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Entry version 120 (22 Apr 2020)
Sequence version 2 (22 Feb 2012)
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Protein

Transmembrane protein 237

Gene

TMEM237

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
Q96Q45 Predicted

Transport Classification Database

More...
TCDBi
8.A.121.1.1 the transmembrane protein 237 (tmem237) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transmembrane protein 237
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMEM237
Synonyms:ALS2CR4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14432 TMEM237

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614423 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96Q45

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei227 – 247HelicalSequence analysisAdd BLAST21
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Transmembranei358 – 378HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell projection, Cilium, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM

Keywords - Diseasei

Ciliopathy, Joubert syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
65062

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TMEM237

MalaCards human disease database

More...
MalaCardsi
TMEM237
MIMi614424 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000155755

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
475 Joubert syndrome
2318 Joubert syndrome with oculorenal defect
220497 Joubert syndrome with renal defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24745

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96Q45 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMEM237

Domain mapping of disease mutations (DMDM)

More...
DMDMi
378405209

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000761691 – 408Transmembrane protein 237Add BLAST408

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei25PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96Q45

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96Q45

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96Q45

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96Q45

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96Q45

PeptideAtlas

More...
PeptideAtlasi
Q96Q45

PRoteomics IDEntifications database

More...
PRIDEi
Q96Q45

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77826 [Q96Q45-1]
77827 [Q96Q45-2]
77828 [Q96Q45-3]
77829 [Q96Q45-4]
77830 [Q96Q45-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96Q45

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96Q45

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000155755 Expressed in adrenal tissue and 185 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96Q45 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96Q45 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000155755 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the tectonic-like complex (also named B9 complex).

Interacts with TMEM107.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Isoform 2 [Q96Q45-2]
With#Exp.IntAct
Q96FB23EBI-10982110,EBI-2857623
ABHD16A [O95870]5EBI-10982110,EBI-348517
ADAM33 [Q08AM2]3EBI-10982110,EBI-10225815
ADIPOQ [Q15848]3EBI-10982110,EBI-10827839
APOD [P05090]5EBI-10982110,EBI-715495
APOL3 - isoform 2 [O95236-2]3EBI-10982110,EBI-11976321
AQP1 [P29972]3EBI-10982110,EBI-745213
ATP13A1 - isoform C [Q9HD20-3]3EBI-10982110,EBI-12069500
BET1 [O15155]3EBI-10982110,EBI-749204
BLCAP [P62952]3EBI-10982110,EBI-3895726
BNIP2 [Q12982]3EBI-10982110,EBI-752094
BTN2A2 [Q8WVV5]5EBI-10982110,EBI-8648738
C16orf58 [Q96GQ5]3EBI-10982110,EBI-8636004
C4orf3 - isoform 2 [Q8WVX3-2]3EBI-10982110,EBI-12003442
CBLIF [P27352]3EBI-10982110,EBI-3953638
CCDC167 [Q9P0B6]3EBI-10982110,EBI-9083477
CD53 [P19397]3EBI-10982110,EBI-6657396
CDS1 [Q92903]3EBI-10982110,EBI-13295305
CFHR5 [Q9BXR6]3EBI-10982110,EBI-11579371
CLDN4 [O14493]3EBI-10982110,EBI-9316372
CLN6 [Q9NWW5]3EBI-10982110,EBI-6165897
CNIH3 [Q8TBE1]3EBI-10982110,EBI-12208021
CXCL9 [Q07325]5EBI-10982110,EBI-3911467
CYB5B [O43169]3EBI-10982110,EBI-1058710
EFNA5 [P52803]3EBI-10982110,EBI-1753674
EMC6 [Q9BV81]3EBI-10982110,EBI-2820492
ERMP1 [Q7Z2K6]5EBI-10982110,EBI-10976398
EXTL1 [Q92935]3EBI-10982110,EBI-1760167
FKBP14 [Q9NWM8]3EBI-10982110,EBI-2477093
FXYD6 [Q9H0Q3]3EBI-10982110,EBI-713304
FZD7 [O75084]3EBI-10982110,EBI-746917
GJB2 [P29033]3EBI-10982110,EBI-3905204
GKN2 [Q86XP6]3EBI-10982110,EBI-13380976
GPR152 [Q8TDT2]3EBI-10982110,EBI-13345167
GPR25 [O00155]3EBI-10982110,EBI-10178951
GPR42 [O15529]3EBI-10982110,EBI-18076404
GRM2 [Q14416]3EBI-10982110,EBI-10232876
GUCA2A [Q02747]3EBI-10982110,EBI-12244272
GYPA [P02724]3EBI-10982110,EBI-702665
IER3IP1 [Q9Y5U9]5EBI-10982110,EBI-725665
IFNGR1 [P15260]3EBI-10982110,EBI-1030755
IGFBP5 [P24593]5EBI-10982110,EBI-720480
INSIG1 [O15503]3EBI-10982110,EBI-6252425
INSIG2 [Q9Y5U4]4EBI-10982110,EBI-8503746
JAGN1 [Q8N5M9]3EBI-10982110,EBI-10266796
LAT - isoform 2 [O43561-2]3EBI-10982110,EBI-8070286
LEPROTL1 [O95214]3EBI-10982110,EBI-750776
LPAR3 [Q9UBY5]3EBI-10982110,EBI-12033434
LRP10 [Q7Z4F1]3EBI-10982110,EBI-2830349
LTA [P01374]3EBI-10982110,EBI-524105
MFF - isoform 5 [Q9GZY8-5]3EBI-10982110,EBI-11956541
MFSD5 [Q6N075]3EBI-10982110,EBI-3920969
MFSD6 [Q6ZSS7]3EBI-10982110,EBI-2858252
MS4A13 [Q5J8X5]3EBI-10982110,EBI-12070086
OPRD1 [P41143]3EBI-10982110,EBI-2624456
ORMDL3 [Q8N138]3EBI-10982110,EBI-721750
OTOP2 [Q7RTS6]3EBI-10982110,EBI-7642372
OTOP3 [Q7RTS5]3EBI-10982110,EBI-12853910
PLPPR2 [Q96GM1]3EBI-10982110,EBI-12955265
PNLIPRP1 [P54315]5EBI-10982110,EBI-8652812
POMGNT1 [Q8WZA1]3EBI-10982110,EBI-3912424
PPGB [Q59EV6]5EBI-10982110,EBI-14210385
PRB1 [A5D903]3EBI-10982110,EBI-10173935
RETREG3 [Q86VR2]3EBI-10982110,EBI-10192441
RHD - isoform 2 [Q02161-2]3EBI-10982110,EBI-17249212
ROBO2 [Q9HCK4]5EBI-10982110,EBI-399800
RPRM [Q9NS64]3EBI-10982110,EBI-1052363
SEC22A [Q96IW7]3EBI-10982110,EBI-8652744
SERP2 [Q8N6R1]3EBI-10982110,EBI-749270
SERPINE1 [P05121]3EBI-10982110,EBI-953978
SFXN5 [Q8TD22]3EBI-10982110,EBI-17274136
SLC12A7 - isoform 2 [Q9Y666-2]3EBI-10982110,EBI-12854384
SLC16A4 - isoform 3 [O15374-3]3EBI-10982110,EBI-12889748
SLC2A5 [P22732]3EBI-10982110,EBI-2825135
SLC30A8 [Q8IWU4]3EBI-10982110,EBI-10262251
SLC35A4 [Q96G79]5EBI-10982110,EBI-12363689
SLC35B2 [Q8TB61]3EBI-10982110,EBI-1054782
SLC35B4 [Q969S0]3EBI-10982110,EBI-10281213
SLC35E4 [Q6ICL7]3EBI-10982110,EBI-12867720
SLC35G1 [Q2M3R5]3EBI-10982110,EBI-13311257
SLC38A2 [Q96QD8]3EBI-10982110,EBI-723083
SLC38A7 [Q9NVC3]5EBI-10982110,EBI-10314552
SLC39A2 [Q9NP94]3EBI-10982110,EBI-12898013
SLC39A9 [Q9NUM3]3EBI-10982110,EBI-2823239
SLC41A1 [Q8IVJ1]5EBI-10982110,EBI-12266234
SLC41A2 [Q96JW4]3EBI-10982110,EBI-10290130
SLC52A1 [Q9NWF4]3EBI-10982110,EBI-12904614
SLC5A4 [Q9NY91]3EBI-10982110,EBI-12409133
SLC7A1 [P30825]3EBI-10982110,EBI-4289564
SLC7A3 [Q8WY07]3EBI-10982110,EBI-13066314
ST6GAL2 - isoform 2 [Q96JF0-2]3EBI-10982110,EBI-12908338
STRIT1 [P0DN84]3EBI-10982110,EBI-12200293
STX8 [Q9UNK0]3EBI-10982110,EBI-727240
TLCD4 [Q96MV1]3EBI-10982110,EBI-12947623
TM4SF19 [Q96DZ7]3EBI-10982110,EBI-6448756
TM6SF2 [Q9BZW4]3EBI-10982110,EBI-13082040
TMEFF2 [Q9UIK5]3EBI-10982110,EBI-11423693
TMEM107 [Q6UX40]3EBI-10982110,EBI-12845616
TMEM11 [P17152]3EBI-10982110,EBI-723946
TMEM128 - isoform 2 [Q5BJH2-2]3EBI-10982110,EBI-10694905
TMEM144 [Q7Z5S9]3EBI-10982110,EBI-12876358
TMEM147 [Q9BVK8]3EBI-10982110,EBI-348587
TMEM179B [Q7Z7N9]3EBI-10982110,EBI-11724423
TMEM201 - isoform 2 [Q5SNT2-2]3EBI-10982110,EBI-11994282
TMEM254 [Q8TBM7]3EBI-10982110,EBI-11956809
TMEM42 [Q69YG0]3EBI-10982110,EBI-12038591
TMEM60 [Q9H2L4]3EBI-10982110,EBI-2852148
TMEM72 [A0PK05]3EBI-10982110,EBI-12878352
TMEM86B [Q8N661]5EBI-10982110,EBI-2548832
TTMP [Q5BVD1]3EBI-10982110,EBI-10243654
TUSC5 [A5PKU2]3EBI-10982110,EBI-11988865
UNC93A - isoform 2 [Q86WB7-2]6EBI-10982110,EBI-13356252
UNC93B1 [Q9H1C4]3EBI-10982110,EBI-4401271
UPK1B [O75841]3EBI-10982110,EBI-12237619
VAMP3 [Q15836]3EBI-10982110,EBI-722343
VEGFA - isoform L-VEGF121 [P15692-12]3EBI-10982110,EBI-6622053
YIPF6 [Q96EC8]3EBI-10982110,EBI-751210
ZFPL1 [O95159]3EBI-10982110,EBI-718439

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122382, 53 interactors

Database of interacting proteins

More...
DIPi
DIP-56376N

Protein interaction database and analysis system

More...
IntActi
Q96Q45, 165 interactors

Molecular INTeraction database

More...
MINTi
Q96Q45

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386264

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96Q45 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TMEM237 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHCQ Eukaryota
ENOG41124J8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005159

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96Q45

KEGG Orthology (KO)

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KOi
K22765

Identification of Orthologs from Complete Genome Data

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OMAi
THCACAR

Database of Orthologous Groups

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OrthoDBi
1428687at2759

TreeFam database of animal gene trees

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TreeFami
TF329703

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029409 TMEM237

The PANTHER Classification System

More...
PANTHERi
PTHR28388 PTHR28388, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15383 TMEM237, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
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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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z329F2Z329_HUMAN
Transmembrane protein 237
TMEM237
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WE96F8WE96_HUMAN
Transmembrane protein 237
TMEM237
118Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46489.1 [Q96Q45-1]
CCDS46490.1 [Q96Q45-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001037850.1, NM_001044385.2 [Q96Q45-1]
NP_689601.2, NM_152388.3 [Q96Q45-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000409444; ENSP00000387203; ENSG00000155755 [Q96Q45-2]
ENST00000409883; ENSP00000386264; ENSG00000155755 [Q96Q45-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
65062

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:65062

UCSC genome browser

More...
UCSCi
uc061rkx.1 human [Q96Q45-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi122382, 53 interactors
DIPiDIP-56376N
IntActiQ96Q45, 165 interactors
MINTiQ96Q45
STRINGi9606.ENSP00000386264

Protein family/group databases

MoonDBiQ96Q45 Predicted
TCDBi8.A.121.1.1 the transmembrane protein 237 (tmem237) family

PTM databases

iPTMnetiQ96Q45
PhosphoSitePlusiQ96Q45

Polymorphism and mutation databases

BioMutaiTMEM237
DMDMi378405209

Proteomic databases

EPDiQ96Q45
jPOSTiQ96Q45
MassIVEiQ96Q45
MaxQBiQ96Q45
PaxDbiQ96Q45
PeptideAtlasiQ96Q45
PRIDEiQ96Q45
ProteomicsDBi77826 [Q96Q45-1]
77827 [Q96Q45-2]
77828 [Q96Q45-3]
77829 [Q96Q45-4]
77830 [Q96Q45-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
47646 89 antibodies

The DNASU plasmid repository

More...
DNASUi
65062

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
65062
DisGeNETi65062

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMEM237
GeneReviewsiTMEM237
HGNCiHGNC:14432 TMEM237
HPAiENSG00000155755 Low tissue specificity
MalaCardsiTMEM237
MIMi614423 gene
614424 phenotype
neXtProtiNX_Q96Q45
OpenTargetsiENSG00000155755
Orphaneti475 Joubert syndrome
2318 Joubert syndrome with oculorenal defect
220497 Joubert syndrome with renal defect
PharmGKBiPA24745

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHCQ Eukaryota
ENOG41124J8 LUCA
GeneTreeiENSGT00390000005159
InParanoidiQ96Q45
KOiK22765
OMAiTHCACAR
OrthoDBi1428687at2759
TreeFamiTF329703

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TMEM237 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
65062
PharosiQ96Q45 Tdark

Protein Ontology

More...
PROi
PR:Q96Q45
RNActiQ96Q45 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000155755 Expressed in adrenal tissue and 185 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTM237_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96Q45
Secondary accession number(s): B4E1R8
, B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: February 22, 2012
Last modified: April 22, 2020
This is version 120 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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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