RBM14

Summary

RBM14 (RNA binding motif protein 14, HGNC:14219) is a protein-coding gene on chromosome 11q13.2, encoding RNA-binding protein 14 (Q96PK6). Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. It is a common-essential gene (DepMap: required in 97.8% of cancer cell lines).

This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene.

Source: NCBI Gene 10432 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 72 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 97.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_006328

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14219
Approved symbol	RBM14
Name	RNA binding motif protein 14
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Aliases	SIP, SYTIP1, COAA, DKFZp779J0927
Ensembl gene	ENSG00000239306
Ensembl biotype	protein_coding
OMIM	612409
Entrez	10432

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000310137, ENST00000393979, ENST00000409372, ENST00000409738, ENST00000443702, ENST00000460762, ENST00000461478, ENST00000496694, ENST00000512283, ENST00000934695

RefSeq mRNA: 3 — MANE Select: NM_006328 NM_001198836, NM_001198837, NM_006328

CCDS: CCDS55772, CCDS55773, CCDS8147

Canonical transcript exons

ENST00000310137 — 3 exons

Exon	Start	End
ENSE00001188244	66626461	66629934
ENSE00001188265	66624214	66625678
ENSE00003902856	66616630	66617057

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 97.64.

FANTOM5 (CAGE): breadth broad, TPM avg 0.7108 / max 29.7496, expressed in 287 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115351	65.0278	1822
115354	0.2701	108
115353	0.1782	65
115352	0.1511	55
115355	0.1114	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.83	gold quality
left ovary	UBERON:0002119	95.77	gold quality
right ovary	UBERON:0002118	95.38	gold quality
cerebellar hemisphere	UBERON:0002245	95.15	gold quality
cerebellar cortex	UBERON:0002129	95.04	gold quality
right testis	UBERON:0004534	94.76	gold quality
ventricular zone	UBERON:0003053	94.72	gold quality
left testis	UBERON:0004533	94.51	gold quality
ganglionic eminence	UBERON:0004023	94.31	gold quality
mucosa of transverse colon	UBERON:0004991	94.26	gold quality
endocervix	UBERON:0000458	94.16	gold quality
body of uterus	UBERON:0009853	94.06	gold quality
lower esophagus mucosa	UBERON:0035834	93.99	gold quality
ovary	UBERON:0000992	93.95	gold quality
adrenal tissue	UBERON:0018303	93.82	gold quality
cerebellum	UBERON:0002037	93.40	gold quality
sural nerve	UBERON:0015488	93.40	gold quality
right lobe of thyroid gland	UBERON:0001119	93.35	gold quality
adenohypophysis	UBERON:0002196	92.94	gold quality
cortical plate	UBERON:0005343	92.93	gold quality
body of pancreas	UBERON:0001150	92.92	gold quality
buccal mucosa cell	CL:0002336	92.77	gold quality
endometrium epithelium	UBERON:0004811	92.75	gold quality
testis	UBERON:0000473	92.68	gold quality
granulocyte	CL:0000094	92.62	gold quality
metanephros cortex	UBERON:0010533	92.61	gold quality
nerve	UBERON:0001021	92.56	gold quality
tibial nerve	UBERON:0001323	92.56	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.53	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6911	no	941.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting RBM14, 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-4531	99.99	69.70	3181
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-545-5P	99.66	70.18	2308

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 22)

• Cloning of the coactivator CoAA gene. (PMID:11443112)
• CoAA regulates transcription-coupled alternative splicing. (PMID:14673176)
• SYT interacts with SYT-interacting protein/co-activator activator (PMID:16227627)
• The CoAA gene is amplified in human cancers (PMID:16878147)
• The switched alternative splicing of CoAA regulates stem cell differentiation. (PMID:17337438)
• CoAA is a potential tumor suppressor in renal carcinoma and CoAM is a counterbalancing splice isoform. (PMID:18829545)
• The alternative splicing imbalance of CoAA and RBM4, because of loss of their common enhancer in cancer, may deregulate stem/progenitor cell differentiation (PMID:19416963)
• CoAA binds Runx2 and prevents Runx2 binding to DNA; CoAA is expressed at high levels in human fetal osteoblasts and osteosarcoma cell lines (PMID:19585539)
• CoAA is involved in the migration-enhancing action of PEA3 on MCF7 metastatic human cancer cells. (PMID:21736557)
• RBM14 promotes radio-resistance in glioblastoma by regulating DNA repair and cell differentiation. (PMID:24811242)
• upon RBM14 depletion, a part of the ectopic centriolar protein complexes in turn assemble into structures more akin to centrioles, presumably by incorporating HsSAS-6, a cartwheel component, and cause multipolar spindle formation. (PMID:25385835)
• This study identifies a cellular protein named RBM14 that is associated with XPO1 (CRM1), a nuclear protein that binds to the HIV-1 Rev protein and mediates nuclear export of incompletely spliced HIV-1 viral RNAs (PMID:25589658)
• RBM14 connects key paraspeckle subcomplexes via interactions mediated by its prion-like domain. (PMID:26283796)
• RBM14 plays crucial role in regulation of non-homologous end joining upon DNA damage. (PMID:28426349)
• The influenza A virus NS1 protein is both necessary and sufficient for RBM14 relocalization, and relocalization also requires the double-stranded RNA (dsRNA) binding capacity of NS1. (PMID:30429226)
• canonical nonhomologous end joining pathway utilizes damage-induced transcription and intrinsically disordered protein RBM14 for efficient repair of double-strand breaks. (PMID:32094185)
• METTL3 promotes m6A hypermethylation of RBM14 via YTHDF1 leading to the progression of hepatocellular carcinoma. (PMID:36087219)
• RBM14 as a novel epigenetic-activated tumor oncogene is implicated in the reprogramming of glycolysis in lung cancer. (PMID:37060064)
• RNA-binding protein 14 promotes phase separation to sustain prostate specific antigen expression under androgen deprivation in human prostate cancer. (PMID:37806532)
• The RNA-binding motif protein 14 regulates telomere integrity at the interface of TERRA and telomeric R-loops. (PMID:37930826)
• NONO promotes gallbladder cancer cell proliferation by enhancing oncogenic RNA splicing of DLG1 through interaction with IGF2BP3/RBM14. (PMID:38341127)
• O-GlcNAcylation of RBM14 contributes to elevated cellular O-GlcNAc through regulation of OGA protein stability. (PMID:38678556)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbm14a	ENSDARG00000012723
danio_rerio	rbm14b	ENSDARG00000103834
mus_musculus	Rbm14	ENSMUSG00000006456
rattus_norvegicus	Rbm14	ENSRNOG00000045568

Paralogs (24): ELAVL1 (ENSG00000066044), PABPC1 (ENSG00000070756), RBMS2 (ENSG00000076067), PABPC4 (ENSG00000090621), PABPC1L (ENSG00000101104), ELAVL2 (ENSG00000107105), RBM24 (ENSG00000112183), TARDBP (ENSG00000120948), HNRNPR (ENSG00000125944), RBM38 (ENSG00000132819), SYNCRIP (ENSG00000135316), SF3B4 (ENSG00000143368), RBMS3 (ENSG00000144642), PABPC3 (ENSG00000151846), RBMS1 (ENSG00000153250), RBM45 (ENSG00000155636), ELAVL4 (ENSG00000162374), PABPC5 (ENSG00000174740), PUF60 (ENSG00000179950), PABPC1L2B (ENSG00000184388), PABPC1L2A (ENSG00000186288), RBM34 (ENSG00000188739), ELAVL3 (ENSG00000196361), PABPC4L (ENSG00000254535)

Protein

Protein identifiers

RNA-binding protein 14 — Q96PK6 (reviewed: Q96PK6)

Alternative names: Paraspeckle protein 2, RNA-binding motif protein 14, RRM-containing coactivator activator/modulator, Synaptotagmin-interacting protein

All UniProt accessions (6): Q96PK6, A0A0S2Z4Z0, A0A0S2Z567, A0A0S2Z5V2, B8ZZ74, F8WDX3

UniProt curated annotations — full annotation on UniProt →

Function. Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Isoform 2, functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1. Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CPAP complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CPAP. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. Also involved in the regulation of pre-mRNA alternative splicing.

Subunit / interactions. Isoform 1: Interacts with NCOA6, CITED1 and XRCC5/KU86. Isoform 1: Interacts with SS18 isoform 1. Isoform 1: Interacts with SS18 isoform 2. Interacts with STIL and interferes with its interaction with CPAP. Interacts with gamma-tubulin. Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA. Interacts with RBPMS; the interaction allows cooperative assembly of RNA-bound stable cell-specific alternative splicing regulatory complexes.

Subcellular location. Nucleus. Nucleolus. Cytoplasm.

Tissue specificity. Expressed in all tissues tested, including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes.

Isoforms (5)

UniProt ID	Names	Canonical?
Q96PK6-1	1, CoAA	yes
Q96PK6-2	2, CoAM
Q96PK6-3	3
Q96PK6-4	4
Q96PK6-5	5

RefSeq proteins (3): NP_001185765, NP_001185766, NP_006319* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034506	RBM14_RRM1	Domain
IPR034507	RBM14_RRM2	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR050907	SRSF	Family

Pfam: PF00076

UniProt features (53 total): modified residue 21, splice variant 8, cross-link 7, region of interest 5, strand 4, domain 2, sequence conflict 2, helix 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DNP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PK6-F1	52.27	0.15

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 (28): 164, 206, 220, 242, 244, 256, 272, 280, 520, 523, 527, 562, 572, 582, 618, 620, 623, 627, 643, 649 …

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8941326	RUNX2 regulates bone development

MSigDB gene sets: 321 (showing top): YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCGCANK_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, CMYB_01, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, chr11q13, CAGCTG_AP4_Q5, YY1_Q6, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, NFKB_Q6

GO Biological Process (14): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA splicing, via spliceosome (GO:0000398), activation of innate immune response (GO:0002218), apoptotic process (GO:0006915), gastrulation (GO:0007369), response to hormone (GO:0009725), innate immune response (GO:0045087), transcription initiation-coupled chromatin remodeling (GO:0045815), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of centriole replication (GO:0046600), centriole assembly (GO:0098534), regulation of response to DNA integrity checkpoint signaling (GO:1902151), immune system process (GO:0002376), gene expression (GO:0010467)

GO Molecular Function (6): transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), mRNA binding (GO:0003729), splicing factor binding (GO:1990935), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), nucleolus (GO:0005730), cytoplasm (GO:0005737), nuclear speck (GO:0016607), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transcriptional regulation by RUNX2	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of DNA-templated transcription	2
binding	2
nuclear lumen	2
cellular anatomical structure	2
protein-containing complex	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
activation of immune response	1
positive regulation of innate immune response	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
ectoderm formation	1
endoderm formation	1
mesoderm formation	1
embryonic morphogenesis	1
response to endogenous stimulus	1
response to chemical	1
immune response	1
defense response to symbiont	1
transcription initiation at RNA polymerase II promoter	1
positive regulation of gene expression, epigenetic	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
centriole replication	1
negative regulation of centrosome duplication	1
regulation of centriole replication	1
negative regulation of organelle assembly	1
microtubule organizing center organization	1
membraneless organelle assembly	1
response to DNA integrity checkpoint signaling	1
regulation of response to cell cycle checkpoint signaling	1
biological_process	1
macromolecule biosynthetic process	1
transcription coregulator activity	1
nucleic acid binding	1
RNA binding	1
protein binding	1

Protein interactions and networks

STRING

2336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBM14	NONO	P30807	996
RBM14	SFPQ	P23246	993
RBM14	PSPC1	Q8WXF1	991
RBM14	MATR3	P43243	883
RBM14	NCOA6	Q14686	765
RBM14	XRCC5	P13010	756
RBM14	FUS	P35637	729
RBM14	SRSF2	Q01130	707
RBM14	SMARCA4	P51532	697
RBM14	SS18	Q15532	676
RBM14	ESR1	P03372	587
RBM14	CPSF6	Q16630	575
RBM14	HNRNPH1	P31943	575
RBM14	HNRNPK	P61978	574
RBM14	DDX3X	O00571	504

IntAct

368 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
RBM45	HNRNPA1	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CTBP1	CBX4	psi-mi:“MI:0914”(association)	0.700
RBM14	HNRNPK	psi-mi:“MI:0915”(physical association)	0.670
USE1	NBAS	psi-mi:“MI:0914”(association)	0.640
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
CFTR	RBM14	psi-mi:“MI:0915”(physical association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
RBM14	HNRNPK	psi-mi:“MI:0915”(physical association)	0.600
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
RBM14	CRLF3	psi-mi:“MI:0915”(physical association)	0.560
CRLF3	RBM14	psi-mi:“MI:0915”(physical association)	0.560
KHDRBS2	RBM14	psi-mi:“MI:0915”(physical association)	0.560
RBM14	HOMER3	psi-mi:“MI:0915”(physical association)	0.560
ATN1	RBM14	psi-mi:“MI:0915”(physical association)	0.560
NFKBID	RBM14	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (811): RBM14 (Affinity Capture-RNA), RBM14 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), RBM14 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), RBM14 (Affinity Capture-MS), RBM14 (Biochemical Activity), RBM14 (Affinity Capture-MS), RBM14 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), RBM14 (Affinity Capture-MS), RBM14 (Affinity Capture-MS), RBM14 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS)

ESM2 similar proteins: A1A5R1, A4F5G6, A6QPR6, O43251, O75112, O80910, O88935, P09951, P0C1X8, P16376, P17599, P17600, P23512, P32242, P35582, P43693, P43694, P46152, P49750, P55317, P80205, Q08369, Q0Q0E4, Q10667, Q29W20, Q3UHJ0, Q4P7Q1, Q503S1, Q5EA36, Q5HY92, Q5NVN8, Q5RC41, Q63410, Q63627, Q6DID3, Q7TN99, Q7TSH6, Q7ZT82, Q8BP71, Q8C2Q3

Diamond homologs: A0A8M1NHK4, A0AV96, A0JM51, A4FV72, A4QUF0, A8WLV5, O01671, O04425, O43040, O43390, O60506, P28659, P33240, P86049, Q08BH5, Q08E07, Q0P4R6, Q0V9L3, Q10B98, Q14498, Q28HE9, Q2HJG2, Q2UK72, Q3UEB3, Q4QQT3, Q4R2Z0, Q4R535, Q5B630, Q5EA36, Q5R469, Q5R5P4, Q5R723, Q5R9H4, Q5RC41, Q5RC80, Q5RDA3, Q5SZQ8, Q5YD48, Q66H68, Q6DCB7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 226 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
Activation of BAD and translocation to mitochondria	6	30.1×	1e-05
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	26.5×	1e-05
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	26.5×	1e-05
Activation of BH3-only proteins	6	19.6×	5e-05
Intrinsic Pathway for Apoptosis	7	13.5×	5e-05
RHO GTPases activate PKNs	6	12.5×	4e-04
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	5	9.9×	5e-03
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	9.1×	5e-05

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	7	15.3×	1e-04
protein targeting	7	13.3×	3e-04
positive regulation of transcription elongation by RNA polymerase II	8	12.5×	1e-04
sprouting angiogenesis	5	12.5×	7e-03
cell surface receptor protein tyrosine kinase signaling pathway	13	11.7×	1e-07
protein autophosphorylation	9	6.8×	2e-03
intracellular protein localization	10	5.4×	3e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	12	4.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

658 predictions. Top by Δscore:

Variant	Effect	Δscore
11:66617052:TGAA:T	donor_gain	1.0000
11:66617053:GAAA:G	donor_gain	1.0000
11:66617054:AAAG:A	donor_gain	1.0000
11:66617055:AAG:A	donor_loss	1.0000
11:66617056:AGG:A	donor_loss	1.0000
11:66617058:G:C	donor_loss	1.0000
11:66617058:G:GC	donor_loss	1.0000
11:66617059:T:A	donor_loss	1.0000
11:66618553:GGCT:G	donor_gain	1.0000
11:66618554:GCTG:G	donor_gain	1.0000
11:66624212:A:AG	acceptor_gain	1.0000
11:66624213:G:GA	acceptor_gain	1.0000
11:66624213:GACT:G	acceptor_gain	1.0000
11:66625677:AGG:A	donor_loss	1.0000
11:66625679:G:GA	donor_loss	1.0000
11:66626457:CTAG:C	acceptor_loss	1.0000
11:66626459:A:T	acceptor_loss	1.0000
11:66626460:G:GA	acceptor_loss	1.0000
11:66626460:GGT:G	acceptor_gain	1.0000
11:66626665:G:GG	donor_gain	1.0000
11:66618551:C:T	donor_gain	0.9900
11:66624203:T:A	acceptor_gain	0.9900
11:66624203:T:TA	acceptor_gain	0.9900
11:66624210:TCAG:T	acceptor_loss	0.9900
11:66624211:CAGAC:C	acceptor_loss	0.9900
11:66624212:A:C	acceptor_loss	0.9900
11:66624212:AGACT:A	acceptor_loss	0.9900
11:66624213:G:T	acceptor_loss	0.9900
11:66624213:GA:G	acceptor_gain	0.9900
11:66624213:GAC:G	acceptor_gain	0.9900

AlphaMissense

4211 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:66616728:T:A	I3K	1.000
11:66616730:T:C	F4L	1.000
11:66616731:T:C	F4S	1.000
11:66616731:T:G	F4C	1.000
11:66616732:C:A	F4L	1.000
11:66616732:C:G	F4L	1.000
11:66616785:T:C	F22S	1.000
11:66616829:T:C	F37L	1.000
11:66616830:T:C	F37S	1.000
11:66616831:C:A	F37L	1.000
11:66616831:C:G	F37L	1.000
11:66616835:T:C	F39L	1.000
11:66616836:T:C	F39S	1.000
11:66616836:T:G	F39C	1.000
11:66616837:C:A	F39L	1.000
11:66616837:C:G	F39L	1.000
11:66616958:A:G	K80E	1.000
11:66616960:G:C	K80N	1.000
11:66616960:G:T	K80N	1.000
11:66616962:T:A	I81N	1.000
11:66616962:T:C	I81T	1.000
11:66616962:T:G	I81S	1.000
11:66616964:T:A	F82I	1.000
11:66616964:T:C	F82L	1.000
11:66616964:T:G	F82V	1.000
11:66616965:T:C	F82S	1.000
11:66616965:T:G	F82C	1.000
11:66616966:C:A	F82L	1.000
11:66616966:C:G	F82L	1.000
11:66616968:T:A	V83E	1.000

dbSNP variants (sampled 300 via entrez): RS1000146641 (11:66626189 A>G), RS1000181826 (11:66628323 C>G,T), RS1000260185 (11:66628146 T>C,G), RS1000331972 (11:66614705 C>G,T), RS1000418099 (11:66621992 C>T), RS1000592771 (11:66629262 C>T), RS1000721055 (11:66623883 G>A), RS1000789279 (11:66622287 G>A,C), RS1000938109 (11:66619300 G>A,C), RS1000941162 (11:66617442 C>G,T), RS1000947990 (11:66619048 C>A,G), RS1001155177 (11:66623613 C>T), RS1001305980 (11:66628552 T>C), RS1001486793 (11:66621020 T>C,G), RS1001589736 (11:66622475 C>G,T)

Disease associations

OMIM: gene MIM:612409 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001241_12	Bipolar disorder	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066402 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methacrylaldehyde	increases abundance, affects cotreatment, increases expression	2
perfluorooctane sulfonic acid	decreases expression	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Air Pollutants	increases expression, affects cotreatment, increases abundance	2
Estradiol	increases expression	2
Folic Acid	decreases expression, affects cotreatment, increases expression	2
Ozone	affects cotreatment, increases expression, increases abundance	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	affects expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	increases expression	2
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
beta-lapachone	decreases expression	1
methylparaben	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
coumarin	increases phosphorylation	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652244	Binding	Binding affinity to human RBM14 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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