RTTN - rotatin Gene

Also Known as MSSP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25914

About RTTN

Cytogenetic location: 18q22.2 Genomic coordinates (GRCh38): 18:70,003,031-70,205,687 (from NCBI)

This gene has 25 transcripts (splice variants), 220 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.7), ovary (RPKM 1.5) and 25 other tissues.

Summary

This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]

RTTN Products (2)

mRNA	Protein	Name
NM_001318520.2	NP_001305449.1	rotatin isoform 2
NM_173630.4	NP_775901.3	rotatin isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30168418	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	30168418	GOA
located in centrosome	IDA IDA: Inferred from direct assay	30168418	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	22939636	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

RTTN Protein Structure

RTTN_N

0
400
800
1200
1600
2000
2226 a.a.

Protein Preferred Names	Protein Names
rotatin

Related Diseases

Diseases	Alias
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria With Seizures MSSP Pmgys Microcephaly, Short Stature, And Polymicrogyria With Seizures Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Joubert Syndrome 17	JBTS17 Joubert Syndrome, Type 17
Polymicrogyria	Pmg
Brachydactyly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
Hypotonia
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation	Lymphedema, Microcephaly And Chorioretinopathy Syndrome Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability MCLMR Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome Mlcrd Syndrome Cdmmr Syndrome Lymphedema And Retinal Folds With Microcephaly And Microphthalmos Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome Microcephaly Lymphedema Chorioretinal Dysplasia Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant Lymphedema, Microcephaly, Chorioretinopathy Syndrome Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome Microcephaly-Lymphedema-Chorioretinopathy Syndrome Mlcrd Lymphedema Microcephaly Chorioretinopathy Syndrome Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcephaly 6, Primary, Autosomal Recessive	MCPH6 Primary Autosomal Recessive Microcephaly 6 Microcephaly, Primary Autosomal Recessive, 6 Microcephaly, Type 6, Primary, Autosomal Recessive
Microcephaly 14, Primary, Autosomal Recessive	MCPH14 Primary Autosomal Recessive Microcephaly 14 Microcephaly, Type 14, Primary, Autosomal Recessive
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Van Maldergem Syndrome	Van Maldergem Wetzburger Verloes Syndrome Cerebro-Facio-Articular Syndrome Cerebro-Facio-Articular Syndrome Of Van Maldergem Cerebrofacioarticular Syndrome Cerebro Facio Articular Syndrome Van Maldergem-Wetzburger-Verloes Syndrome
Bardet-Biedl Syndrome 1	BBS1 Bardet-Biedl Syndrome 1, Modifier Of Bardet-Biedl Syndrome BBS Bardet-Biedl Syndrome, Type 1 Laurence-Moon-Bardet-Biedl Syndrome
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
Microcephaly 5, Primary, Autosomal Recessive	MCPH5 Primary Autosomal Recessive Microcephaly 5 Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern Microcephaly, Primary Autosomal Recessive, 5
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Twin-To-Twin Transfusion Syndrome	Twin To Twin Transfusion Syndrome Twin Twin Transfusion Syndrome Fetal Blood Loss From Fetal Hemorrhage Into Co-Twin Fetal Hemorrhage Into Co-Twin Twin To Twin Transfusion Twin-To-Twin Blood Transfer Fetal Transfusion Syndrome Fetofetal Transfusion Syndrome Ttts Feto-Fetal Transfusion Syndrome Fetofetal Transfusion Fetus-To-Fetus Placental Transfusion Syndrome
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
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.	Product Name	Effect	Purity	Rare Diseases
HY-RS12342	RTTN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18498	Rttn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24980	Rttn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RTTN	VGNC	VGNC:64815
Bos taurus	RTTN	VGNC	VGNC:34211
Macaca mulatta	RTTN	VGNC	VGNC:84903
Canis familiaris	RTTN	VGNC	VGNC:45800
Mus musculus	RTTN	MGD	MGI:2179288
Rattus norvegicus	RTTN	RGD	RGD:1306706
Others	RTTN	NCBI