RBM46 (RNA binding motif protein 46)

Gene

• Entrez ID: 166863
• Gene name: RNA binding motif protein 46
• Gene symbol: RBM46
• Synonyms (NCBI Gene): CT68
• Chromosome: 4
• Chromosome location: 4q32.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018031	hsa-miR-335-5p	Microarray	18185580
MIRT1296363	hsa-miR-3611	CLIP-seq
MIRT1296364	hsa-miR-3663-5p	CLIP-seq
MIRT1296365	hsa-miR-758	CLIP-seq
MIRT2088090	hsa-miR-4427	CLIP-seq
MIRT2088091	hsa-miR-4680-3p	CLIP-seq
MIRT2088092	hsa-miR-4716-5p	CLIP-seq
MIRT2088093	hsa-miR-4778-5p	CLIP-seq
MIRT2609226	hsa-miR-3673	CLIP-seq
MIRT2609226	hsa-miR-3673	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0007143	Process	Female meiotic nuclear division	IEA
GO:0007143	Process	Female meiotic nuclear division	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030895	Component	Apolipoprotein B mRNA editing enzyme complex	IEA
GO:0048255	Process	MRNA stabilization	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0048515	Process	Spermatid differentiation	IEA
GO:0048515	Process	Spermatid differentiation	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051728	Process	Cell cycle switching, mitotic to meiotic cell cycle	IEA
GO:0051728	Process	Cell cycle switching, mitotic to meiotic cell cycle	ISS
GO:0140767	Function	Enzyme-substrate adaptor activity	IEA
GO:1902373	Process	Negative regulation of mRNA catabolic process	IEA

Other IDs

• MIM: 620147
• HGNC: 28401
• e!Ensembl: ENSG00000151962

Protein

• UniProt ID: Q8TBY0
• Protein name: Probable RNA-binding protein 46 (Cancer/testis antigen 68) (CT68) (RNA-binding motif protein 46)
• Protein function: Essential for male and female fertility, playing a crucial role in regulating germ cell development by ensuring the proper progression of meiosis prophase I (By similarity). Regulates mitotic-to-meiotic transition in spermatogenesis by forming a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	63 → 131	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	143 → 210	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	238 → 302	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF14709	DND1_DSRM	392 → 468		Domain

• Sequence:

  MNEENIDGTNGCSKVRTGIQNEAALLALMEKTGYNMVQENGQRKFGGPPPGWEGPPPPRG
  CEVFVGKIPRDMYEDELVPVFERAGKIYEFRLMMEFSGENRGYAFVMYTTKEEAQLAIRI
  LNNYEIRPGKFIGVCVSLDNCRLFIGAIPKEKKKEEILDEMKKVTEGVVDVIVYPSATDK
  TKNRGFAFVEYESHRAAAMARRKLIPGTFQLWGHTIQVDWADPEKEVDEETMQRVKVLYV
  RNLMISTTEETIKAEFNKFKPGAVERVKKLRDYAFVHFFNREDAVAAMSVMNGKCIDGAS
  IEVTLAKPVNKENTWRQHLNGQISPNSENLIVFANKEESHPKTLGKLPTLPARLNGQHSP
  SPPEVERCTYPFYPGTKLTPISMYSLKSNHFNSAVMHLDYYCNKNNWAPPEYYLYSTTSQ
  DGKVLLVYKIVIPAIANGSQSYFMPDKLCTTLEDAKELAAQFTLLHLDYNFHRSSINSLS
  PVSATLSSGTPSVLPYTSRPYSYPGYPLSPTISLANGSHVGQRLCISNQASFF

• Sequence length: 533

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	25803781	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30362892		★☆☆☆☆ Found in Text Mining only