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Entry version 170 (16 Oct 2019)
Sequence version 4 (18 May 2010)
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Protein

Sal-like protein 2

Gene

SALL2

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

Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri373 – 395C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri401 – 423C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri631 – 653C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri659 – 681C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri691 – 713C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri911 – 933C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri940 – 964C2H2-type 7PROSITE-ProRule annotationAdd BLAST25

<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

<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

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y467

<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_and_taxonomy_section">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:
Sal-like protein 2
Alternative name(s):
Zinc finger protein 795
Zinc finger protein SALL2
Zinc finger protein Spalt-2
Short name:
Sal-2
Short name:
hSal2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SALL2
Synonyms:KIAA0360, SAL2, ZNF795
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10526 SALL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602219 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y467

<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

Keywords - Cellular componenti

Nucleus

<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

Coloboma, ocular, autosomal recessive (COAR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
6297

MalaCards human disease database

More...
MalaCardsi
SALL2
MIMi216820 phenotype

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

More...
Orphaneti
98942 Coloboma of choroid and retina
98943 Coloboma of eye lens
98946 Coloboma of eyelid
98944 Coloboma of iris
98945 Coloboma of macula
98947 Coloboma of optic disc
99861 Precursor T-cell acute lymphoblastic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34934

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9Y467

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SALL2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296453020

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000470221 – 1007Sal-like protein 2Add BLAST1007

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 residuei243PhosphoserineCombined sources1
Modified residuei797PhosphoserineCombined sources1
Modified residuei802PhosphoserineCombined sources1
Modified residuei806PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki911Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y467

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y467

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y467

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

More...
PaxDbi
Q9Y467

PeptideAtlas

More...
PeptideAtlasi
Q9Y467

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y467

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72132
86114 [Q9Y467-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y467

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

More...
PhosphoSitePlusi
Q9Y467

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highest levels in adult brain (in different areas). Lower levels in heart; very low levels in kidney and pancreas. Expressed throughout the retina and lens vesicle as well as the periocular mesenchyme.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In fetal brain exclusively in pontine nuclei. Expressed at 5 weeks of development, the stage at which optic fissure closure starts. Expression is maintained in the developing retina up to 8 weeks; after completion of fissure closure, it is restricted to the inner neuroblastic layer. Expressed in the cornea, lens, and retina at different developmental stages.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165821 Expressed in 200 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y467 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y467 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA004162

<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_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112204, 44 interactors

Protein interaction database and analysis system

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IntActi
Q9Y467, 28 interactors

Molecular INTeraction database

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MINTi
Q9Y467

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000483562

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9Y467

Database of comparative protein structure models

More...
ModBasei
Search...

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi135 – 139Poly-Gly5
Compositional biasi158 – 170Poly-ProAdd BLAST13
Compositional biasi256 – 265Poly-Ser10
Compositional biasi764 – 775Poly-GluAdd BLAST12
Compositional biasi816 – 821Poly-Ala6
Compositional biasi838 – 843Poly-Pro6

<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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri373 – 395C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri401 – 423C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri631 – 653C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri659 – 681C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri691 – 713C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri911 – 933C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri940 – 964C2H2-type 7PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1074 Eukaryota
ENOG410ZE3Z LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231986

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y467

KEGG Orthology (KO)

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KOi
K19871

Database of Orthologous Groups

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OrthoDBi
244207at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y467

TreeFam database of animal gene trees

More...
TreeFami
TF317003

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00096 zf-C2H2, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 7 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 7 hits
PS50157 ZINC_FINGER_C2H2_2, 7 hits

<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_length">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y467-1) [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
MSRRKQRKPQ QLISDCEGPS ASENGDASEE DHPQVCAKCC AQFTDPTEFL
60 70 80 90 100
AHQNACSTDP PVMVIIGGQE NPNNSSASSE PRPEGHNNPQ VMDTEHSNPP
110 120 130 140 150
DSGSSVPTDP TWGPERRGEE SPGHFLVAAT GTAAGGGGGL ILASPKLGAT
160 170 180 190 200
PLPPESTPAP PPPPPPPPPP GVGSGHLNIP LILEELRVLQ QRQIHQMQMT
210 220 230 240 250
EQICRQVLLL GSLGQTVGAP ASPSELPGTG TASSTKPLLP LFSPIKPVQT
260 270 280 290 300
SKTLASSSSS SSSSSGAETP KQAFFHLYHP LGSQHPFSAG GVGRSHKPTP
310 320 330 340 350
APSPALPGST DQLIASPHLA FPSTTGLLAA QCLGAARGLE ATASPGLLKP
360 370 380 390 400
KNGSGELSYG EVMGPLEKPG GRHKCRFCAK VFGSDSALQI HLRSHTGERP
410 420 430 440 450
YKCNVCGNRF TTRGNLKVHF HRHREKYPHV QMNPHPVPEH LDYVITSSGL
460 470 480 490 500
PYGMSVPPEK AEEEAATPGG GVERKPLVAS TTALSATESL TLLSTSAGTA
510 520 530 540 550
TAPGLPAFNK FVLMKAVEPK NKADENTPPG SEGSAISGVA ESSTATRMQL
560 570 580 590 600
SKLVTSLPSW ALLTNHFKST GSFPFPYVLE PLGASPSETS KLQQLVEKID
610 620 630 640 650
RQGAVAVTSA ASGAPTTSAP APSSSASSGP NQCVICLRVL SCPRALRLHY
660 670 680 690 700
GQHGGERPFK CKVCGRAFST RGNLRAHFVG HKASPAARAQ NSCPICQKKF
710 720 730 740 750
TNAVTLQQHV RMHLGGQIPN GGTALPEGGG AAQENGSEQS TVSGAGSFPQ
760 770 780 790 800
QQSQQPSPEE ELSEEEEEED EEEEEDVTDE DSLAGRGSES GGEKAISVRG
810 820 830 840 850
DSEEASGAEE EVGTVAAAAT AGKEMDSNEK TTQQSSLPPP PPPDSLDQPQ
860 870 880 890 900
PMEQGSSGVL GGKEEGGKPE RSSSPASALT PEGEATSVTL VEELSLQEAM
910 920 930 940 950
RKEPGESSSR KACEVCGQAF PSQAALEEHQ KTHPKEGPLF TCVFCRQGFL
960 970 980 990 1000
ERATLKKHML LAHHQVQPFA PHGPQNIAAL SLVPGCSPSI TSTGLSPFPR

KDDPTIP
Length:1,007
Mass (Da):105,309
Last modified:May 18, 2010 - v4
<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:i9F9335CE7939EFA7
GO
Isoform 2 (identifier: Q9Y467-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MSRRKQRKPQQLISDCEGPSASEN → MAHESERSSRLGVPCGEPAELG
     131-200: GTAAGGGGGL...QRQIHQMQMT → EPVCGIPVKW...ISASCTQGSA
     201-1007: Missing.

Note: No experimental confirmation available.
Show »
Length:198
Mass (Da):20,919
Checksum:iBD3AA81987D5F875
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EW59E7EW59_HUMAN
Sal-like protein 2
SALL2
906Annotation 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>
F5H433F5H433_HUMAN
Sal-like protein 2
SALL2
1,005Annotation 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>
H0YFS7H0YFS7_HUMAN
Sal-like protein 2
SALL2
902Annotation 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>
F5H1G6F5H1G6_HUMAN
Sal-like protein 2
SALL2
99Annotation 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>
A0A087X1T9A0A087X1T9_HUMAN
Sal-like protein 2
SALL2
198Annotation 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>
A0A0B4J2F7A0A0B4J2F7_HUMAN
Sal-like protein 2
SALL2
200Annotation 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 BAA21638 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti547R → L in X98834 (PubMed:8975705).Curated1
Sequence conflicti547R → L in AAI36529 (PubMed:15489334).Curated1
Sequence conflicti547R → L in AAI36530 (PubMed:15489334).Curated1
Sequence conflicti554V → M in X98834 (PubMed:8975705).Curated1
Sequence conflicti575 – 581FPYVLEP → LPLCARA in X98834 (PubMed:8975705).Curated7

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_01412975S → C. Corresponds to variant dbSNP:rs2242527Ensembl.1
Natural variantiVAR_014130122P → S3 PublicationsCorresponds to variant dbSNP:rs1263811Ensembl.1
Natural variantiVAR_014131746G → R3 PublicationsCorresponds to variant dbSNP:rs1263810Ensembl.1

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_0562511 – 24MSRRK…SASEN → MAHESERSSRLGVPCGEPAE LG in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_056252131 – 200GTAAG…QMQMT → EPVCGIPVKWPAHEALEFQL HLHYHSKPGPTSAVWPRNCG WEGASNNGIQGSQGEDSPPP ISASCTQGSA in isoform 2. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_056253201 – 1007Missing in isoform 2. 1 PublicationAdd BLAST807

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X98834 mRNA No translation available.
AB002358 mRNA Translation: BAA21638.2 Different initiation.
AE000521 Genomic DNA No translation available.
AE000658 Genomic DNA No translation available.
BC024245 mRNA Translation: AAH24245.1
BC090958 mRNA Translation: AAH90958.1
BC136528 mRNA Translation: AAI36529.1
BC136529 mRNA Translation: AAI36530.1
AF465630 mRNA Translation: AAL74188.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS32045.1 [Q9Y467-1]

NCBI Reference Sequences

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RefSeqi
NP_001278375.1, NM_001291446.1
NP_001278376.1, NM_001291447.1
NP_005398.2, NM_005407.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000614342; ENSP00000483562; ENSG00000165821

Database of genes from NCBI RefSeq genomes

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GeneIDi
6297

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6297

UCSC genome browser

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UCSCi
uc032atc.2 human [Q9Y467-1]

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
X98834 mRNA No translation available.
AB002358 mRNA Translation: BAA21638.2 Different initiation.
AE000521 Genomic DNA No translation available.
AE000658 Genomic DNA No translation available.
BC024245 mRNA Translation: AAH24245.1
BC090958 mRNA Translation: AAH90958.1
BC136528 mRNA Translation: AAI36529.1
BC136529 mRNA Translation: AAI36530.1
AF465630 mRNA Translation: AAL74188.1
CCDSiCCDS32045.1 [Q9Y467-1]
RefSeqiNP_001278375.1, NM_001291446.1
NP_001278376.1, NM_001291447.1
NP_005398.2, NM_005407.2

3D structure databases

SMRiQ9Y467
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112204, 44 interactors
IntActiQ9Y467, 28 interactors
MINTiQ9Y467
STRINGi9606.ENSP00000483562

PTM databases

iPTMnetiQ9Y467
PhosphoSitePlusiQ9Y467

Polymorphism and mutation databases

BioMutaiSALL2
DMDMi296453020

Proteomic databases

EPDiQ9Y467
jPOSTiQ9Y467
MassIVEiQ9Y467
PaxDbiQ9Y467
PeptideAtlasiQ9Y467
PRIDEiQ9Y467
ProteomicsDBi72132
86114 [Q9Y467-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6297

Genome annotation databases

EnsembliENST00000614342; ENSP00000483562; ENSG00000165821
GeneIDi6297
KEGGihsa:6297
UCSCiuc032atc.2 human [Q9Y467-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6297
DisGeNETi6297

GeneCards: human genes, protein and diseases

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GeneCardsi
SALL2
HGNCiHGNC:10526 SALL2
HPAiHPA004162
MalaCardsiSALL2
MIMi216820 phenotype
602219 gene
neXtProtiNX_Q9Y467
Orphaneti98942 Coloboma of choroid and retina
98943 Coloboma of eye lens
98946 Coloboma of eyelid
98944 Coloboma of iris
98945 Coloboma of macula
98947 Coloboma of optic disc
99861 Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA34934

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1074 Eukaryota
ENOG410ZE3Z LUCA
HOGENOMiHOG000231986
InParanoidiQ9Y467
KOiK19871
OrthoDBi244207at2759
PhylomeDBiQ9Y467
TreeFamiTF317003

Enzyme and pathway databases

SIGNORiQ9Y467

Miscellaneous databases

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

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ChiTaRSi
SALL2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SALL2

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

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GenomeRNAii
6297
PharosiQ9Y467

Protein Ontology

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PROi
PR:Q9Y467

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165821 Expressed in 200 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ9Y467 baseline and differential
GenevisibleiQ9Y467 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 3 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 7 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 7 hits
PS50157 ZINC_FINGER_C2H2_2, 7 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiSALL2_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: Q9Y467
Secondary accession number(s): B2RMX6
, B9EGK8, Q8N656, Q9Y4G1
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 170 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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