RBM24

Summary

RBM24 (RNA binding motif protein 24, HGNC:21539) is a protein-coding gene on chromosome 6p22.3, encoding RNA-binding protein 24 (Q9BX46). Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation.

Enables mRNA 3’-UTR AU-rich region binding activity; mRNA CDS binding activity; and sequence-specific mRNA binding activity. Involved in several processes, including negative regulation of cytoplasmic translation; positive regulation of cell differentiation; and regulation of mRNA metabolic process. Located in cytosol and nucleoplasm.

Source: NCBI Gene 221662 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_001143942

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21539
Approved symbol	RBM24
Name	RNA binding motif protein 24
Location	6p22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ30829, dJ259A10.1
Ensembl gene	ENSG00000112183
Ensembl biotype	protein_coding
OMIM	617603
Entrez	221662

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000318204, ENST00000379052, ENST00000425446, ENST00000503965, ENST00000504055, ENST00000508508, ENST00000509686, ENST00000510826

RefSeq mRNA: 3 — MANE Select: NM_001143942 NM_001143941, NM_001143942, NM_153020

CCDS: CCDS4538, CCDS47378, CCDS47379

Canonical transcript exons

ENST00000379052 — 4 exons

Exon	Start	End
ENSE00001623370	17291756	17293871
ENSE00002081651	17281361	17281749
ENSE00003493041	17284657	17284711
ENSE00003537763	17282805	17282928

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 99.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6743 / max 1347.5723, expressed in 1005 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66126	5.0325	611
66125	2.4181	403
66127	0.9711	608
66128	0.5309	353
66136	0.2457	44
66134	0.1664	45
66129	0.1029	34
66133	0.0792	39
66135	0.0682	23
66130	0.0329	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	99.72	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.62	gold quality
left ventricle myocardium	UBERON:0006566	99.49	gold quality
quadriceps femoris	UBERON:0001377	99.45	gold quality
deltoid	UBERON:0001476	99.42	gold quality
vastus lateralis	UBERON:0001379	99.41	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.36	gold quality
skeletal muscle tissue	UBERON:0001134	99.15	gold quality
biceps brachii	UBERON:0001507	98.97	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.95	gold quality
myocardium	UBERON:0002349	98.86	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.84	gold quality
gastrocnemius	UBERON:0001388	98.70	gold quality
muscle of leg	UBERON:0001383	98.07	gold quality
cardiac atrium	UBERON:0002081	98.03	gold quality
right atrium auricular region	UBERON:0006631	97.96	gold quality
heart right ventricle	UBERON:0002080	97.79	gold quality
muscle tissue	UBERON:0002385	97.40	gold quality
cardiac ventricle	UBERON:0002082	97.18	gold quality
heart left ventricle	UBERON:0002084	97.16	gold quality
body of tongue	UBERON:0011876	96.54	gold quality
apex of heart	UBERON:0002098	95.72	gold quality
heart	UBERON:0000948	95.56	gold quality
vena cava	UBERON:0004087	91.79	gold quality
oviduct epithelium	UBERON:0004804	91.50	gold quality
smooth muscle tissue	UBERON:0001135	91.48	gold quality
bronchial epithelial cell	CL:0002328	91.17	gold quality
endothelial cell	CL:0000115	90.77	gold quality
popliteal artery	UBERON:0002250	90.15	gold quality
tibial artery	UBERON:0007610	90.13	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.94

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1, TP53

miRNA regulators (miRDB)

147 targeting RBM24, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 22)

• it was found that this protein Rbm24 regulates myogenic differentiation via the p21 signal pathway. (PMID:19817877)
• Rbm24 is a novel player in the p53 pathway, which may be explored to restore proper cell cycle control in p53-deficient tumors via p21. (PMID:24356969)
• Study suggests that p63 is regulated by RBM24 via mRNA stability, which gives an insight into understanding how posttranscriptional regulatory mechanisms contribute to p63 expression. (PMID:24375645)
• Authors have identified a new function of microRNA-222 leading to alteration of myogenic differentiation at the level of alternative splicing, and provided evidence that this effect is mediated by Rbm24 protein. (PMID:26844700)
• embryonic stem cell switching into the differentiation state can be initiated by a tissue-specific splicing regulator, Rbm24. (PMID:26990106)
• RBM24 acts at least in part through upregulating the expression of miR-25, which in turn targets MALAT1 for degradation. (PMID:27584791)
• Our results show that tissue-specific expression of RBM24 can explain the neuron-specific aberrant splicing of IKBKAP exon 20 in familial dysautonomia, and that ectopic expression of RBM24 in neuronal tissue could be a novel therapeutic target of the disease. (PMID:28592461)
• Data suggests that RBM24 binds to coding region of CHRM2 to regulate mRNA stability in cardiomyocytes; RBM24appears to drive changes in alternative splicing and in production of alternative transcript isoforms. (RBM24 = RNA binding motif protein-24; CHRM2 = cholinergic receptor muscarinic 2) (PMID:29104163)
• The RBM24 is a novel host factor involved in HCV replication and may function at the switch from translation to replication. (PMID:29380205)
• RBM24 interacted with the 5’ TR of HBV pregenomic RNA to block 80S ribosome assembly on HBV pgRNA and thus inhibited core protein translation, whereas the interaction between RBM24 and the 3’ TR enhanced the stability of HBV RNA. (PMID:29760415)
• The host factor RBM24 is involved in pregenomic RNA (pgRNA) packaging. (PMID:30626666)
• Circular RNA SMARCA5 suppressed non-small cell lung cancer progression by regulating miR-670-5p/RBM24 axis. (PMID:33085761)
• TRIM56 suppresses the malignant development of hepatocellular carcinoma via targeting RBM24 and inactivating the Wnt signaling. (PMID:33577026)
• RBM24 exacerbates bladder cancer progression by forming a Runx1t1/TCF4/miR-625-5p feedback loop. (PMID:34021255)
• TPRG1-AS1 induces RBM24 expression and inhibits liver cancer progression by sponging miR-4691-5p and miR-3659. (PMID:34328265)
• RNA-binding protein RBM24 represses colorectal tumourigenesis by stabilising PTEN mRNA. (PMID:34709758)
• Alternative Splicing Mediated by RNA-Binding Protein RBM24 Facilitates Cardiac Myofibrillogenesis in a Differentiation Stage-Specific Manner. (PMID:34816743)
• RBM24 controls cardiac QT interval through CaMKIIdelta splicing. (PMID:36454480)
• RBM24 inhibits the translation of SARS-CoV-2 polyproteins by targeting the 5’-untranslated region. (PMID:36464077)
• MiR-20a-5p targets RBM24 and alleviates hypertensive intracerebral hemorrhage. (PMID:38158676)
• YAP1-induced RBM24 promotes the tumorigenesis of triple-negative breast cancer through the beta-catenin pathway. (PMID:38441112)
• Rbm24 modulates neuronal RNA splicing to restrict cognitive dysfunction. (PMID:39004256)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbm24b	ENSDARG00000031809
danio_rerio	rbm24a	ENSDARG00000102995
mus_musculus	Rbm24	ENSMUSG00000038132
rattus_norvegicus	Rbm24	ENSRNOG00000046547

Paralogs (24): ELAVL1 (ENSG00000066044), PABPC1 (ENSG00000070756), RBMS2 (ENSG00000076067), PABPC4 (ENSG00000090621), PABPC1L (ENSG00000101104), ELAVL2 (ENSG00000107105), 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), RBM14 (ENSG00000239306), PABPC4L (ENSG00000254535)

Protein

Protein identifiers

RNA-binding protein 24 — Q9BX46 (reviewed: Q9BX46)

Alternative names: RNA-binding motif protein 24, RNA-binding region-containing protein 6

All UniProt accessions (4): A8KAI7, Q9BX46, H0Y8S7, H0YA61

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation. Plays a major role in pre-mRNA alternative splicing regulation. Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation. Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing. Involved in embryonic stem cell (ESC) transition to cardiac cell differentiation by promoting pre-mRNA alternative splicing events of several pluripotency and/or differentiation genes. Plays a role in the regulation of mRNA stability. Binds to 3’-untranslated region (UTR) AU-rich elements in target transcripts, such as CDKN1A and MYOG, leading to maintain their stabilities. Involved in myogenic differentiation by regulating MYOG levels. Binds to multiple regions in the mRNA 3’-UTR of TP63 isoform 2, hence inducing its destabilization. Also promotes the destabilization of the CHRM2 mRNA via its binding to a region in the coding sequence. Plays a role in the regulation of mRNA translation. Mediates repression of p53/TP53 mRNA translation through its binding to U-rich element in the 3’-UTR, hence preventing EIF4E from binding to p53/TP53 mRNA and translation initiation. Binds to a huge amount of mRNAs. Required for embryonic heart development, sarcomer and M-band formation in striated muscles. Together with RBM20, promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes. (Microbial infection) Promotes hepatitis C virus (HCV) replication over translation through the inhibition of viral protein expression. Decreases viral translation by linking viral 5’- and 3’-UTRs, blocking 80S ribosome assembly on the viral IRES and enhancing the interaction of the mature core protein and 5’-UTR.

Subunit / interactions. Interacts with EIF4E; this interaction prevents EIF4E from binding to p53/TP53 mRNA and inhibits the assembly of translation initiation complex. (Microbial infection) Interacts with HCV mature core protein; this interaction, which enhances the interaction of Core with 5’-UTR may favor viral replication over translation. (Microbial infection) Interacts with HCV Serine protease/helicase NS3.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in fetal and adult heart and skeletal muscles.

Domain organisation. The RRM domain is necessary for mRNA stability and mRNA translation regulation.

Induction. By p53/TP53 following DNA damage (at protein level). Up-regulated during embryonic stem cell (ESC) differentiation into cardiomyocytes.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BX46-1	1	yes
Q9BX46-2	2
Q9BX46-5	3

RefSeq proteins (3): NP_001137413, NP_001137414, NP_694565 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR050886	RNA-binding_reg	Family

Pfam: PF00076

UniProt features (8 total): splice variant 2, mutagenesis site 2, chain 1, domain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BX46-F1	66.98	0.36

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 (2):

Position	Phenotype
181	decreases p53/tp53 expression.
181	increases p53/tp53 expression.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 233 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_CYTOPLASMIC_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION, GOBP_MUSCLE_TISSUE_DEVELOPMENT, TGCGCANK_UNKNOWN, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_REGULATION_OF_SKELETAL_MUSCLE_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_ENDOCARDIAL_CUSHION_DEVELOPMENT, SP3_Q3, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_3_UTR_MEDIATED_MRNA_STABILIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION

GO Biological Process (18): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), endocardial cushion development (GO:0003197), mRNA processing (GO:0006397), DNA damage response (GO:0006974), RNA splicing (GO:0008380), regulation of myotube differentiation (GO:0010830), positive regulation of myotube differentiation (GO:0010831), cell differentiation (GO:0030154), regulation of mRNA stability (GO:0043488), positive regulation of myoblast differentiation (GO:0045663), mRNA stabilization (GO:0048255), mRNA destabilization (GO:0061157), 3’-UTR-mediated mRNA destabilization (GO:0061158), positive regulation of skeletal muscle fiber differentiation (GO:1902811), positive regulation of 3’-UTR-mediated mRNA stabilization (GO:1905870), positive regulation of stem cell differentiation (GO:2000738), negative regulation of cytoplasmic translation (GO:2000766), regulation of translation (GO:0006417)

GO Molecular Function (8): mRNA 3’-UTR binding (GO:0003730), mRNA 3’-UTR AU-rich region binding (GO:0035925), pre-mRNA intronic binding (GO:0097157), mRNA CDS binding (GO:1990715), sequence-specific mRNA binding (GO:1990825), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mRNA binding	3
cellular anatomical structure	3
RNA processing	2
myotube differentiation	2
positive regulation of cell differentiation	2
regulation of mRNA stability	2
binding	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
heart development	1
mesenchyme development	1
mRNA metabolic process	1
cellular response to stress	1
regulation of striated muscle cell differentiation	1
regulation of myotube differentiation	1
positive regulation of striated muscle cell differentiation	1
cellular developmental process	1
regulation of RNA stability	1
regulation of mRNA catabolic process	1
myoblast differentiation	1
regulation of myoblast differentiation	1
RNA stabilization	1
negative regulation of mRNA catabolic process	1
negative regulation of gene expression	1
RNA destabilization	1
positive regulation of mRNA catabolic process	1
mRNA destabilization	1
positive regulation of myotube differentiation	1
skeletal muscle fiber differentiation	1
regulation of skeletal muscle fiber differentiation	1
positive regulation of skeletal muscle cell differentiation	1
positive regulation of gene expression	1
3’-UTR-mediated mRNA stabilization	1
regulation of 3’-UTR-mediated mRNA stabilization	1
stem cell differentiation	1
regulation of stem cell differentiation	1
cytoplasmic translation	1
negative regulation of translation	1
regulation of cytoplasmic translation	1
translation	1

Protein interactions and networks

STRING

840 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBM24	STK38	Q15208	689
RBM24	RBM20	Q5T481	630
RBM24	STMND1	H3BQB6	570
RBM24	PABPC1	P11940	537
RBM24	RBFOX1	Q9NWB1	535
RBM24	CELF1	Q92879	517
RBM24	MBNL1	Q9NR56	513
RBM24	SRSF10	O75494	505
RBM24	IMPG2	Q9BZV3	447
RBM24	ESRP1	Q6NXG1	436
RBM24	CORO6	Q6QEF8	434
RBM24	KHDRBS2	Q5VWX1	422
RBM24	MAB21L2	Q9Y586	393
RBM24	UNC5D	Q6UXZ4	391
RBM24	NOVA1	P51513	372

IntAct

7 interactions, top by confidence:

A	B	Type	Score
SS18L2	SMARCA2	psi-mi:“MI:0914”(association)	0.570
RBM24	PPL	psi-mi:“MI:0914”(association)	0.530
RBM38	RAF1	psi-mi:“MI:0914”(association)	0.350
PIK3IP1	POTEF	psi-mi:“MI:0914”(association)	0.350
RBFOX1	RBM24	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (78): EPPK1 (Affinity Capture-MS), JUP (Affinity Capture-MS), SERPINB13 (Affinity Capture-MS), CALML5 (Affinity Capture-MS), H2AFY (Affinity Capture-MS), TRIM29 (Affinity Capture-MS), IGHG2 (Affinity Capture-MS), IGHG1 (Affinity Capture-MS), RBM38 (Affinity Capture-MS), LGALS7B (Affinity Capture-MS), CALML3 (Affinity Capture-MS), SERPINB5 (Affinity Capture-MS), PKP1 (Affinity Capture-MS), IVL (Affinity Capture-MS), ANKRD40 (Affinity Capture-MS)

ESM2 similar proteins: A0JM51, A4IIM2, D3Z4I3, M0R7T6, O57406, O88532, P29558, Q08E07, Q0V9L3, Q15434, Q28HE9, Q3ZBP3, Q3ZC34, Q4R535, Q562A2, Q5NVC8, Q5PQP1, Q5R995, Q5RBD3, Q5REX3, Q5SZQ8, Q5U231, Q5ZJX4, Q5ZMA3, Q62176, Q6DGV1, Q6DIV4, Q6GPM1, Q6GQD3, Q6P8A7, Q6PCR6, Q6XE24, Q76LC6, Q7T3I7, Q7TSY6, Q7ZWM3, Q7ZXE2, Q8BWL5, Q8CIN6, Q8N6W0

Diamond homologs: A0A0A0LLY1, A0A0D1C8Z4, A5A6M3, C0HFE5, D3Z4I3, D4AE41, M0R7T6, O22703, O35698, O75526, O89086, O93235, P04147, P0C8Z4, P10979, P19682, P19683, P19684, P28644, P38159, P39697, P48809, P49310, P49311, P49313, P49314, P60824, P60825, P60826, P84586, P98179, Q03250, Q03251, Q03878, Q04836, Q05966, Q08473, Q08935, Q08937, Q14011

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
STK38	“up-regulates activity”	RBM24	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

810 predictions. Top by Δscore:

Variant	Effect	Δscore
6:17281745:GATTT:G	donor_gain	1.0000
6:17281746:ATTT:A	donor_gain	1.0000
6:17281747:TTT:T	donor_gain	1.0000
6:17281750:G:GG	donor_gain	1.0000
6:17282798:T:A	acceptor_gain	1.0000
6:17282803:A:G	acceptor_gain	1.0000
6:17282929:GT:G	donor_loss	1.0000
6:17284710:GG:G	donor_gain	1.0000
6:17284711:GG:G	donor_gain	1.0000
6:17281696:G:GT	donor_gain	0.9900
6:17281747:TTTGT:T	donor_loss	0.9900
6:17281748:TT:T	donor_gain	0.9900
6:17281748:TTGTA:T	donor_loss	0.9900
6:17281750:GTAAG:G	donor_loss	0.9900
6:17281751:T:A	donor_loss	0.9900
6:17282791:T:TA	acceptor_gain	0.9900
6:17282795:T:TA	acceptor_gain	0.9900
6:17282802:A:AG	acceptor_gain	0.9900
6:17282803:A:T	acceptor_loss	0.9900
6:17282804:G:GA	acceptor_loss	0.9900
6:17282924:ACCAG:A	donor_gain	0.9900
6:17282929:G:GG	donor_gain	0.9900
6:17284652:GTTA:G	acceptor_loss	0.9900
6:17284653:TTA:T	acceptor_loss	0.9900
6:17284654:TA:T	acceptor_loss	0.9900
6:17284709:CGGG:C	donor_loss	0.9900
6:17284711:GGTA:G	donor_loss	0.9900
6:17284712:G:A	donor_loss	0.9900
6:17284713:TAAGT:T	donor_loss	0.9900
6:17284714:A:AC	donor_loss	0.9900

AlphaMissense

1501 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:17281600:G:C	D7H	1.000
6:17281613:C:T	T11I	1.000
6:17281615:A:C	K12Q	1.000
6:17281615:A:G	K12E	1.000
6:17281616:A:T	K12M	1.000
6:17281617:G:C	K12N	1.000
6:17281617:G:T	K12N	1.000
6:17281619:T:A	I13N	1.000
6:17281619:T:C	I13T	1.000
6:17281619:T:G	I13S	1.000
6:17281621:T:A	F14I	1.000
6:17281621:T:C	F14L	1.000
6:17281621:T:G	F14V	1.000
6:17281622:T:C	F14S	1.000
6:17281622:T:G	F14C	1.000
6:17281623:C:A	F14L	1.000
6:17281623:C:G	F14L	1.000
6:17281624:G:C	V15L	1.000
6:17281624:G:T	V15F	1.000
6:17281625:T:A	V15D	1.000
6:17281627:G:A	G16R	1.000
6:17281627:G:C	G16R	1.000
6:17281627:G:T	G16W	1.000
6:17281628:G:A	G16E	1.000
6:17281628:G:T	G16V	1.000
6:17281630:G:A	G17R	1.000
6:17281630:G:C	G17R	1.000
6:17281630:G:T	G17W	1.000
6:17281631:G:A	G17E	1.000
6:17281631:G:T	G17V	1.000

dbSNP variants (sampled 300 via entrez): RS1000044571 (6:17282621 A>C,G), RS1000099957 (6:17282037 G>A,T), RS1000213047 (6:17285404 A>T), RS1000330230 (6:17288012 A>T), RS1000532626 (6:17283916 A>T), RS1001277758 (6:17289570 A>G,T), RS1001591392 (6:17279372 G>A,T), RS1002093545 (6:17293290 A>G), RS1002268711 (6:17286659 G>A), RS1002393196 (6:17281188 A>G), RS1002472710 (6:17293649 G>A), RS1002737464 (6:17290623 T>C,G), RS1002769603 (6:17289883 G>A), RS1002895186 (6:17280978 G>A), RS1002930001 (6:17283952 T>G)

Disease associations

OMIM: gene MIM:617603 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001491_31	Immune response to smallpox vaccine (IL-6)	6.000000e-07
GCST002726_8	Glucose homeostasis traits	5.000000e-06
GCST005024_72	Pursuit maintenance gain	1.000000e-06
GCST009391_447	Metabolite levels	3.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0006830	insulin metabolic clearance rate measurement
EFO:0008433	pursuit maintenance gain measurement
EFO:0010386	phosphatidylcholine 38:4 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	9
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	5
trichostatin A	increases expression, affects cotreatment, decreases expression	4
Estradiol	affects cotreatment, increases expression	4
bisphenol A	affects expression, decreases expression	3
sodium arsenite	increases abundance, increases expression, affects cotreatment	3
Cyclosporine	increases expression	3
Aflatoxin B1	affects expression, increases expression, increases methylation	3
entinostat	decreases expression, affects cotreatment	2
Panobinostat	decreases expression, affects cotreatment	2
Ethinyl Estradiol	affects expression, increases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
propionaldehyde	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	affects binding, decreases reaction	1
afimoxifene	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
ferrous chloride	increases expression	1
nickel sulfate	increases expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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