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Entry version 168 (10 Apr 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Ceramide synthase 2

Gene

CERS2

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

Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi67 – 128HomeoboxPROSITE-ProRule annotationAdd BLAST62

<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

  • DNA binding Source: UniProtKB-KW
  • sphingosine N-acyltransferase activity Source: GO_Central

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 processLipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.3.1.24 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660661 Sphingolipid de novo biosynthesis

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000256

<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:
Ceramide synthase 2
Short name:
CerS2
Alternative name(s):
LAG1 longevity assurance homolog 2
SP260
Tumor metastasis-suppressor gene 1 protein
<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:CERS2
Synonyms:LASS2, TMSG1
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000143418.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14076 CERS2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606920 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96G23

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 40LumenalSequence analysisAdd BLAST40
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei41 – 61HelicalSequence analysisAdd BLAST21
Topological domaini62 – 139CytoplasmicSequence analysisAdd BLAST78
Transmembranei140 – 160HelicalSequence analysisAdd BLAST21
Topological domaini161 – 180LumenalSequence analysisAdd BLAST20
Transmembranei181 – 201HelicalSequence analysisAdd BLAST21
Topological domaini202 – 208CytoplasmicSequence analysis7
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Topological domaini230 – 263LumenalSequence analysisAdd BLAST34
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 303CytoplasmicSequence analysisAdd BLAST19
Transmembranei304 – 324HelicalSequence analysisAdd BLAST21
Topological domaini325 – 380LumenalSequence analysisAdd BLAST56

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
29956

Open Targets

More...
OpenTargetsi
ENSG00000143418

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30300

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CERS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
51316514

<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_00001855091 – 380Ceramide synthase 2Add BLAST380

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi19N-linked (GlcNAc...) asparagine2 Publications1
<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 residuei341PhosphoserineCombined sources1
Modified residuei346PhosphothreonineCombined sources1
Modified residuei348PhosphoserineCombined sources1
Modified residuei349PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96G23

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96G23

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96G23

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

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PaxDbi
Q96G23

PeptideAtlas

More...
PeptideAtlasi
Q96G23

PRoteomics IDEntifications database

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PRIDEi
Q96G23

ProteomicsDB human proteome resource

More...
ProteomicsDBi
76584

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1105

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96G23

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

More...
PhosphoSitePlusi
Q96G23

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96G23

<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

Expressed in kidney, liver, brain, heart, placenta and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000143418 Expressed in 222 organ(s), highest expression level in right adrenal gland cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96G23 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96G23 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA027262

<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">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ATP6V0C, ASGR1, ASGR2 and SLC22A1/OCT1. Interacts with ELOV1, HSD17B12 and TECR.2 Publications

<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
118992, 50 interactors

Protein interaction database and analysis system

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IntActi
Q96G23, 29 interactors

Molecular INTeraction database

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MINTi
Q96G23

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000271688

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96G23

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

More...
SMRi
Q96G23

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini131 – 332TLCPROSITE-ProRule annotationAdd BLAST202

Keywords - Domaini

Homeobox, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1607 Eukaryota
COG5058 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182700

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052310

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96G23

KEGG Orthology (KO)

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KOi
K04710

Identification of Orthologs from Complete Genome Data

More...
OMAi
GKQPKQA

Database of Orthologous Groups

More...
OrthoDBi
987268at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96G23

TreeFam database of animal gene trees

More...
TreeFami
TF314319

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR016439 Lag1/Lac1-like
IPR006634 TLC-dom

The PANTHER Classification System

More...
PANTHERi
PTHR12560 PTHR12560, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit
PF03798 TRAM_LAG1_CLN8, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF005225 LAG1_LAC1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00724 TLC, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit
PS50922 TLC, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Q96G23-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLQTLYDYFW WERLWLPVNL TWADLEDRDG RVYAKASDLY ITLPLALLFL
60 70 80 90 100
IVRYFFELYV ATPLAALLNI KEKTRLRAPP NATLEHFYLT SGKQPKQVEV
110 120 130 140 150
ELLSRQSGLS GRQVERWFRR RRNQDRPSLL KKFREASWRF TFYLIAFIAG
160 170 180 190 200
MAVIVDKPWF YDMKKVWEGY PIQSTIPSQY WYYMIELSFY WSLLFSIASD
210 220 230 240 250
VKRKDFKEQI IHHVATIILI SFSWFANYIR AGTLIMALHD SSDYLLESAK
260 270 280 290 300
MFNYAGWKNT CNNIFIVFAI VFIITRLVIL PFWILHCTLV YPLELYPAFF
310 320 330 340 350
GYYFFNSMMG VLQLLHIFWA YLILRMAHKF ITGKLVEDER SDREETESSE
360 370 380
GEEAAAGGGA KSRPLANGHP ILNNNHRKND
Length:380
Mass (Da):44,876
Last modified:December 1, 2001 - v1
<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:iC8CEAF6AAD0B4577
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SZE1Q5SZE1_HUMAN
Ceramide synthase 2
CERS2
304Annotation 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>
Q5SZE4Q5SZE4_HUMAN
Ceramide synthase 2
CERS2
249Annotation 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>
Q5SZE3Q5SZE3_HUMAN
Ceramide synthase 2
CERS2
192Annotation 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>
H0YKH6H0YKH6_HUMAN
Ceramide synthase 2
CERS2
222Annotation 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>
Q5SZE2Q5SZE2_HUMAN
Ceramide synthase 2
CERS2
128Annotation 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>
H0YNU7H0YNU7_HUMAN
Ceramide synthase 2
CERS2
377Annotation 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>
H0YLQ6H0YLQ6_HUMAN
Ceramide synthase 2
CERS2
228Annotation 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 BAA91505 differs from that shown. Reason: Erroneous initiation.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 conflicti154I → T in AAF01058 (Ref. 8) Curated1
Sequence conflicti345E → V in AAF01058 (Ref. 8) Curated1
Sequence conflicti353E → K in AAF01058 (Ref. 8) 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_052325115E → A. Corresponds to variant dbSNP:rs267738Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF177338 mRNA Translation: AAG17982.2
AY091458 mRNA Translation: AAM12028.1
AL590133 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53497.1
CH471121 Genomic DNA Translation: EAW53498.1
CH471121 Genomic DNA Translation: EAW53499.1
CH471121 Genomic DNA Translation: EAW53502.1
BC001357 mRNA Translation: AAH01357.2
BC010032 mRNA Translation: AAH10032.1
AK001105 mRNA Translation: BAA91505.1 Different initiation.
AF189062 mRNA Translation: AAF01058.4

The Consensus CDS (CCDS) project

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CCDSi
CCDS973.1

NCBI Reference Sequences

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RefSeqi
NP_071358.1, NM_022075.4
NP_859530.1, NM_181746.3
XP_011507754.1, XM_011509452.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.744017

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000271688; ENSP00000271688; ENSG00000143418
ENST00000368954; ENSP00000357950; ENSG00000143418

Database of genes from NCBI RefSeq genomes

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GeneIDi
29956

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29956

UCSC genome browser

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UCSCi
uc001evy.3 human

Keywords - Coding sequence diversityi

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
AF177338 mRNA Translation: AAG17982.2
AY091458 mRNA Translation: AAM12028.1
AL590133 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53497.1
CH471121 Genomic DNA Translation: EAW53498.1
CH471121 Genomic DNA Translation: EAW53499.1
CH471121 Genomic DNA Translation: EAW53502.1
BC001357 mRNA Translation: AAH01357.2
BC010032 mRNA Translation: AAH10032.1
AK001105 mRNA Translation: BAA91505.1 Different initiation.
AF189062 mRNA Translation: AAF01058.4
CCDSiCCDS973.1
RefSeqiNP_071358.1, NM_022075.4
NP_859530.1, NM_181746.3
XP_011507754.1, XM_011509452.2
UniGeneiHs.744017

3D structure databases

ProteinModelPortaliQ96G23
SMRiQ96G23
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118992, 50 interactors
IntActiQ96G23, 29 interactors
MINTiQ96G23
STRINGi9606.ENSP00000271688

Chemistry databases

SwissLipidsiSLP:000000256

PTM databases

GlyConnecti1105
iPTMnetiQ96G23
PhosphoSitePlusiQ96G23
SwissPalmiQ96G23

Polymorphism and mutation databases

BioMutaiCERS2
DMDMi51316514

Proteomic databases

EPDiQ96G23
jPOSTiQ96G23
MaxQBiQ96G23
PaxDbiQ96G23
PeptideAtlasiQ96G23
PRIDEiQ96G23
ProteomicsDBi76584

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
29956
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000271688; ENSP00000271688; ENSG00000143418
ENST00000368954; ENSP00000357950; ENSG00000143418
GeneIDi29956
KEGGihsa:29956
UCSCiuc001evy.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
29956
DisGeNETi29956
EuPathDBiHostDB:ENSG00000143418.19

GeneCards: human genes, protein and diseases

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GeneCardsi
CERS2
HGNCiHGNC:14076 CERS2
HPAiHPA027262
MIMi606920 gene
neXtProtiNX_Q96G23
OpenTargetsiENSG00000143418
PharmGKBiPA30300

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1607 Eukaryota
COG5058 LUCA
GeneTreeiENSGT00950000182700
HOVERGENiHBG052310
InParanoidiQ96G23
KOiK04710
OMAiGKQPKQA
OrthoDBi987268at2759
PhylomeDBiQ96G23
TreeFamiTF314319

Enzyme and pathway databases

BRENDAi2.3.1.24 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

Miscellaneous databases

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

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ChiTaRSi
CERS2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LASS2

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

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GenomeRNAii
29956

Protein Ontology

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PROi
PR:Q96G23

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143418 Expressed in 222 organ(s), highest expression level in right adrenal gland cortex
ExpressionAtlasiQ96G23 baseline and differential
GenevisibleiQ96G23 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR016439 Lag1/Lac1-like
IPR006634 TLC-dom
PANTHERiPTHR12560 PTHR12560, 1 hit
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF03798 TRAM_LAG1_CLN8, 1 hit
PIRSFiPIRSF005225 LAG1_LAC1, 1 hit
SMARTiView protein in SMART
SM00724 TLC, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit
PS50922 TLC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiCERS2_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: Q96G23
Secondary accession number(s): D3DV06
, Q5SZE5, Q9HD96, Q9NW79
<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: August 16, 2004
Last sequence update: December 1, 2001
Last modified: April 10, 2019
This is version 168 of the entry and version 1 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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