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.	8241
Gene name Gene Name - the full gene name approved by the HGNC.	RNA binding motif protein 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RBM10
Synonyms (NCBI Gene) Gene synonyms aliases	DXS8237E, GPATC9, GPATCH9, MINAS-60, S1-1, TARPS, ZRANB5
Disease Acronyms (UniProt) Disease acronyms from UniProt database	TARPS
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149109733	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267607000	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041461	AT>-	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886041742	->T	Pathogenic	Splice donor variant
rs886044715	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886044718	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1064795088	A>-	Likely-pathogenic	Intron variant
rs1131690789	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691421	TGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556770954	C>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1556778986	G>A	Pathogenic	Splice acceptor variant
rs1556779417	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556782770	A>G	Likely-pathogenic	Splice acceptor variant
rs1602556716	GAGG>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, frameshift variant
rs1602582207	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1602582334	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049482	hsa-miR-92a-3p	qRT-PCR	23622248
MIRT050535	hsa-miR-20a-5p	CLASH	23622248
MIRT049482	hsa-miR-92a-3p	CLASH	23622248
MIRT046742	hsa-miR-222-3p	CLASH	23622248
MIRT045311	hsa-miR-186-5p	CLASH	23622248
MIRT042904	hsa-miR-324-3p	CLASH	23622248
MIRT040646	hsa-miR-92b-3p	CLASH	23622248
MIRT039700	hsa-miR-615-3p	CLASH	23622248
MIRT039700	hsa-miR-615-3p	CLASH	23622248
MIRT039700	hsa-miR-615-3p	CLASH	23622248
MIRT036471	hsa-miR-1226-3p	CLASH	23622248
MIRT1294517	hsa-miR-4700-3p	CLIP-seq
MIRT1294518	hsa-miR-520d-5p	CLIP-seq
MIRT1294519	hsa-miR-524-5p	CLIP-seq
MIRT1294520	hsa-miR-556-3p	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IBA	21873635
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 26871637, 29021621, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	28091594
GO:0008150	Process	Biological_process	ND
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0032991	Component	Protein-containing complex	IPI	17707232
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	IEA
GO:0035198	Function	MiRNA binding	IDA	28431233
GO:0042802	Function	Identical protein binding	IPI	22365833
GO:0046872	Function	Metal ion binding	IEA
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IEA
GO:0070935	Process	3'-UTR-mediated mRNA stabilization	IEA

MIM	HGNC	e!Ensembl
300080	9896	ENSG00000182872

Protein

UniProt ID

P98175

Protein name

RNA-binding protein 10 (G patch domain-containing protein 9) (RNA-binding motif protein 10) (RNA-binding protein S1-1) (S1-1)

Protein function

Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). May be involved in post-transcriptional processing, most probably in mRNA splicing (PubMed:18315527). Binds to RNA homopolymers, with a preference for poly(G) and p

PDB

2LXI , 2M2B , 2MXV , 2MXW , 5ZSW , 5ZSY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	131 → 202	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00641	zf-RanBP	214 → 242	Zn-finger in Ran binding protein and others	Domain
PF17780	OCRE	568 → 619	OCRE domain	Domain
PF01585	G-patch	858 → 902	G-patch domain	Family

Sequence

MEYERRGGRGDRTGRYGATDRSQDDGGENRSRDHDYRDMDYRSYPREYGSQEGKHDYDDS
SEEQSAEDSYEASPGSETQRRRRRRHRHSPTGPPGFPRDGDYRDQDYRTEQGEEEEEEED
EEEEEKASNIVMLRMLPQAATEDDIRGQLQSHGVQAREVRLMRNKSSGQSRGFAFVEFSH
LQDATRWMEANQHSLNILGQKVSMHYSDPKPKINEDWLCNKCGVQNFKRREKCFKCGVPK
SEAEQKLPLGTRLDQQTLPLGGRELSQGLLPLPQPYQAQGVLASQALSQGSEPSSENAND
TIILRNLNPHSTMDSILGALAPYAVLSSSNVRVIKDKQTQLNRGFAFIQLSTIVEAAQLL
QILQALHPPLTIDGKTINVEFAKGSKRDMASNEGSRISAASVASTAIAAAQWAISQASQG
GEGTWATSEEPPVDYSYYQQDEGYGNSQGTESSLYAHGYLKGTKGPGITGTKGDPTGAGP
EASLEPGADSVSMQAFSRAQPGAAPGIYQQSAEASSSQGTAANSQSYTIMSPAVLKSELQ
SPTHPSSALPPATSPTAQESYSQYPVPDVSTYQYDETSGYYYDPQTGLYYDPNSQYYYNA
QSQQYLYWDGERRTYVPALEQSADGHKETGAPSKEGKEKKEKHKTKTAQQIAKDMERWAR
SLNKQKENFKNSFQPISSLRDDERRESATADAGYAILEKKGALAERQHTSMDLPKLASDD
RPSPPRGLVAAYSGESDSEEEQERGGPEREEKLTDWQKLACLLCRRQFPSKEALIRHQQL
SGLHKQNLEIHRRAHLSENELEALEKNDMEQMKYRDRAAERREKYGIPEPPEPKRRKYGG
ISTASVDFEQPTRDGLGSDNIGSRMLQAMGWKEGSGLGRKKQGIVTPIEAQTRVRGSGLG
ARGSSYGVTSTESYKETLHKTMVTRFNEAQ

Sequence length

930

UniProt ID

P0DW28

Protein name

Ribosome biogenesis inhibitor MINAS-60 (MINAS-60)

Protein function

Acts as a late-stage inhibitor of pre-60S ribosome assembly by preventing pre-60S ribosome export from nucleus.

Family and domains

Interactions

View interactions

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	28577551, 5410571, 24259342, 20451169, 21910224, 24530524
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Pierre-robin syndrome	Pierre Robin Syndrome	rs1057519389, rs1057518986
Polydactyly	Polydactyly, POLYDACTYLY, POSTAXIAL	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)	24259342
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tarp syndrome	TARP syndrome	rs886044715, rs267607000, rs886044718, rs1556770954, rs1556778986, rs1602582334, rs1935843757	21910224, 20451169, 5410571, 24259342
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	22980975, 25079552, 28091594, 28586478, 31699841, 33064970, 38032932
Adenocarcinoma of Lung	Stimulate	30483773
Autistic Disorder	Associate	36944446
Breast Neoplasms	Associate	18820371
Carcinogenesis	Associate	31820547, 38032932
Carcinoma Hepatocellular	Associate	32572914
Carcinoma Non Small Cell Lung	Associate	33407425, 33629637
Carcinoma Pancreatic Ductal	Associate	25855536
Carcinoma Renal Cell	Associate	28296677, 32251007, 33854184, 35231161
Clubfoot	Associate	24259342, 28577551, 36944446
Colorectal Neoplasms	Inhibit	37146911
Congenital Abnormalities	Associate	24000153
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	24000153
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	33468217
Endometrial Neoplasms	Associate	31587503
Esotropia	Associate	30462380
Genetic Diseases X Linked	Associate	28577551
Heart Septal Defects Atrial	Associate	24259342, 28577551, 36944446
Intellectual Disability	Associate	21910224
Klatskin Tumor	Associate	35650238
Lung Neoplasms	Associate	25889998, 28662214, 33407425, 34887263, 35579943, 38032932
Lung Neoplasms	Inhibit	38032932
Lymphatic Metastasis	Associate	32572914
Melanoma	Associate	26751795
Multiple Sclerosis	Associate	35905688
Muscular Atrophy	Associate	28728573
Neoplasms	Associate	28091594, 28634282, 28728573, 30483773, 31820547, 32295706, 34887263, 35579943, 35618790, 38032932
Neoplasms	Inhibit	28662214, 30403180, 31587503, 32572914, 37146911
Nerve Degeneration	Associate	37991381
Optic Atrophy	Associate	21910224
Osteosarcoma	Inhibit	30403180
Persistent Left Superior Vena Cava	Associate	24259342, 36944446
Pierre Robin Syndrome	Associate	24259342, 36944446
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	39207003
Small Cell Lung Carcinoma	Associate	28662214
Superior Vena Cava Syndrome	Associate	28577551
TARP syndrome	Associate	21910224, 24000153, 24259342, 25889998, 28577551, 28586478, 30462380, 33468217, 34031074, 36421828, 36944446
Thyroid Neoplasms	Associate	28634282
Thyroid Nodule	Associate	31699841
Vision Disorders	Associate	21910224

RBM10 (RNA binding motif protein 10)