Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 121 (08 May 2019)
Sequence version 1 (05 Jul 2004)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Chordin-like protein 2

Gene

CHRDL2

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 inhibit BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration from immature mesenchymal cells, by preventing or reducing the rate of matrix accumulation (By similarity). Implicated in tumor angiogenesis. May play a role during myoblast and osteoblast differentiation, and maturation.By similarity2 Publications

Caution

According to PubMed:14660436, interacts with BMP2, BMP4, BMP5, BMP6, BMP7 but not INHBA. According to PubMed:15094188, interacts with INHBA but not BMP2, BMP4 and BMP6.Curated

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

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

Molecular functionDevelopmental protein
Biological processChondrogenesis, Differentiation, Osteogenesis

<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:
Chordin-like protein 2
Alternative name(s):
Breast tumor novel factor 1
Short name:
BNF-1
Chordin-related protein 2
<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:CHRDL2
Synonyms:BNF1, CHL2
ORF Names:UNQ765/PRO1557
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24168 CHRDL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613127 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6WN34

<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

Cytoplasm, Secreted

<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
25884

Open Targets

More...
OpenTargetsi
ENSG00000054938

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134883081

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CHRDL2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62900089

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 251 PublicationAdd BLAST25
<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_000000537126 – 429Chordin-like protein 2Add BLAST404

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>Glycosylationi114N-linked (GlcNAc...) asparagine1 Publication1
<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 residuei182Phosphoserine; by FAM20C1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by FAM20C in the extracellular medium.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PeptideAtlas

More...
PeptideAtlasi
Q6WN34

PRoteomics IDEntifications database

More...
PRIDEi
Q6WN34

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67768
67769 [Q6WN34-2]
67770 [Q6WN34-3]
67771 [Q6WN34-4]
67772 [Q6WN34-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6WN34

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

More...
PhosphoSitePlusi
Q6WN34

<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

Highly expressed in uterus. Moderately expressed in heart, liver, prostate, testis and ovary. Weakly expressed in skeletal muscle, kidney, spleen, small intestine and colon. Expressed in the secretory epithelial cells of uterine endometrium, fallopian tubes, endocervical glands, bladder and prostate, as well as the transitional epithelium of the urinary bladder, and in bone osteoblasts (at protein level). In normal cartilage, expression was confined in a few chondrocytes in the superficial zone as well as in the middle zone. In diseased cartilage coming from osteoarthritic patients, expression was limited to the middle zone of chondrocytes. Isoform 1 and isoform 2 are expressed in fetal cerebellum and heart, while only isoform 2 is detected in fetal spleen. Isoform 2 present in plasma.3 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in breast tumors but also in lung and colon tumors.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000054938 Expressed in 110 organ(s), highest expression level in ectocervix

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6WN34 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6WN34 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021771

<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 GDF5 (By similarity). May interact with BMP2, BMP4, BMP5, BMP6, BMP7 and INHBA.

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117395, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q6WN34

Protein interaction database and analysis system

More...
IntActi
Q6WN34, 16 interactors

<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

More...
SMRi
Q6WN34

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

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>Domaini31 – 96VWFC 1PROSITE-ProRule annotationAdd BLAST66
Domaini109 – 175VWFC 2PROSITE-ProRule annotationAdd BLAST67
Domaini250 – 315VWFC 3PROSITE-ProRule annotationAdd BLAST66

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161241

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000049211

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6WN34

KEGG Orthology (KO)

More...
KOi
K17280

Identification of Orthologs from Complete Genome Data

More...
OMAi
IFHLIQI

Database of Orthologous Groups

More...
OrthoDBi
454087at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6WN34

TreeFam database of animal gene trees

More...
TreeFami
TF106451

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001007 VWF_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00093 VWC, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00214 VWC, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01208 VWFC_1, 3 hits
PS50184 VWFC_2, 3 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 (5+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Five additional mRNAs also exist. Differential expression of isoforms was observed during myoblast and osteoblast differentiation and maturation.

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

Isoform 1 (identifier: Q6WN34-1) [UniParc]FASTAAdd to basket
Also known as: I

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
MVPEVRVLSS LLGLALLWFP LDSHARARPD MFCLFHGKRY SPGESWHPYL
60 70 80 90 100
EPQGLMYCLR CTCSEGAHVS CYRLHCPPVH CPQPVTEPQQ CCPKCVEPHT
110 120 130 140 150
PSGLRAPPKS CQHNGTMYQH GEIFSAHELF PSRLPNQCVL CSCTEGQIYC
160 170 180 190 200
GLTTCPEPGC PAPLPLPDSC CQACKDEASE QSDEEDSVQS LHGVRHPQDP
210 220 230 240 250
CSSDAGRKRG PGTPAPTGLS APLSFIPRHF RPKGAGSTTV KIVLKEKHKK
260 270 280 290 300
ACVHGGKTYS HGEVWHPAFR AFGPLPCILC TCEDGRQDCQ RVTCPTEYPC
310 320 330 340 350
RHPEKVAGKC CKICPEDKAD PGHSEISSTR CPKAPGRVLV HTSVSPSPDN
360 370 380 390 400
LRRFALEHEA SDLVEIYLWK LVKGIFHLTQ IKKVRKQDFQ KEAQHFRLLA
410 420
GPHEGHWNVF LAQTLELKVT ASPDKVTKT
Length:429
Mass (Da):47,495
Last modified:July 5, 2004 - 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:iA8111F26B2EF96A4
GO
Isoform 2 (identifier: Q6WN34-2) [UniParc]FASTAAdd to basket
Also known as: II

The sequence of this isoform differs from the canonical sequence as follows:
     374-426: GIFHLTQIKK...LKVTASPDKV → DEETEAQRGE...GQSRQSDQDI

Show »
Length:451
Mass (Da):49,675
Checksum:iCFBF0BFA7D58CFE3
GO
Isoform 3 (identifier: Q6WN34-3) [UniParc]FASTAAdd to basket
Also known as: VII

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: Missing.
     21-28: LDSHARAR → MALVGLPG
     66-162: GAHVSCYRLH...TTCPEPGCPA → NLTLPLDSGP...KRTVCSRSMG
     163-429: Missing.

Show »
Length:142
Mass (Da):15,136
Checksum:i66564AA513E1D2E7
GO
Isoform 4 (identifier: Q6WN34-4) [UniParc]FASTAAdd to basket
Also known as: VIII

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: Missing.
     21-28: LDSHARAR → MALVGLPG
     145-162: EGQIYCGLTTCPEPGCPA → MRQVSNRMKRTVCSRSMG
     163-429: Missing.

Show »
Length:142
Mass (Da):15,922
Checksum:i577245066155CBC1
GO
Isoform 5 (identifier: Q6WN34-5) [UniParc]FASTAAdd to basket
Also known as: IX

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: Missing.
     21-28: LDSHARAR → MALVGLPG
     66-113: GAHVSCYRLH...LRAPPKSCQH → NLTLPLDSGP...PTSVSSAAAQ
     114-429: Missing.

Show »
Length:93
Mass (Da):9,846
Checksum:i9DFEC54E7C1EF6CE
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6WN33Q6WN33_HUMAN
Chordin-like protein 2
CHRDL2 CHL2
308Annotation 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>
A8MQ10A8MQ10_HUMAN
Chordin-like protein 2
CHRDL2
142Annotation 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>
H0YCU0H0YCU0_HUMAN
Chordin-like protein 2
CHRDL2
91Annotation 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>
H0YDT1H0YDT1_HUMAN
Chordin-like protein 2
CHRDL2
177Annotation 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>
A0A087WZH6A0A087WZH6_HUMAN
Chordin-like protein 2
CHRDL2
281Annotation 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 conflicti187S → R in AX140199 (PubMed:15094188).Curated1
Sequence conflicti231R → I in AX140199 (PubMed:15094188).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_055651335P → L. Corresponds to variant dbSNP:rs35903991Ensembl.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_0135121 – 20Missing in isoform 3, isoform 4 and isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_01351321 – 28LDSHARAR → MALVGLPG in isoform 3, isoform 4 and isoform 5. 1 Publication8
Alternative sequenceiVSP_01351466 – 162GAHVS…PGCPA → NLTLPLDSGPHQSPASTTGP CTNTERSSVPMSCSPPACPT SVSSAAAQRARSTAASQPAP NQAAQHPSRCQTPAAKPAKM RQVSNRMKRTVCSRSMG in isoform 3. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_01351566 – 113GAHVS…KSCQH → NLTLPLDSGPHQSPASTTGP CTNTERSSVPMSCSPPACPT SVSSAAAQ in isoform 5. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_013516114 – 429Missing in isoform 5. 1 PublicationAdd BLAST316
Alternative sequenceiVSP_013517145 – 162EGQIY…PGCPA → MRQVSNRMKRTVCSRSMG in isoform 4. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_013518163 – 429Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST267
Alternative sequenceiVSP_013519374 – 426GIFHL…SPDKV → DEETEAQRGEVPGPRPHSQN LPLDSDQESQEARLPERGTA LPTARWPPRRSLERLPSPDP GAEGHGQSRQSDQDI in isoform 2. 3 PublicationsAdd BLAST53

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
AY163868 mRNA Translation: AAO31809.1
AY279090 mRNA Translation: AAQ19179.1
AY279092 mRNA Translation: AAQ19181.1
AY279093 mRNA Translation: AAQ19182.1
AY279094 mRNA Translation: AAQ19183.1
AX140199 mRNA No translation available.
AY358522 mRNA Translation: AAQ88886.1
BC142623 mRNA Translation: AAI42624.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS60893.1 [Q6WN34-1]
CCDS8234.1 [Q6WN34-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001265402.1, NM_001278473.2 [Q6WN34-1]
NP_001291319.1, NM_001304390.1
NP_001291320.1, NM_001304391.1
NP_001291344.1, NM_001304415.1
NP_001291345.1, NM_001304416.1
NP_001291346.1, NM_001304417.1
NP_056239.3, NM_015424.5 [Q6WN34-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263671; ENSP00000263671; ENSG00000054938 [Q6WN34-2]
ENST00000376332; ENSP00000365510; ENSG00000054938 [Q6WN34-1]
ENST00000528471; ENSP00000434589; ENSG00000054938 [Q6WN34-5]
ENST00000534276; ENSP00000432055; ENSG00000054938 [Q6WN34-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
25884

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:25884

UCSC genome browser

More...
UCSCi
uc001ovh.5 human [Q6WN34-1]

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
AY163868 mRNA Translation: AAO31809.1
AY279090 mRNA Translation: AAQ19179.1
AY279092 mRNA Translation: AAQ19181.1
AY279093 mRNA Translation: AAQ19182.1
AY279094 mRNA Translation: AAQ19183.1
AX140199 mRNA No translation available.
AY358522 mRNA Translation: AAQ88886.1
BC142623 mRNA Translation: AAI42624.1
CCDSiCCDS60893.1 [Q6WN34-1]
CCDS8234.1 [Q6WN34-2]
RefSeqiNP_001265402.1, NM_001278473.2 [Q6WN34-1]
NP_001291319.1, NM_001304390.1
NP_001291320.1, NM_001304391.1
NP_001291344.1, NM_001304415.1
NP_001291345.1, NM_001304416.1
NP_001291346.1, NM_001304417.1
NP_056239.3, NM_015424.5 [Q6WN34-2]

3D structure databases

SMRiQ6WN34
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117395, 1 interactor
CORUMiQ6WN34
IntActiQ6WN34, 16 interactors

PTM databases

iPTMnetiQ6WN34
PhosphoSitePlusiQ6WN34

Polymorphism and mutation databases

BioMutaiCHRDL2
DMDMi62900089

Proteomic databases

PeptideAtlasiQ6WN34
PRIDEiQ6WN34
ProteomicsDBi67768
67769 [Q6WN34-2]
67770 [Q6WN34-3]
67771 [Q6WN34-4]
67772 [Q6WN34-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
25884
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263671; ENSP00000263671; ENSG00000054938 [Q6WN34-2]
ENST00000376332; ENSP00000365510; ENSG00000054938 [Q6WN34-1]
ENST00000528471; ENSP00000434589; ENSG00000054938 [Q6WN34-5]
ENST00000534276; ENSP00000432055; ENSG00000054938 [Q6WN34-4]
GeneIDi25884
KEGGihsa:25884
UCSCiuc001ovh.5 human [Q6WN34-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
25884
DisGeNETi25884

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CHRDL2
HGNCiHGNC:24168 CHRDL2
HPAiHPA021771
MIMi613127 gene
neXtProtiNX_Q6WN34
OpenTargetsiENSG00000054938
PharmGKBiPA134883081

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000161241
HOGENOMiHOG000049211
InParanoidiQ6WN34
KOiK17280
OMAiIFHLIQI
OrthoDBi454087at2759
PhylomeDBiQ6WN34
TreeFamiTF106451

Miscellaneous databases

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

More...
ChiTaRSi
CHRDL2 human

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

More...
GenomeRNAii
25884

Protein Ontology

More...
PROi
PR:Q6WN34

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000054938 Expressed in 110 organ(s), highest expression level in ectocervix
ExpressionAtlasiQ6WN34 baseline and differential
GenevisibleiQ6WN34 HS

Family and domain databases

InterProiView protein in InterPro
IPR001007 VWF_dom
PfamiView protein in Pfam
PF00093 VWC, 3 hits
SMARTiView protein in SMART
SM00214 VWC, 3 hits
PROSITEiView protein in PROSITE
PS01208 VWFC_1, 3 hits
PS50184 VWFC_2, 3 hits

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 nameiCRDL2_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: Q6WN34
Secondary accession number(s): A5PKU9
, Q6WN30, Q6WN31, Q6WN32, Q7Z5J3
<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: April 26, 2005
Last sequence update: July 5, 2004
Last modified: May 8, 2019
This is version 121 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, Direct protein sequencing, 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 11
    Human chromosome 11: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again