Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84060
Gene name Gene Name - the full gene name approved by the HGNC.	RNA binding motif protein 48
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RBM48
Synonyms (NCBI Gene) Gene synonyms aliases	C7orf64, HSPC304
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q21.2

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SNP ID	Visualize variation	Clinical significance	Consequence
rs372607453	A>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT716163	hsa-miR-188-5p	HITS-CLIP	19536157
MIRT716162	hsa-miR-6866-3p	HITS-CLIP	19536157
MIRT716161	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT716160	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT716159	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT716158	hsa-miR-4284	HITS-CLIP	19536157
MIRT716157	hsa-miR-24-3p	HITS-CLIP	19536157
MIRT716156	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT716155	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT716154	hsa-miR-30c-1-3p	HITS-CLIP	19536157
MIRT716153	hsa-miR-30c-2-3p	HITS-CLIP	19536157
MIRT716152	hsa-miR-6788-5p	HITS-CLIP	19536157
MIRT716151	hsa-miR-1273h-5p	HITS-CLIP	19536157
MIRT716150	hsa-miR-30b-3p	HITS-CLIP	19536157
MIRT716149	hsa-miR-3689a-3p	HITS-CLIP	19536157
MIRT716148	hsa-miR-3689b-3p	HITS-CLIP	19536157
MIRT716147	hsa-miR-3689c	HITS-CLIP	19536157
MIRT716146	hsa-miR-6779-5p	HITS-CLIP	19536157
MIRT716145	hsa-miR-6780a-5p	HITS-CLIP	19536157
MIRT716144	hsa-miR-450a-1-3p	HITS-CLIP	19536157
MIRT716143	hsa-miR-3122	HITS-CLIP	19536157
MIRT716142	hsa-miR-3913-5p	HITS-CLIP	19536157
MIRT716141	hsa-miR-887-5p	HITS-CLIP	19536157
MIRT716140	hsa-miR-6513-5p	HITS-CLIP	19536157
MIRT666654	hsa-miR-5697	HITS-CLIP	23824327
MIRT666653	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT666652	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666651	hsa-miR-1281	HITS-CLIP	23824327
MIRT666650	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666649	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT666648	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT666647	hsa-miR-1297	HITS-CLIP	23824327
MIRT666646	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT666645	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT666644	hsa-miR-4465	HITS-CLIP	23824327
MIRT666643	hsa-miR-8057	HITS-CLIP	23824327
MIRT526443	hsa-miR-20a-3p	PAR-CLIP	22012620
MIRT526442	hsa-miR-302c-5p	PAR-CLIP	22012620
MIRT526441	hsa-miR-552-5p	PAR-CLIP	22012620
MIRT716163	hsa-miR-188-5p	HITS-CLIP	19536157
MIRT716162	hsa-miR-6866-3p	HITS-CLIP	19536157
MIRT716161	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT716160	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT716159	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT716158	hsa-miR-4284	HITS-CLIP	19536157
MIRT716157	hsa-miR-24-3p	HITS-CLIP	19536157
MIRT716156	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT716155	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT716154	hsa-miR-30c-1-3p	HITS-CLIP	19536157
MIRT716153	hsa-miR-30c-2-3p	HITS-CLIP	19536157
MIRT716152	hsa-miR-6788-5p	HITS-CLIP	19536157
MIRT716151	hsa-miR-1273h-5p	HITS-CLIP	19536157
MIRT716150	hsa-miR-30b-3p	HITS-CLIP	19536157
MIRT716149	hsa-miR-3689a-3p	HITS-CLIP	19536157
MIRT716148	hsa-miR-3689b-3p	HITS-CLIP	19536157
MIRT716147	hsa-miR-3689c	HITS-CLIP	19536157
MIRT716146	hsa-miR-6779-5p	HITS-CLIP	19536157
MIRT716145	hsa-miR-6780a-5p	HITS-CLIP	19536157
MIRT716144	hsa-miR-450a-1-3p	HITS-CLIP	19536157
MIRT716143	hsa-miR-3122	HITS-CLIP	19536157
MIRT716142	hsa-miR-3913-5p	HITS-CLIP	19536157
MIRT716141	hsa-miR-887-5p	HITS-CLIP	19536157
MIRT716140	hsa-miR-6513-5p	HITS-CLIP	19536157
MIRT666654	hsa-miR-5697	HITS-CLIP	23824327
MIRT666653	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT666652	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666651	hsa-miR-1281	HITS-CLIP	23824327
MIRT666650	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666649	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT666648	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT666647	hsa-miR-1297	HITS-CLIP	23824327
MIRT666646	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT666645	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT666644	hsa-miR-4465	HITS-CLIP	23824327
MIRT666643	hsa-miR-8057	HITS-CLIP	23824327
MIRT526443	hsa-miR-20a-3p	PAR-CLIP	22012620
MIRT526442	hsa-miR-302c-5p	PAR-CLIP	22012620
MIRT526441	hsa-miR-552-5p	PAR-CLIP	22012620

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA

MIM	HGNC	e!Ensembl
621015	21785	ENSG00000127993

Protein

UniProt ID

Q5RL73

Protein name

RNA-binding protein 48

Protein function

As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.

PDB

7DVQ

Family and domains

Sequence

MASSGGELGSLFDHHVQRAVCDTRAKYREGRRPRAVKVYTINLESQYLLIQGVPAVGVMK
ELVERFALYGAIEQYNALDEYPAEDFTEVYLIKFMNLQSARTAKRKMDEQSFFGGLLHVC
YAPEFETVEETRKKLQMRKAYVVKTTENKDHYVTKKKLVTEHKDTEDFRQDFHSEMSGFC
KAALNTSAGNSNPYLPYSCELPLCYFSSKCMCSSGGPVDRAPDSSKDGRNHHKTMGHYNH
NDSLRKTQINSLKNSVACPGAQKAITSSEAVDRFMPRTTQLQERKRRREDDRKLGTFLQT
NPTGNEIMIGPLLPDISKVDMHDDSLNTTANLIRHKLKEVISSVPKPPEDKPEDVHTSHP
LKQRRRI

Sequence length

367

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Nephronophthisis	Nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856 View all (190 more)	26489029

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Ciliopathies	Associate	26489029
Colorectal Neoplasms	Associate	36185995

RBM48 (RNA binding motif protein 48)