EFTUD2 - elongation factor Tu GTP binding domain containing 2 Gene

Homo sapiens

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

Gene ID: 9343 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04203	EFTUD2 Human Pre-designed siRNA Set A		/	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

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