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  2. KIAA0753 - KIAA0753 Gene

KIAA0753 - KIAA0753 Gene

Homo sapiens

Also known as MNR; OFIP; JBTS38; SRTD21

Gene ID: 9851 | Gene type: protein coding

About KIAA0753

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:6,578,147-6,640,711 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 6.1), thyroid (RPKM 4.0) and 25 other tissues.

Summary

This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]

KIAA0753 Products(2)

mRNA Protein Name
NM_001351225.2 NP_001338154.1 protein moonraker isoform 2
NM_014804.3 NP_055619.2 protein moonraker isoform 1
Protein Preferred Names Protein Names

protein moonraker

OFD1 and FOPNL interacting protein

Related Diseases

Diseases Alias
Joubert Syndrome 38

JBTS38

Orofaciodigital Syndrome Xv

OFD15

Ofds Xv

Oral-Facial-Digital Syndrome, Type Xv

Orofaciodigital Syndrome 15

Oro-Facio-Digital Syndrome, Xv

Short-Rib Thoracic Dysplasia 21 Without Polydactyly

SRTD21

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy

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

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Orofaciodigital Syndrome

Oral-Facial-Digital Syndrome

Orofaciodigital Syndromes

Ofd

Oral Facial Digital Syndromes

Oral-Facial-Digital Syndromes

Dysplasia Linguofacialis

Ofds

Oro-Facio-Digital Syndrome

Orodigitofacial Dysostosis

Orodigitofacial Syndrome

Oral Facial Digital Syndrome

Orofaciodigital Syndrome I

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly

SRTD13

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia

Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25

Dee25

Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta

Early Infantile Epileptic Encephalopathy 25

Encephalopathy, Epileptic, Early Infantile, Type 25

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia

Spondylar And Nasal Alterations With Striated Metaphyses

SEMDSP

Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

Spondylar And Nasal Alterations-Striated Metaphyses Syndrome

Spondyloepimetaphyseal Dysplasia Sponastrime Type

Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia

Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation

Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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

Orthologs Information

Species Symbol Source ID
Felis catus KIAA0753 VGNC VGNC:63086
Rattus norvegicus KIAA0753 RGD RGD:1304728
Canis familiaris KIAA0753 VGNC VGNC:42350
Bos taurus KIAA0753 VGNC VGNC:30555
Mus musculus KIAA0753 MGD MGI:1921727
Macaca mulatta KIAA0753 VGNC VGNC:73929