TMEM231 - transmembrane protein 231 Gene

Homo sapiens

Also known as MKS11; JBTS20; ALYE870; PRO1886

Gene ID: 79583 | Gene type: protein coding

About TMEM231

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,536,741-75,556,286 (from NCBI)

This gene has 22 transcripts (splice variants), 201 orthologues and is associated with 6 phenotypes. Broad expression in testis (RPKM 8.7), thyroid (RPKM 6.9) and 24 other tissues.

Summary

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

TMEM231 Products(2)

mRNA	Protein	Name
NM_001077416.2	NP_001070884.2	transmembrane protein 231 isoform 1
NM_001077418.3	NP_001070886.1	transmembrane protein 231 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

TMEM231 Protein Structure

TM231

0
100
200
316 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 231

Related Diseases

Diseases

Alias

Joubert Syndrome 20

JBTS20

Joubert Syndrome, Type 20

Meckel Syndrome, Type 11

MKS11

Meckel Syndrome 11

Ciliopathy

Orofaciodigital Syndrome Iii

Sugarman Syndrome	OFD3
Orofaciodigital Syndrome 3	Ofds Iii
Oral Facial Digital Syndrome Type 3	Oral-Facial-Digital Syndrome Type 3
Oral-Facial-Digital Syndrome, Type Iii	Ofd Syndrome 3
Ofds 3	Oral Facial Digital Syndrome 3
Orofaciodigital Syndrome Type 3

Arima Syndrome

Dekaban-Arima Syndrome	Joubert Syndrome With Bilateral Chorioretinal Coloboma
Cors	Cerebello-Oculo-Renal Syndrome
Cerebellooculorenal Syndrome	Js Type B
Js-Or	Joubert Syndrome 5
Joubert Syndrome With Senior-Loken Syndrome	Joubert Syndrome With Oculorenal Defect
Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia	Cerebrooculohepatorenal Syndrome
Joubert Syndrome With Oculorenal Anomalies	Cerebro-Oculo-Hepato-Renal Syndrome
Chorioretinal Coloboma With Cerebellar Vermis Aplasia	Dekaban Arima Syndrome
Cor	Bj
Familial Aplasia Of The Vermis

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

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

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Joubert Syndrome 24

JBTS24

Meckel Syndrome, Type 5

Meckel Syndrome 5	MKS5
Meckel-Gruber Syndrome, Type 5

Joubert Syndrome 14

JBTS14

Joubert Syndrome, Type 14

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

Encephalocele

Cephalocele	Craniocele
Bifid Cranium	Cranium Bifidum
Encephaloceles

Meckel Syndrome, Type 2

MKS2	Meckel Syndrome 2
Meckel-Gruber Syndrome, Type 2	Meckel Syndrome Type 2

Meckel Syndrome, Type 4

Meckel Syndrome 4	MKS4
Meckel-Gruber Syndrome, Type 4	Meckel Syndrome Type 4

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

Bardet-Biedl Syndrome 15

BBS15

Bardet-Biedl Syndrome, Type 15

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 6

Meckel Syndrome 6	MKS6
Meckel-Gruber Syndrome, Type 6

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

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

Bardet-Biedl Syndrome 3

BBS3	Bardet-Biedl Syndrome, Type 3

Joubert Syndrome 3

JBTS3	Joubert Syndrome With Ocular Defect
Joubert Syndrome With Ocular Anomalies	Js-O
Joubert Syndrome With Retinopathy	Joubert Syndrome-3
Joubert Syndrome, Type 3

Epithelial Recurrent Erosion Dystrophy

ERED	Corneal Erosions, Recurring Hereditary
Col17a1	Dystrophia Helsinglandica
Dystrophia Smolandiensis	Recurrent Hereditary Corneal Erosions
Rces	Recurrent Corneal Erosion Syndrome
Recurrent Erosion Of Cornea

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64	Retinal Dystrophy With Early Macular Involvement
CORD16	RP64

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

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

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

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

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

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

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

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-RS14703	TMEM231 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMEM231	MGD	MGI:2685024
Canis familiaris	TMEM231	VGNC	VGNC:59035
Bos taurus	TMEM231	VGNC	VGNC:52257
Rattus norvegicus	TMEM231	RGD	RGD:1306153
Macaca mulatta	TMEM231	VGNC	VGNC:99621
Felis catus	TMEM231	VGNC	VGNC:97663