EFTUD2 - elongation factor Tu GTP binding domain containing 2 Gene

Also Known as MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9343

About EFTUD2

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,849,948-44,899,445 (from NCBI)

This gene has 26 transcripts (splice variants), 212 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 15.7), appendix (RPKM 15.5) and 25 other tissues.

Summary

This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

EFTUD2 Products (4)

mRNA	Protein	Name
NM_001142605.2	NP_001136077.1	116 kDa U5 small nuclear ribonucleoprotein component isoform b
NM_001258353.2	NP_001245282.1	116 kDa U5 small nuclear ribonucleoprotein component isoform a
NM_001258354.2	NP_001245283.1	116 kDa U5 small nuclear ribonucleoprotein component isoform c
NM_004247.4	NP_004238.3	116 kDa U5 small nuclear ribonucleoprotein component isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9774689	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in Cajal body	IDA IDA: Inferred from direct assay	15257298	GOA
part of U2-type catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	29361316	GOA
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	23793891	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	15257298	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28076346	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

EFTUD2 Protein Structure

GTP_EFTU

GTP_EFTU_D2

EFG_II

EFG_IV

EFG_C

0
200
400
600
800
972 a.a.

Protein Preferred Names	Protein Names
116 kDa U5 small nuclear ribonucleoprotein component	SNU114 homolog

EFTUD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	EFTUD2	Q15029	SNRNP200	Homo sapiens	O75643	Anti Tag CoIP	33961781
Intra	EFTUD2	Q15029	SNRNP200	Homo sapiens	O75643	Anti Tag CoIP	35271311
Intra	EFTUD2	Q15029	SNRNP200	Homo sapiens	O75643	Y2H	16723661
Intra	EFTUD2	Q15029	SF3A2	Homo sapiens	Q15428	Affinity Chrom	17332742
Intra	EFTUD2	Q15029	SF3B4	Homo sapiens	Q15427	Anti Tag CoIP	22365833
Intra	EFTUD2	Q15029	SF3B4	Homo sapiens	Q15427	Y2H	22365833
Intra	EFTUD2	Q15029	MYC	Homo sapiens	P01106	Density Sedimentation	17314511
Intra	EFTUD2	Q15029	PRPF6	Homo sapiens	O94906	Anti Tag CoIP	35271311
Intra	EFTUD2	Q15029	PRPF6	Homo sapiens	O94906	Anti Tag CoIP	33961781
Intra	EFTUD2	Q15029	PRPF6	Homo sapiens	O94906	Y2H	16723661
Intra	EFTUD2	Q15029	PRPF8	Homo sapiens	Q6P2Q9	Anti Tag CoIP	35271311
Intra	EFTUD2	Q15029	PRPF8	Homo sapiens	Q6P2Q9	Y2H	16723661
Intra	EFTUD2	Q15029	PRPF8	Homo sapiens	Q6P2Q9	Anti Tag CoIP	33961781
Intra	EFTUD2	Q15029	SNRNP40	Homo sapiens	Q96DI7	Anti Bait CoIP	9774689
Intra	EFTUD2	Q15029	SNRNP40	Homo sapiens	Q96DI7	Anti Tag CoIP	33961781
Intra	EFTUD2	Q15029	SNRNP40	Homo sapiens	Q96DI7	Anti Tag CoIP	35271311
Intra	EFTUD2	Q15029	IK	Homo sapiens	Q13123	Y2H	22365833
Intra	EFTUD2	Q15029	IK	Homo sapiens	Q13123	Anti Tag CoIP	22365833

Cross: Cross-species interaction Intra: Intraspecies interaction

EFTUD2 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P85846	Snrp116 Antibody (YA5538)	WB, ICC/IF, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Mandibulofacial Dysostosis, Guion-Almeida Type	Mandibulofacial Dysostosis With Microcephaly Mandibulofacial Dysostosis-Microcephaly Syndrome MFDGA MFDM Mfdm Syndrome Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome Dysostosis, Mandibulofacial, Guion-Almeida Type
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal Atresia With Or Without Tracheoesophageal Fistula Esophageal Atresia
Dysostosis	Dysostoses
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Armfield Syndrome	X-Linked Intellectual Disability, Armfield Type Armfield X-Linked Mental Retardation Syndrome Mental Retardation Syndrome, X-Linked, Armfield Type Mrxsa Syndromic X-Linked Mental Retardation Armfield Type
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Burn-Mckeown Syndrome	Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome Oculootofacial Dysplasia BMKS Oofd Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome Choanal Atresia Deafness Cardiac Defects Dysmorphism Oculo-Oto-Facial Dysplasia
Retinitis Pigmentosa 57	RP57 Pde6g-Related Retinitis Pigmentosa Retinitis Pigmentosa, Type 57
Acrofacial Dysostosis
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Craniofacial Microsomia	Goldenhar Syndrome Hemifacial Microsomia Oculoauriculovertebral Spectrum Oavs Oculo-Auriculo-Vertebral Spectrum CFM Oav Dysplasia Facioauriculovertebral Sequence Fav Sequence First And Second Branchial Arch Syndrome Otomandibular Dysostosis Hfm Oculoauriculovertebral Dysplasia Facio-Auriculo-Vertebral Spectrum Facioauriculovertebral Dysplasia Oculo-Auriculo-Vertebral Dysplasia First Arch Syndrome Oav Dysplasia Goldenhar Disease Expanded Spectrum Hemifacial Microsomia Expanded Spectrum Of Hemifacial Microsomia Oculoauriculovertebral Syndrome Oavd Asymmetric Hypoplasia Of Facial Structures Auriculobranchiogenic Dysplasia Fav First And Second Pharyngeal Arch Syndromes Goldenhar-Gorlin Syndrome Lateral Facial Dysplasia Oav Complex Oral-Mandibular-Auricular Syndrome Unilateral Intrauterine Facial Necrosis Unilateral Mandibulofacial Dysostosis Oav Spectrum Oculoauricular Vertebral Dysplasia Microsomia, Hemifacial Goldenhar Syndrome With Ipsilateral Radial Defect
Retinitis Pigmentosa 13	RP13 Retinitis Pigmentosa-13 Retinitis Pigmentosa, Type 13
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 5 SRTD5 Atd5 Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 5
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Retinitis Pigmentosa 33	RP33 Retinitis Pigmentosa, Type 33
Cerebrocostomandibular Syndrome	Cerebro-Costo-Mandibular Syndrome CCMS Rib Gap Defects With Micrognathia Ccm Syndrome
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Glutathione Synthetase Deficiency	5-Oxoprolinuria Pyroglutamic Aciduria Pyroglutamicaciduria Glutathione Synthetase Deficiency With 5-Oxoprolinuria GSSD Oxoprolinase Deficiency 5-Oxoprolinemia Deficiency Of Glutathione Synthase Deficiency Of Glutathione Synthetase Pyroglutamic Acidemia GSS DEFICIENCY Gluthathione Synthetase Deficiency 5-Oxoprolinase Deficiency
Tarp Syndrome	TARPS Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava Pierre Robin Sequence - Congenital Heart Defect - Talipes Pierre Robin Syndrome - Congenital Heart Defect - Talipes Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Orofacial Cleft	Cleft, Orofacial
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS04203	EFTUD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21120	Eftud2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27639	Eftud2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EFTUD2	VGNC	VGNC:40234
Mus musculus	EFTUD2	MGD	MGI:1336880
Macaca mulatta	EFTUD2	VGNC	VGNC:72149
Felis catus	EFTUD2	VGNC	VGNC:61754
Bos taurus	EFTUD2	VGNC	VGNC:28364
Rattus norvegicus	EFTUD2	RGD	RGD:1560116
Others	EFTUD2	NCBI