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Protein

Transmembrane protein 237

Gene

TMEM237

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the transition zone in primary cilia. Required for ciliogenesis.1 Publication

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • regulation of Wnt signaling pathway Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation

Protein family/group databases

MoonDBiQ96Q45 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 237
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein
Gene namesi
Name:TMEM237
Synonyms:ALS2CR4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000155755.18
HGNCiHGNC:14432 TMEM237
MIMi614423 gene
neXtProtiNX_Q96Q45

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei227 – 247HelicalSequence analysisAdd BLAST21
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Transmembranei358 – 378HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 14 (JBTS14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly.
See also OMIM:614424

Keywords - Diseasei

Ciliopathy, Joubert syndrome

Organism-specific databases

DisGeNETi65062
GeneReviewsiTMEM237
MalaCardsiTMEM237
MIMi614424 phenotype
OpenTargetsiENSG00000155755
Orphaneti475 Joubert syndrome
2318 Joubert syndrome with oculorenal defect
220497 Joubert syndrome with renal defect
PharmGKBiPA24745

Polymorphism and mutation databases

BioMutaiTMEM237
DMDMi378405209

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000761691 – 408Transmembrane protein 237Add BLAST408

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei25PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96Q45
MaxQBiQ96Q45
PaxDbiQ96Q45
PeptideAtlasiQ96Q45
PRIDEiQ96Q45
ProteomicsDBi77826
77827 [Q96Q45-2]
77828 [Q96Q45-3]
77829 [Q96Q45-4]
77830 [Q96Q45-5]

PTM databases

iPTMnetiQ96Q45
PhosphoSitePlusiQ96Q45

Expressioni

Gene expression databases

BgeeiENSG00000155755 Expressed in 186 organ(s), highest expression level in adrenal tissue
CleanExiHS_ALS2CR4
ExpressionAtlasiQ96Q45 baseline and differential
GenevisibleiQ96Q45 HS

Organism-specific databases

HPAiHPA052596
HPA054732

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex). Interacts with TMEM107.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
UNC93AQ86WB7-24EBI-10982110,EBI-13356252

Protein-protein interaction databases

BioGridi122382, 48 interactors
DIPiDIP-56376N
IntActiQ96Q45, 155 interactors
MINTiQ96Q45
STRINGi9606.ENSP00000386264

Structurei

3D structure databases

ProteinModelPortaliQ96Q45
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM237 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHCQ Eukaryota
ENOG41124J8 LUCA
GeneTreeiENSGT00390000005159
HOGENOMiHOG000033887
HOVERGENiHBG060391
InParanoidiQ96Q45
KOiK22765
OMAiTHCACAR
OrthoDBiEOG091G0UBR
TreeFamiTF329703

Family and domain databases

InterProiView protein in InterPro
IPR029409 TMEM237
PANTHERiPTHR28388 PTHR28388, 1 hit
PfamiView protein in Pfam
PF15383 TMEM237, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96Q45-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRTDSGARLE EGHLRPPRAL PPVPSQDDIP LSRPKKKKPR TKNTPASASL
60 70 80 90 100
EGLAQTAGRR PSEGNEPSTK ELKEHPEAPV QRRQKKTRLP LELETSSTQK
110 120 130 140 150
KSSSSSLLRN ENGIDAEPAE EAVIQKPRRK TKKTQPAELQ YANELGVEDE
160 170 180 190 200
DIITDEQTTV EQQSVFTAPT GISQPVGKVF VEKSRRFQAA DRSELIKTTE
210 220 230 240 250
NIDVSMDVKP SWTTRDVALT VHRAFRMIGL FSHGFLAGCA VWNIVVIYVL
260 270 280 290 300
AGDQLSNLSN LLQQYKTLAY PFQSLLYLLL ALSTISAFDR IDFAKISVAI
310 320 330 340 350
RNFLALDPTA LASFLYFTAL ILSLSQQMTS DRIHLYTPSS VNGSLWEAGI
360 370 380 390 400
EEQILQPWIV VNLVVALLVG LSWLFLSYRP GMDLSEELMF SSEVEEYPDK

EKEIKASS
Length:408
Mass (Da):45,526
Last modified:February 22, 2012 - v2
Checksum:i5FF78A331490D190
GO
Isoform 2 (identifier: Q96Q45-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MRTDSGARLEEGHL → MGKNPV

Show »
Length:400
Mass (Da):44,599
Checksum:iB1CFB9BF7823402D
GO
Isoform 3 (identifier: Q96Q45-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MRTDSGARLEEGHL → MTHCACARDRAREGWGARCLGARRPPRPAKRRMGKNPV

Show »
Length:432
Mass (Da):48,244
Checksum:i102BEFC17FEF823D
GO
Isoform 4 (identifier: Q96Q45-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-130: Missing.

Show »
Length:313
Mass (Da):35,017
Checksum:i0A2905B0D4DF85A4
GO
Isoform 5 (identifier: Q96Q45-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-132: K → KRPYYR

Show »
Length:413
Mass (Da):46,262
Checksum:iF99A2856335DC3A9
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWU1A0A087WWU1_HUMAN
Transmembrane protein 237
TMEM237
400Annotation score:
F2Z329F2Z329_HUMAN
Transmembrane protein 237
TMEM237
96Annotation score:
F8WE96F8WE96_HUMAN
Transmembrane protein 237
TMEM237
118Annotation score:

Sequence cautioni

The sequence AAY14694 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAY15056 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti20L → I in AAH29611 (PubMed:15489334).Curated1
Sequence conflicti118P → Q in AAH29611 (PubMed:15489334).Curated1
Sequence conflicti158T → A in BAG64880 (PubMed:14702039).Curated1
Sequence conflicti215R → I in AAH29611 (PubMed:15489334).Curated1
Sequence conflicti261L → I in AAH29611 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067019155D → A Found at heterozygosity in a patient with Bardet-Biedl syndrome also carrying BBS6 mutation A-57 in MKKS; hypomorphic variant. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0166281 – 14MRTDS…EEGHL → MGKNPV in isoform 2. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_0423811 – 14MRTDS…EEGHL → MTHCACARDRAREGWGARCL GARRPPRPAKRRMGKNPV in isoform 3. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_04238236 – 130Missing in isoform 4. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_042383132K → KRPYYR in isoform 5. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053301 mRNA Translation: BAB69011.1
AK090601 mRNA Translation: BAC03487.1
AK303954 mRNA Translation: BAG64880.1
AK304395 mRNA Translation: BAG65230.1
AC007279 Genomic DNA Translation: AAY15056.1 Sequence problems.
AC007282 Genomic DNA Translation: AAY14694.1 Sequence problems.
BC013730 mRNA Translation: AAH13730.1
BC029611 mRNA Translation: AAH29611.1
BX538000 mRNA Translation: CAD97955.1
CCDSiCCDS46489.1 [Q96Q45-1]
CCDS46490.1 [Q96Q45-2]
RefSeqiNP_001037850.1, NM_001044385.2 [Q96Q45-1]
NP_689601.2, NM_152388.3 [Q96Q45-2]
UniGeneiHs.12319

Genome annotation databases

EnsembliENST00000409444; ENSP00000387203; ENSG00000155755 [Q96Q45-2]
ENST00000409883; ENSP00000386264; ENSG00000155755 [Q96Q45-1]
GeneIDi65062
KEGGihsa:65062
UCSCiuc061rkx.1 human [Q96Q45-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053301 mRNA Translation: BAB69011.1
AK090601 mRNA Translation: BAC03487.1
AK303954 mRNA Translation: BAG64880.1
AK304395 mRNA Translation: BAG65230.1
AC007279 Genomic DNA Translation: AAY15056.1 Sequence problems.
AC007282 Genomic DNA Translation: AAY14694.1 Sequence problems.
BC013730 mRNA Translation: AAH13730.1
BC029611 mRNA Translation: AAH29611.1
BX538000 mRNA Translation: CAD97955.1
CCDSiCCDS46489.1 [Q96Q45-1]
CCDS46490.1 [Q96Q45-2]
RefSeqiNP_001037850.1, NM_001044385.2 [Q96Q45-1]
NP_689601.2, NM_152388.3 [Q96Q45-2]
UniGeneiHs.12319

3D structure databases

ProteinModelPortaliQ96Q45
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122382, 48 interactors
DIPiDIP-56376N
IntActiQ96Q45, 155 interactors
MINTiQ96Q45
STRINGi9606.ENSP00000386264

Protein family/group databases

MoonDBiQ96Q45 Predicted

PTM databases

iPTMnetiQ96Q45
PhosphoSitePlusiQ96Q45

Polymorphism and mutation databases

BioMutaiTMEM237
DMDMi378405209

Proteomic databases

EPDiQ96Q45
MaxQBiQ96Q45
PaxDbiQ96Q45
PeptideAtlasiQ96Q45
PRIDEiQ96Q45
ProteomicsDBi77826
77827 [Q96Q45-2]
77828 [Q96Q45-3]
77829 [Q96Q45-4]
77830 [Q96Q45-5]

Protocols and materials databases

DNASUi65062
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409444; ENSP00000387203; ENSG00000155755 [Q96Q45-2]
ENST00000409883; ENSP00000386264; ENSG00000155755 [Q96Q45-1]
GeneIDi65062
KEGGihsa:65062
UCSCiuc061rkx.1 human [Q96Q45-1]

Organism-specific databases

CTDi65062
DisGeNETi65062
EuPathDBiHostDB:ENSG00000155755.18
GeneCardsiTMEM237
GeneReviewsiTMEM237
HGNCiHGNC:14432 TMEM237
HPAiHPA052596
HPA054732
MalaCardsiTMEM237
MIMi614423 gene
614424 phenotype
neXtProtiNX_Q96Q45
OpenTargetsiENSG00000155755
Orphaneti475 Joubert syndrome
2318 Joubert syndrome with oculorenal defect
220497 Joubert syndrome with renal defect
PharmGKBiPA24745
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHCQ Eukaryota
ENOG41124J8 LUCA
GeneTreeiENSGT00390000005159
HOGENOMiHOG000033887
HOVERGENiHBG060391
InParanoidiQ96Q45
KOiK22765
OMAiTHCACAR
OrthoDBiEOG091G0UBR
TreeFamiTF329703

Miscellaneous databases

ChiTaRSiTMEM237 human
GenomeRNAii65062
PROiPR:Q96Q45
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155755 Expressed in 186 organ(s), highest expression level in adrenal tissue
CleanExiHS_ALS2CR4
ExpressionAtlasiQ96Q45 baseline and differential
GenevisibleiQ96Q45 HS

Family and domain databases

InterProiView protein in InterPro
IPR029409 TMEM237
PANTHERiPTHR28388 PTHR28388, 1 hit
PfamiView protein in Pfam
PF15383 TMEM237, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTM237_HUMAN
AccessioniPrimary (citable) accession number: Q96Q45
Secondary accession number(s): B4E1R8
, B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: February 22, 2012
Last modified: November 7, 2018
This is version 110 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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