SMG9 - SMG9 nonsense mediated mRNA decay factor Gene

Homo sapiens

Also known as HBMS; NEDITPO; C19orf61; F17127_1

Gene ID: 56006 | Gene type: protein coding

About SMG9

Cytogenetic location: 19q13.31 Genomic coordinates (GRCh38): 19:43,727,983-43,754,962 (from NCBI)

This gene has 13 transcripts (splice variants), 187 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 13.7), lymph node (RPKM 6.7) and 24 other tissues.

Summary

This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and Other features. [provided by RefSeq, Jul 2016]

SMG9 Products(1)

mRNA	Protein	Name
NM_019108.4	NP_061981.2	nonsense-mediated mRNA decay factor SMG9

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	20817927	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19417104	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of apoptotic process	EXP EXP: Inferred from Experiment	20817927	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	19417104	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMG9 Protein Structure

Smg8_Smg9

0
100
200
300
400
520 a.a.

Protein Preferred Names

Protein Names

nonsense-mediated mRNA decay factor SMG9

protein smg-9 homolog

SMG9 Protein-protein interaction Information

Type Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMG9	Q9H0W8	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	SMG9	Q9H0W8	NFKBID	Homo sapiens	Q8NI38	Y2H Array	32296183
Intra	SMG9	Q9H0W8	NFKBID	Homo sapiens	Q8NI38	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	SMG9	Q9H0W8	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	SMG9	Q9H0W8	CCDC57	Homo sapiens	Q2TAC2-2	Y2H Array	32296183
Intra	SMG9	Q9H0W8	CCDC57	Homo sapiens	Q2TAC2-2	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	PNMA3	Homo sapiens	Q9UL41	Y2H Array	32296183
Intra	SMG9	Q9H0W8	PNMA3	Homo sapiens	Q9UL41	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	PNMA3	Homo sapiens	Q9UL41	Validated Y2H	32296183
Intra	SMG9	Q9H0W8	MTUS2	Homo sapiens	Q5JR59-3	Y2H Array	32296183
Intra	SMG9	Q9H0W8	MTUS2	Homo sapiens	Q5JR59-3	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Array	32296183
Intra	SMG9	Q9H0W8	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	CTAG1A	Homo sapiens	P78358	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	CTAG1A	Homo sapiens	P78358	Y2H Array	32296183
Intra	SMG9	Q9H0W8	ZMYND12	Homo sapiens	Q9H0C1	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	ZMYND12	Homo sapiens	Q9H0C1	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TSC1	Homo sapiens	Q86WV8	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TSC1	Homo sapiens	Q86WV8	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Array	32296183
Intra	SMG9	Q9H0W8	GSG1	Homo sapiens	Q2KHT4-3	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	GSG1	Homo sapiens	Q2KHT4-3	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TCF4	Homo sapiens	P15884-3	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TCF4	Homo sapiens	P15884-3	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	CMTM4	Homo sapiens	Q8IZR5-2	Y2H Array	32296183
Intra	SMG9	Q9H0W8	CMTM4	Homo sapiens	Q8IZR5-2	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	PPP2R3C	Homo sapiens	Q969Q6	Y2H Array	32296183
Intra	SMG9	Q9H0W8	PPP2R3C	Homo sapiens	Q969Q6	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	PRKAR1B	Homo sapiens	P31321	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	PRKAR1B	Homo sapiens	P31321	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
Intra	SMG9	Q9H0W8	SMG1	Homo sapiens	Q96Q15	Anti Bait CoIP	19417104
Intra	SMG9	Q9H0W8	SMG1	Homo sapiens	Q96Q15	Anti Tag CoIP	26496610
Intra	SMG9	Q9H0W8	TRIM23	Homo sapiens	P36406	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	25416956
Intra	SMG9	Q9H0W8	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	TRIM23	Homo sapiens	P36406	Y2H Array	25416956
Intra	SMG9	Q9H0W8	TRAF2	Homo sapiens	Q12933	Validated Y2H	25416956
Intra	SMG9	Q9H0W8	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	TRIM23	Homo sapiens	P36406	Y2H Array	32296183
Intra	SMG9	Q9H0W8	KRT31	Homo sapiens	Q15323	Y2H Array	25416956
Intra	SMG9	Q9H0W8	TRAF2	Homo sapiens	Q12933	Y2H Array	25416956
Intra	SMG9	Q9H0W8	SMG1	Homo sapiens	Q96Q15	Pull Down	20817927
Intra	SMG9	Q9H0W8	PFDN5	Homo sapiens	Q99471	Y2H Array	32296183
Intra	SMG9	Q9H0W8	PFDN5	Homo sapiens	Q99471	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	SMG8	Homo sapiens	Q8ND04	Anti Bait CoIP	19417104
Intra	SMG9	Q9H0W8	SMG8	Homo sapiens	Q8ND04	Pull Down	20817927
Intra	SMG9	Q9H0W8	SMG8	Homo sapiens	Q8ND04	Anti Tag CoIP	26496610
Intra	SMG9	Q9H0W8	SLC17A9	Homo sapiens	Q9BYT1	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	SLC17A9	Homo sapiens	Q9BYT1	Y2H Array	32296183
Intra	SMG9	Q9H0W8	PHF1	Homo sapiens	O43189	Y2H Array	32296183
Intra	SMG9	Q9H0W8	PHF1	Homo sapiens	O43189	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	FNTB	Homo sapiens	P49356	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	FNTB	Homo sapiens	P49356	Y2H Array	32296183
Intra	SMG9	Q9H0W8	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	SMG9	Q9H0W8	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	ZNF655	Homo sapiens	Q8N720	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	ZNF655	Homo sapiens	Q8N720	Y2H Array	32296183
Intra	SMG9	Q9H0W8	ARFIP2	Homo sapiens	P53365	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	ARFIP2	Homo sapiens	P53365	Y2H Array	32296183
Intra	SMG9	Q9H0W8	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	SMG9	Q9H0W8	RASSF10	Homo sapiens	A6NK89	Y2H Array	32296183
Intra	SMG9	Q9H0W8	RASSF10	Homo sapiens	A6NK89	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	SMG9	Q9H0W8	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	TRIM27	Homo sapiens	P14373	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TRIP6	Homo sapiens	Q15654	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	TRIP6	Homo sapiens	Q15654	Y2H Array	32296183
Intra	SMG9	Q9H0W8	CEP76	Homo sapiens	Q8TAP6	Y2H Array	32296183
Intra	SMG9	Q9H0W8	CEP76	Homo sapiens	Q8TAP6	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	AK8	Homo sapiens	Q96MA6	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	AK8	Homo sapiens	Q96MA6	Y2H Array	32296183
Intra	SMG9	Q9H0W8	SLC50A1	Homo sapiens	Q9BRV3	Y2H Array	32296183
Intra	SMG9	Q9H0W8	SLC50A1	Homo sapiens	Q9BRV3	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	SYP	Homo sapiens	P08247	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	SYP	Homo sapiens	P08247	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TTC19	Homo sapiens	Q6DKK2	Y2H Array	32296183
Intra	SMG9	Q9H0W8	TTC19	Homo sapiens	Q6DKK2	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	PLEKHG4	Homo sapiens	Q58EX7	Y2H Prey Pooling	32296183
Intra	SMG9	Q9H0W8	PLEKHG4	Homo sapiens	Q58EX7	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Heart And Brain Malformation Syndrome

HBMS	Neurodevelopmental Disorder With Heart And Brain Malformations
Nedhbm	Malformation, Heart And Brain, Syndrome

Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies

NEDITPO

Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas

Metaphyseal Chondrodysplasia, Schmid Type

MCDS	Schmid Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasia Schmid Type	Spondylometaphyseal Dysplasia, Japanese Type
Japanese Type Spondylometaphyseal Dysplasia	Schmid Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia Type Schmid	Schmid Type Metaphyseal Chondrodysplasia
SMCD	Chondrodysplasia, Metaphyseal, Schmid Type
Corneal Dystrophy, Subepithelial Mucinous

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS13435	SMG9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SMG9	VGNC	VGNC:46558
Mus musculus	SMG9	MGD	MGI:1919247
Bos taurus	SMG9	VGNC	VGNC:35013
Rattus norvegicus	SMG9	RGD	RGD:1309888
Felis catus	SMG9	VGNC	VGNC:65490
Macaca mulatta	SMG9	VGNC	VGNC:77775

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