3e-10
SRP-dependent cotranslational protein targeting to membrane	30	21.8×	8e-30
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	25	21.3×	1e-24
Peptide chain elongation	23	21.1×	8e-23
Viral mRNA Translation	23	21.1×	8e-23
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	23	20.9×	9e-23

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	26	26.6×	2e-27
translation	27	15.3×	7e-22
mRNA stabilization	7	14.2×	6e-05
negative regulation of translation	13	14.1×	2e-09
ribosomal small subunit biogenesis	11	13.8×	8e-08
regulation of alternative mRNA splicing, via spliceosome	10	13.5×	6e-07
mRNA transport	9	13.1×	3e-06
ribosomal large subunit biogenesis	5	12.2×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4599 predictions. Top by Δscore:

Variant	Effect	Δscore
8:73422609:CTCA:C	donor_gain	1.0000
8:73422610:TCA:T	donor_loss	1.0000
8:73422611:CA:C	donor_loss	1.0000
8:73422612:A:AC	donor_gain	1.0000
8:73422612:A:T	donor_loss	1.0000
8:73422613:C:CA	donor_gain	1.0000
8:73422613:CTTTT:C	donor_gain	1.0000
8:73422699:CTGC:C	acceptor_gain	1.0000
8:73422700:TGC:T	acceptor_gain	1.0000
8:73422703:C:CC	acceptor_gain	1.0000
8:73422704:T:C	acceptor_loss	1.0000
8:73422709:A:AC	acceptor_gain	1.0000
8:73422709:A:C	acceptor_gain	1.0000
8:73496526:T:TA	donor_gain	1.0000
8:73552320:C:CC	acceptor_gain	1.0000
8:73595158:A:C	donor_gain	1.0000
8:73595159:CTCTT:C	donor_gain	1.0000
8:73595160:TCTTA:T	donor_gain	1.0000
8:73595161:CTTAC:C	donor_gain	1.0000
8:73595162:TTA:T	donor_gain	1.0000
8:73595163:TA:T	donor_gain	1.0000
8:73595164:A:AC	donor_gain	1.0000
8:73595164:A:AG	donor_loss	1.0000
8:73595164:A:C	donor_gain	1.0000
8:73595165:C:CC	donor_gain	1.0000
8:73595165:C:CT	donor_loss	1.0000
8:73595165:CCTT:C	donor_gain	1.0000
8:73595293:TTCAC:T	acceptor_gain	1.0000
8:73595294:TCAC:T	acceptor_gain	1.0000
8:73595295:CAC:C	acceptor_gain	1.0000

AlphaMissense

3741 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:73595218:A:G	L370P	1.000
8:73595218:A:T	L370Q	1.000
8:73595230:G:T	A366E	1.000
8:73595231:C:G	A366P	1.000
8:73595233:G:T	A365D	1.000
8:73595234:C:G	A365P	1.000
8:73595241:T:A	K362N	1.000
8:73595241:T:G	K362N	1.000
8:73595242:T:A	K362I	1.000
8:73595243:T:C	K362E	1.000
8:73595245:G:T	A361D	1.000
8:73595252:T:C	K359E	1.000
8:73595253:T:A	K358N	1.000
8:73595253:T:G	K358N	1.000
8:73595254:T:A	K358I	1.000
8:73595255:T:C	K358E	1.000
8:73595263:C:A	G355V	1.000
8:73595263:C:T	G355E	1.000
8:73595264:C:G	G355R	1.000
8:73595264:C:T	G355R	1.000
8:73595269:C:T	G353E	1.000
8:73595270:C:G	G353R	1.000
8:73595270:C:T	G353R	1.000
8:73603735:A:C	F340L	1.000
8:73603735:A:T	F340L	1.000
8:73603736:A:C	F340C	1.000
8:73603736:A:G	F340S	1.000
8:73603737:A:G	F340L	1.000
8:73603779:A:G	Y326H	1.000
8:73603784:G:C	P324R	1.000

dbSNP variants (sampled 300 via entrez): RS1000003938 (8:73673358 A>G), RS1000006349 (8:73620480 C>T), RS1000022214 (8:73582623 G>A), RS1000028659 (8:73729915 T>C), RS1000048025 (8:73462102 A>G), RS1000059742 (8:73729566 G>A,T), RS1000069910 (8:73640754 T>C), RS1000093364 (8:73615995 G>A), RS1000103367 (8:73725006 A>G), RS1000110680 (8:73485027 C>A), RS1000130757 (8:73696218 T>C), RS1000135442 (8:73549396 G>A), RS1000139820 (8:73680594 G>A), RS1000140793 (8:73567607 G>A,C), RS1000161667 (8:73509996 T>C)

Disease associations

OMIM: gene MIM:605920 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002115_12	Axial length	9.000000e-06
GCST002828_17	Urate levels in obese individuals	8.000000e-06
GCST003225_28	Pelvic organ prolapse (moderate/severe)	8.000000e-07
GCST007511_16	Alzheimer’s disease (late onset)	3.000000e-06
GCST010002_304	Refractive error	8.000000e-12
GCST010725_15	Malaria	2.000000e-07
GCST010725_27	Malaria	4.000000e-07
GCST010725_69	Malaria	6.000000e-06
GCST90020024_178	A body shape index	2.000000e-09
GCST90020029_84	Waist circumference adjusted for body mass index	1.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0004531	urate measurement
EFO:1001870	late-onset Alzheimers disease
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	5
Valproic Acid	affects cotreatment, affects expression, decreases expression	5
trichostatin A	affects cotreatment, increases expression	2
sodium arsenite	increases reaction, increases expression, affects binding, affects reaction	2
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	2
bisphenol S	decreases methylation, affects cotreatment, increases expression	2
Acrolein	affects cotreatment, decreases expression, increases abundance	2
Vehicle Emissions	decreases expression, decreases reaction, increases abundance	2
Ozone	affects cotreatment, decreases expression, increases abundance	2
Phenylmercuric Acetate	affects expression, affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression	2
Particulate Matter	decreases expression, decreases reaction, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, decreases methylation	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	affects cotreatment, decreases methylation	1
cinnamaldehyde	increases expression	1
beta-lapachone	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
vanadyl sulfate	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, increases expression, affects expression, affects cotreatment	1

Clinical trials (associated diseases)

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