1. Gene
  2. TCTN3 - tectonic family member 3 Gene

TCTN3 - tectonic family member 3 Gene

Homo sapiens

Also known as OFD4; TECT3; JBTS18; C10orf61

Gene ID: 26123 | Gene type: protein coding

About TCTN3

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:95,663,401-95,693,927 (from NCBI)

This gene has 19 transcripts (splice variants), 180 orthologues, 2 paralogues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 49.4), ovary (RPKM 15.6) and 25 other tissues.

Summary

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

TCTN3 Products(3)

mRNA Protein Name
NM_001143973.2 NP_001137445.1 tectonic-3 isoform b precursor
NM_001410982.1 NP_001397911.1 tectonic-3 isoform c precursor
NM_015631.6 NP_056446.4 tectonic-3 isoform a precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
17464193 GOA
involved in smoothened signaling pathway IMP
IMP: Inferred from mutant phenotype
22883145 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
17464193 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

TCTN3 Protein Structure

DUF1619

DUF1619: Protein of unknown function (DUF1619) (90 - 390)

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  • 607 a.a.
Protein Preferred Names Protein Names

tectonic-3

Related Diseases

Diseases Alias
Joubert Syndrome 18

JBTS18

Joubert Syndrome, Type 18

Orofaciodigital Syndrome Iv

OFD4

Baraitser-Burn Syndrome

Orofaciodigital Syndrome 4

Ofd Syndrome With Tibial Defects

Mohr-Majewski Syndrome

Ofds Iv

Oral-Facial-Digital Syndrome, Type Iv

Ofd Syndrome, Baraitser-Burn Type

Oral-Facial-Digital Syndrome Type 4

Ofd Syndrome 4

Ofds 4

Oral Facial Digital Syndrome 4

Oral Facial Digital Syndrome Type 4

Orofaciodigital Syndrome With Tibial Dysplasia

Orofaciodigital Syndrome Type 4

Ofd Syndrome Baraitser-Burn Type

Oral-Facial-Digital Syndrome 4

Orofaciodigital Syndrome, Type Iv

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

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

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

Orofacial Cleft 8

OFC8

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 8

Non-Syndromic Cleft Lip/Palate 8

Non-Syndromic Cleft Lip With Or Without Cleft Palate 8

Orofacial Cleft, Type 8

Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Occipital Encephalocele
Orofaciodigital Syndrome V

OFD5

Thurston Syndrome

Orofaciodigital Syndrome 5

Polydactyly, Postaxial, With Median Cleft Of Upper Lip

Ofds V

Oral-Facial-Digital Syndrome, Type V

Orofaciodigital Syndrome, Thurston Type

Orofaciodigital Syndrome Thurston Type

Oral-Facial-Digital Syndrome 5

Polydactyly Postaxial With Median Cleft Of Upper Lip

Ofd Syndrome 5

Ofds 5

Oral Facial Digital Syndrome 5

Oral Facial Digital Syndrome Type 5

Orofaciodigital Syndrome Type 5

Oral-Facial-Digital Syndrome Type 5

Papillon-Leage And Psaume Syndrome

Orofaciodigital Syndrome, Type V

Apraxia

Apraxias

Dyspraxia

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Joubert Syndrome 16

JBTS16

Joubert Syndrome, Type 16

Acrocallosal Syndrome

ACLS

Schinzel Acrocallosal Syndrome

Joubert Syndrome 12

Schinzel Syndrome 1

Acrocallosal Syndrome, Schinzel Type

Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum

Acs

Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly

Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum

JBTS12

Acrocallosal Syndrome

Coach Syndrome 1

Coach Syndrome

Joubert Syndrome With Congenital Hepatic Fibrosis

Gentile Syndrome

Joubert Syndrome With Hepatic Defect

Js-H

COACH1

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis

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

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

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

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

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

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
Mus musculus TCTN3 MGD MGI:1914840
Macaca mulatta TCTN3 VGNC VGNC:79438
Bos taurus TCTN3 VGNC VGNC:35710
Rattus norvegicus TCTN3 RGD RGD:1305166
Canis familiaris TCTN3 VGNC VGNC:47215
Felis catus TCTN3 VGNC VGNC:66042