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Entry version 155 (12 Aug 2020)
Sequence version 2 (18 May 2010)
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Protein

DmX-like protein 2

Gene

DMXL2

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

May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).By similarity1 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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8TDJ6

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8TDJ6

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.16.4.3, the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) 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:
DmX-like protein 2
Alternative name(s):
Rabconnectin-3
<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:DMXL2
Synonyms:KIAA0856
<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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000104093.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2938, DMXL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612186, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TDJ6

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Synapse

<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

Polyendocrine-polyneuropathy syndrome (PEPNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs.
Related information in OMIM
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_0726421942 – 1946Missing in PEPNS. 1 Publication5
Deafness, autosomal dominant, 71 (DFNA71)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA71 is characterized by bilateral mild to moderate hearing loss before age 20 years, which gradually progresses to severe to profound hearing loss.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0794842417R → H in DFNA71. 1 Publication1
Epileptic encephalopathy, early infantile, 81 (EIEE81)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE81 is an autosomal recessive form characterized by onset soon after birth, little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0834461493 – 3036Missing in EIEE81. 1 PublicationAdd BLAST1544
Natural variantiVAR_0834471712A → V in EIEE81. 1 Publication1

Keywords - Diseasei

Deafness, Diabetes mellitus, Disease mutation, Epilepsy, Hypogonadotropic hypogonadism, Neuropathy, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
23312

MalaCards human disease database

More...
MalaCardsi
DMXL2
MIMi616113, phenotype
617605, phenotype
618663, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104093

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

More...
Orphaneti
90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
453533, Polyendocrine-polyneuropathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27392

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TDJ6, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DMXL2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434481

<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_00002233241 – 3036DmX-like protein 2Add BLAST3036

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 residuei326PhosphoserineBy similarity1
Modified residuei473PhosphoserineCombined sources1
Modified residuei588PhosphoserineBy similarity1
Modified residuei944PhosphoserineCombined sources1
Modified residuei945PhosphoserineCombined sources1
Modified residuei1140PhosphoserineCombined sources1
Modified residuei1143PhosphoserineCombined sources1
Modified residuei1151PhosphoserineCombined sources1
Modified residuei1287PhosphoserineBy similarity1
Modified residuei1400PhosphoserineCombined sources1
Modified residuei1417PhosphothreonineBy similarity1
Modified residuei1857PhosphoserineCombined sources1
Modified residuei1984PhosphoserineCombined sources1
Modified residuei2022PhosphothreonineBy similarity1
Modified residuei2399PhosphoserineCombined sources1
Modified residuei2640PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TDJ6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TDJ6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TDJ6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TDJ6

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

More...
PaxDbi
Q8TDJ6

PeptideAtlas

More...
PeptideAtlasi
Q8TDJ6

PRoteomics IDEntifications database

More...
PRIDEi
Q8TDJ6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
24097
74294 [Q8TDJ6-1]
74295 [Q8TDJ6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TDJ6

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

More...
PhosphoSitePlusi
Q8TDJ6

<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
ENSG00000104093, Expressed in monocyte and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TDJ6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TDJ6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000104093, 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

Interacts with MADD and RAB3GAP.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
116903, 21 interactors

Protein interaction database and analysis system

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IntActi
Q8TDJ6, 13 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000441858

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TDJ6, 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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati108 – 145WD 1Add BLAST38
Repeati167 – 207WD 2Add BLAST41
Repeati230 – 278WD 3Add BLAST49
Repeati492 – 532WD 4Add BLAST41
Repeati595 – 634WD 5Add BLAST40
Repeati751 – 803WD 6Add BLAST53
Repeati878 – 920WD 7Add BLAST43
Repeati1000 – 1037WD 8Add BLAST38
Repeati1163 – 1204WD 9Add BLAST42
Repeati1244 – 1281WD 10Add BLAST38
Repeati2761 – 2800WD 11Add BLAST40
Repeati2804 – 2843WD 12Add BLAST40
Repeati2850 – 2892WD 13Add BLAST43
Repeati2898 – 2937WD 14Add BLAST40
Repeati2940 – 2979WD 15Add BLAST40
Repeati2992 – 3030WD 16Add BLAST39

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili2122 – 2153Sequence analysisAdd BLAST32

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1064, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000000096

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_000267_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TDJ6

KEGG Orthology (KO)

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KOi
K24155

Identification of Orthologs from Complete Genome Data

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OMAi
FVYSRSD

Database of Orthologous Groups

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OrthoDBi
127808at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TDJ6

TreeFam database of animal gene trees

More...
TreeFami
TF312896

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR022033, Rav1p_C
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12234, Rav1p_C, 2 hits
PF00400, WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320, WD40, 13 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978, SSF50978, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50082, WD_REPEATS_2, 2 hits
PS50294, WD_REPEATS_REGION, 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 (3+)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 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TDJ6-1) [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
        10         20         30         40         50
MHLHQVLTGA VNPGDNCYSV GSVGDVPFTA YGSGCDIVIL ANDFECVQII
60 70 80 90 100
PGAKHGNIQV SCVECSNQQG RIAASYGNAV CIFEPLGINS HKRNCQLKCQ
110 120 130 140 150
WLKTGQFFLS SVTYNLAWDP QDNRLLTATD SIQLWAPPGD DILEEEEEID
160 170 180 190 200
NTVPPVLNDW KCVWQCKTSV SVHLMEWSPD GEYFATAGKD DCLLKVWYPM
210 220 230 240 250
TGWKSSIIPQ DHHEVKRRQS STQFSFVYLA HPRAVTGFSW RKTSKYMPRG
260 270 280 290 300
SVCNVLLTSC HDGVCRLWAE TLLPEDCLLG EQICETTTSS IASSLSHAGR
310 320 330 340 350
HKDRIQHALE TIHHLKNLRK GQRRSSVLVT HAELMPDQTA MHEVQRHISH
360 370 380 390 400
HANALCHFHI AASINPATDI PNVLVGTAFN VDDGNGGFVV HWLNNKEFHF
410 420 430 440 450
TSSTEVFMHQ LRKLSDKQVD HENDDADRED EEHSQEDRER GLHMKLDHDL
460 470 480 490 500
SLDRESEAGT GSSEHEDGER EGSPRTYSRL SVPMPLPTVL LDRKIETLLT
510 520 530 540 550
EWNKNPDMLF TIHPVDGTFL VWHVKYLDEY NPGIFRQVQV SFSSRIPVAF
560 570 580 590 600
PSGDASSLSK NIMMYACINA TKDSHHTLLH QEGMSVGSPH GSQPHSRSHS
610 620 630 640 650
THMNILAPTV MMISKHIDGS LNQWAVTFAD KSAFTTVLTV SHKFRYCGHR
660 670 680 690 700
FHLNDLACHS VLPLLLTSSH HNALLTPELD CQWDSDNKLS RLMDPVKHIK
710 720 730 740 750
GSSKQPLRNA ATRTFHDPNA IYSELILWRV DPIGPLSYTG GVSELARINS
760 770 780 790 800
LHTSAFSNVA WLPTLIPSYC LGTYCNSASA CFVASDGKNL RLYQAVVDAR
810 820 830 840 850
KLLDELSDPE SSKLIGEVFN IVSQQSTARP GCIIELDAIT NQCGSNTQLL
860 870 880 890 900
HVFQEDFIIG YKPHKEDMEK KETEIFFQPS QGYRPPPFSE KFFLVVIEKD
910 920 930 940 950
SNNNSILHMW HLHLKSVQAC LAKASEGASS ESLLSVPGQK NVDSSPETSP
960 970 980 990 1000
SVSPMPHSSS IANLQTASKL ILSSRLVYSQ PLDLPESVEV IRATPSAGHL
1010 1020 1030 1040 1050
SSSSIYPVCL APYLVVTTCS DNKVRFWKCC MEANPECNKS DEKEIYHWKR
1060 1070 1080 1090 1100
WPLMNDEGED NSSTVSIVGR PVAVSCSYTG RLAVAYKQPI HHNGFVSKEF
1110 1120 1130 1140 1150
SMHVCIFECE STGGSEWVLE QTIHLDDLVK VGSVLDSRVS VDSNLFVYSK
1160 1170 1180 1190 1200
SDALLSKDRY LIPNIKHLVH LDWVSKEDGS HILTVGVGAN IFMYGRLSGI
1210 1220 1230 1240 1250
VTEQTNSKDG VAVITLPLGG SIKQGVKSRW VLLRSIDLVS SVDGTPSLPV
1260 1270 1280 1290 1300
SLSWVRDGIL VVGMDCEMHV YAQWKHAVKF GDTEADSSNA EEAAMQDHST
1310 1320 1330 1340 1350
FKSNMLARKS VVEGTAISDD VFCSPTVIQD GGLFEAAHVL SPTLPQYHPT
1360 1370 1380 1390 1400
QLLELMDLGK VRRAKAILSH LVKCIAGEVA IVRDPDAGEG TKRHLSRTIS
1410 1420 1430 1440 1450
VSGSTAKETV TVGKDGTRDY TEIDSIPPLP LYALLAADQD TSYRISEEST
1460 1470 1480 1490 1500
KIPQSYEDQT VSQPEDQYSE LFQIQDIPTD DIDLEPEKRE NKSKVINLSQ
1510 1520 1530 1540 1550
YGPAYFGQEH ARVLSSHLMH SSLPGLTRLE QMFLVALADT VATTSTELDE
1560 1570 1580 1590 1600
SRDKSCSGRD TLDECGLRYL LAMRLHTCLL TSLPPLYRVQ LLHQGVSTCH
1610 1620 1630 1640 1650
FAWAFHSEAE EELINMIPAI QRGDPQWSEL RAMGIGWWVR NINTLRRCIE
1660 1670 1680 1690 1700
KVAKASFQRN NDALDAALFY LSMKKKAVVW GLFRSQHDEK MTTFFSHNFN
1710 1720 1730 1740 1750
EDRWRKAALK NAFSLLGKQR FEQSAAFFLL AGSLKDAIEV CLEKMEDIQL
1760 1770 1780 1790 1800
AMVIARLYES EFETSSTYIS ILNQKILGCQ KDGSGFSCKR LHPDPFLRSL
1810 1820 1830 1840 1850
AYWVMKDYTR ALDTLLEQTP KEDDEHQVII KSCNPVAFSF YNYLRTHPLL
1860 1870 1880 1890 1900
IRRNLASPEG TLATLGLKTE KNFVDKINLI ERKLFFTTAN AHFKVGCPVL
1910 1920 1930 1940 1950
ALEVLSKIPK VTKTSALSAK KDQPDFISHR MDDVPSHSKA LSDGNGSSGI
1960 1970 1980 1990 2000
EWSNVTSSQY DWSQPIVKVD EEPLNLDWGE DHDSALDEEE DDAVGLVMKS
2010 2020 2030 2040 2050
TDAREKDKQS DQKASDPNML LTPQEEDDPE GDTEVDVIAE QLKFRACLKI
2060 2070 2080 2090 2100
LMTELRTLAT GYEVDGGKLR FQLYNWLEKE IAALHEICNH ESVIKEYSSK
2110 2120 2130 2140 2150
TYSKVESDLL DQEEMVDKPD IGSYERHQIE RRRLQAKREH AERRKSWLQK
2160 2170 2180 2190 2200
NQDLLRVFLS YCSLHGAQGG GLASVRMELK FLLQESQQET TVKQLQSPLP
2210 2220 2230 2240 2250
LPTTLPLLSA SIASTKTVIA NPVLYLNNHI HDILYTIVQM KTPPHPSIED
2260 2270 2280 2290 2300
VKVHTLHSLA ASLSASIYQA LCDSHSYSQT EGNQFTGMAY QGLLLSDRRR
2310 2320 2330 2340 2350
LRTESIEEHA TPNSSPAQWP GVSSLINLLS SAQDEDQPKL NILLCEAVVA
2360 2370 2380 2390 2400
VYLSLLIHAL ATNSSSELFR LAAHPLNNRM WAAVFGGGVK LVVKPRRQSE
2410 2420 2430 2440 2450
NISAPPVLSE DIDKHRRRFN MRMLVPGRPV KDATPPPVPA ERPSYKEKFI
2460 2470 2480 2490 2500
PPELSMWDYF VAKPFLPLSD SGVIYDSDES IHSDEEDDAF FSDTQIQEHQ
2510 2520 2530 2540 2550
DPNSYSWALL HLTMVKLALH NVKNFFPIAG LEFSELPVTS PLGIAVIKNL
2560 2570 2580 2590 2600
ENWEQILQEK MDQFEGPPPN YINTYPTDLS VGAGPAILRN KAMLEPENTP
2610 2620 2630 2640 2650
FKSRDSSAFP VKRLWHFLVK QEVLQETFIR YIFTKKRKQS EVEADLGYPG
2660 2670 2680 2690 2700
GKAKVIHKES DMIMAFSVNK ANCNEIVLAS THDVQELDVT SLLACQSYIW
2710 2720 2730 2740 2750
IGEEYDRESK SSDDVDYRGS TTTLYQPSAT SYSASQVHPP SSLPWLGTGQ
2760 2770 2780 2790 2800
TSTGASVLMK RNLHNVKRMT SHPVHQYYLT GAQDGSVRMF EWTRPQQLVC
2810 2820 2830 2840 2850
FRQAGNARVT RLYFNSQGNK CGVADGEGFL SIWQVNQTAS NPKPYMSWQC
2860 2870 2880 2890 2900
HSKATSDFAF ITSSSLVATS GHSNDNRNVC LWDTLISPGN SLIHGFTCHD
2910 2920 2930 2940 2950
HGATVLQYAP KQQLLISGGR KGHVCIFDIR QRQLIHTFQA HDSAIKALAL
2960 2970 2980 2990 3000
DPYEEYFTTG SAEGNIKVWR LTGHGLIHSF KSEHAKQSIF RNIGAGVMQI
3010 3020 3030
DIIQGNRLFS CGADGTLKTR VLPNAFNIPN RILDIL
Length:3,036
Mass (Da):339,641
Last modified:May 18, 2010 - 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:i25E9B1D05C69882C
GO
Isoform 2 (identifier: Q8TDJ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     922-1557: Missing.

Show »
Length:2,400
Mass (Da):270,148
Checksum:iB068FEAABF9030D4
GO
Isoform 3 (identifier: Q8TDJ6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2278-2278: S → SS

Show »
Length:3,037
Mass (Da):339,729
Checksum:i8FB825BB044FAC82
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
H0YLM8H0YLM8_HUMAN
DmX-like protein 2
DMXL2
1,183Annotation 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>
H0YM41H0YM41_HUMAN
DmX-like protein 2
DMXL2
115Annotation 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>
H0YME1H0YME1_HUMAN
DmX-like protein 2
DMXL2
76Annotation 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>

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 conflicti128A → T in AAL93215 (PubMed:11809763).Curated1
Sequence conflicti974S → F in AAL93215 (PubMed:11809763).Curated1
Sequence conflicti2984H → Y in AAL93215 (PubMed:11809763).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062094144E → Q. Corresponds to variant dbSNP:rs35097381Ensembl.1
Natural variantiVAR_057593497T → M. Corresponds to variant dbSNP:rs17524906Ensembl.1
Natural variantiVAR_057594903N → D. Corresponds to variant dbSNP:rs16953073EnsemblClinVar.1
Natural variantiVAR_0575951288S → P2 PublicationsCorresponds to variant dbSNP:rs12102203Ensembl.1
Natural variantiVAR_0575961481D → G. Corresponds to variant dbSNP:rs35349640Ensembl.1
Natural variantiVAR_0834461493 – 3036Missing in EIEE81. 1 PublicationAdd BLAST1544
Natural variantiVAR_0690281698N → S1 PublicationCorresponds to variant dbSNP:rs149028181Ensembl.1
Natural variantiVAR_0834471712A → V in EIEE81. 1 Publication1
Natural variantiVAR_0726421942 – 1946Missing in PEPNS. 1 Publication5
Natural variantiVAR_0794842417R → H in DFNA71. 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_043015922 – 1557Missing in isoform 2. 1 PublicationAdd BLAST636
Alternative sequenceiVSP_0449772278S → SS in isoform 3. 2 Publications1

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
AF389880 mRNA Translation: AAL93215.1
AB020663 mRNA Translation: BAA74879.2
AC020892 Genomic DNA No translation available.
AC066613 Genomic DNA No translation available.
BC140781 mRNA Translation: AAI40782.1
BC144539 mRNA Translation: AAI44540.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10141.1 [Q8TDJ6-1]
CCDS53945.1 [Q8TDJ6-2]
CCDS53946.1 [Q8TDJ6-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001167587.1, NM_001174116.1 [Q8TDJ6-3]
NP_001167588.1, NM_001174117.1 [Q8TDJ6-2]
NP_056078.2, NM_015263.3 [Q8TDJ6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000251076; ENSP00000251076; ENSG00000104093 [Q8TDJ6-1]
ENST00000449909; ENSP00000400855; ENSG00000104093 [Q8TDJ6-2]
ENST00000543779; ENSP00000441858; ENSG00000104093 [Q8TDJ6-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23312

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23312

UCSC genome browser

More...
UCSCi
uc002abf.4, human [Q8TDJ6-1]

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
AF389880 mRNA Translation: AAL93215.1
AB020663 mRNA Translation: BAA74879.2
AC020892 Genomic DNA No translation available.
AC066613 Genomic DNA No translation available.
BC140781 mRNA Translation: AAI40782.1
BC144539 mRNA Translation: AAI44540.1
CCDSiCCDS10141.1 [Q8TDJ6-1]
CCDS53945.1 [Q8TDJ6-2]
CCDS53946.1 [Q8TDJ6-3]
RefSeqiNP_001167587.1, NM_001174116.1 [Q8TDJ6-3]
NP_001167588.1, NM_001174117.1 [Q8TDJ6-2]
NP_056078.2, NM_015263.3 [Q8TDJ6-1]

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

BioGRIDi116903, 21 interactors
IntActiQ8TDJ6, 13 interactors
STRINGi9606.ENSP00000441858

Protein family/group databases

TCDBi8.A.16.4.3, the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family

PTM databases

iPTMnetiQ8TDJ6
PhosphoSitePlusiQ8TDJ6

Polymorphism and mutation databases

BioMutaiDMXL2
DMDMi296434481

Proteomic databases

EPDiQ8TDJ6
jPOSTiQ8TDJ6
MassIVEiQ8TDJ6
MaxQBiQ8TDJ6
PaxDbiQ8TDJ6
PeptideAtlasiQ8TDJ6
PRIDEiQ8TDJ6
ProteomicsDBi24097
74294 [Q8TDJ6-1]
74295 [Q8TDJ6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
51332, 44 antibodies

Genome annotation databases

EnsembliENST00000251076; ENSP00000251076; ENSG00000104093 [Q8TDJ6-1]
ENST00000449909; ENSP00000400855; ENSG00000104093 [Q8TDJ6-2]
ENST00000543779; ENSP00000441858; ENSG00000104093 [Q8TDJ6-3]
GeneIDi23312
KEGGihsa:23312
UCSCiuc002abf.4, human [Q8TDJ6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23312
DisGeNETi23312
EuPathDBiHostDB:ENSG00000104093.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DMXL2
HGNCiHGNC:2938, DMXL2
HPAiENSG00000104093, Low tissue specificity
MalaCardsiDMXL2
MIMi612186, gene
616113, phenotype
617605, phenotype
618663, phenotype
neXtProtiNX_Q8TDJ6
OpenTargetsiENSG00000104093
Orphaneti90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA
453533, Polyendocrine-polyneuropathy syndrome
PharmGKBiPA27392

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1064, Eukaryota
GeneTreeiENSGT00390000000096
HOGENOMiCLU_000267_0_0_1
InParanoidiQ8TDJ6
KOiK24155
OMAiFVYSRSD
OrthoDBi127808at2759
PhylomeDBiQ8TDJ6
TreeFamiTF312896

Enzyme and pathway databases

PathwayCommonsiQ8TDJ6
SignaLinkiQ8TDJ6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
23312, 9 hits in 871 CRISPR screens

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

More...
ChiTaRSi
DMXL2, human

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

More...
GenomeRNAii
23312
PharosiQ8TDJ6, Tbio

Protein Ontology

More...
PROi
PR:Q8TDJ6
RNActiQ8TDJ6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104093, Expressed in monocyte and 224 other tissues
ExpressionAtlasiQ8TDJ6, baseline and differential
GenevisibleiQ8TDJ6, HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR022033, Rav1p_C
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12234, Rav1p_C, 2 hits
PF00400, WD40, 1 hit
SMARTiView protein in SMART
SM00320, WD40, 13 hits
SUPFAMiSSF50978, SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS50082, WD_REPEATS_2, 2 hits
PS50294, WD_REPEATS_REGION, 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 nameiDMXL2_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: Q8TDJ6
Secondary accession number(s): B2RTR3
, B7ZMH3, F5GWF1, O94938
<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: March 7, 2006
Last sequence update: May 18, 2010
Last modified: August 12, 2020
This is version 155 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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