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Protein

Cysteine-rich with EGF-like domain protein 2

Gene

CRELD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.

GO - Molecular functioni

Keywordsi

LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
Cysteine-rich with EGF-like domain protein 2
Gene namesi
Name:CRELD2
ORF Names:UNQ185/PRO211
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000184164.14
HGNCiHGNC:28150 CRELD2
MIMi607171 gene
neXtProtiNX_Q6UXH1

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi79174
OpenTargetsiENSG00000184164
PharmGKBiPA142672079

Polymorphism and mutation databases

BioMutaiCRELD2
DMDMi74738218

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 241 PublicationAdd BLAST24
ChainiPRO_000025624425 – 353Cysteine-rich with EGF-like domain protein 2Add BLAST329

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi140 ↔ 154PROSITE-ProRule annotation
Disulfide bondi148 ↔ 166PROSITE-ProRule annotation
Disulfide bondi168 ↔ 177PROSITE-ProRule annotation
Glycosylationi251N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi294 ↔ 308PROSITE-ProRule annotation
Disulfide bondi301 ↔ 317PROSITE-ProRule annotation
Disulfide bondi319 ↔ 330PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ6UXH1
MaxQBiQ6UXH1
PeptideAtlasiQ6UXH1
PRIDEiQ6UXH1
ProteomicsDBi67616
67617 [Q6UXH1-2]
67618 [Q6UXH1-3]
67619 [Q6UXH1-4]
67620 [Q6UXH1-5]
67621 [Q6UXH1-6]

PTM databases

GlyConnecti1164
iPTMnetiQ6UXH1
PhosphoSitePlusiQ6UXH1

Expressioni

Tissue specificityi

Ubiquitously expressed.2 Publications

Developmental stagei

Expressed in all fetal tissues tested.1 Publication

Gene expression databases

BgeeiENSG00000184164 Expressed in 219 organ(s), highest expression level in secondary oocyte
CleanExiHS_CRELD2
ExpressionAtlasiQ6UXH1 baseline and differential
GenevisibleiQ6UXH1 HS

Organism-specific databases

HPAiCAB025604
HPA000603

Interactioni

Subunit structurei

May interact with CHRNA4.

Binary interactionsi

WithEntry#Exp.IntActNotes
CDKN2AP427712EBI-3935314,EBI-375053

Protein-protein interaction databases

BioGridi122591, 17 interactors
IntActiQ6UXH1, 28 interactors
MINTiQ6UXH1

Structurei

3D structure databases

ProteinModelPortaliQ6UXH1
SMRiQ6UXH1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini136 – 178EGF-like 1PROSITE-ProRule annotationAdd BLAST43
Repeati193 – 240FU 1Add BLAST48
Repeati253 – 302FU 2Add BLAST50
Domaini290 – 331EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST42

Sequence similaritiesi

Belongs to the CRELD family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

GeneTreeiENSGT00680000100014
HOGENOMiHOG000004778
HOVERGENiHBG081344
InParanoidiQ6UXH1
OMAiCVGCTGK
OrthoDBiEOG091G09AA
PhylomeDBiQ6UXH1
TreeFamiTF316507

Family and domain databases

CDDicd00064 FU, 2 hits
InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR006212 Furin_repeat
IPR009030 Growth_fac_rcpt_cys_sf
IPR002049 Laminin_EGF
PfamiView protein in Pfam
PF07645 EGF_CA, 2 hits
SMARTiView protein in SMART
SM00181 EGF, 4 hits
SM00179 EGF_CA, 2 hits
SM00261 FU, 2 hits
SUPFAMiSSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 hits

Sequences (6+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6UXH1-1) [UniParc]FASTAAdd to basket
Also known as: Delta

This isoform has been chosen as the 'canonical' 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
MRLPRRAALG LLPLLLLLPP APEAAKKPTP CHRCRGLVDK FNQGMVDTAK
60 70 80 90 100
KNFGGGNTAW EEKTLSKYES SEIRLLEILE GLCESSDFEC NQMLEAQEEH
110 120 130 140 150
LEAWWLQLKS EYPDLFEWFC VKTLKVCCSP GTYGPDCLAC QGGSQRPCSG
160 170 180 190 200
NGHCSGDGSR QGDGSCRCHM GYQGPLCTDC MDGYFSSLRN ETHSICTACD
210 220 230 240 250
ESCKTCSGLT NRDCGECEVG WVLDEGACVD VDECAAEPPP CSAAQFCKNA
260 270 280 290 300
NGSYTCEECD SSCVGCTGEG PGNCKECISG YAREHGQCAD VDECSLAEKT
310 320 330 340 350
CVRKNENCYN TPGSYVCVCP DGFEETEDAC VPPAEAEATE GESPTQLPSR

EDL
Length:353
Mass (Da):38,192
Last modified:July 5, 2004 - v1
Checksum:iED8C635DD74E768D
GO
Isoform 2 (identifier: Q6UXH1-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     258-289: Missing.

Show »
Length:321
Mass (Da):34,958
Checksum:iA74360A1D817F23D
GO
Isoform 3 (identifier: Q6UXH1-3) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     258-284: ECDSSCVGCTGEGPGNCKECISGYARE → GGPGGRVCTPGPAGFRCCLCQHSFMAS
     285-353: Missing.

Note: Minor isoform.
Show »
Length:284
Mass (Da):30,712
Checksum:i8C1CE8AA274D2EE4
GO
Isoform 4 (identifier: Q6UXH1-4) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     230-257: Missing.

Show »
Length:325
Mass (Da):35,288
Checksum:iD5C35D6D12530499
GO
Isoform 5 (identifier: Q6UXH1-5) [UniParc]FASTAAdd to basket
Also known as: Epsilon

The sequence of this isoform differs from the canonical sequence as follows:
     197-197: T → TVRTGLSDSYPPCCLSLGCWRGVGHAWIRGRNTHTQPGYSSRVWIAAFSP

Show »
Length:402
Mass (Da):43,579
Checksum:i4BCFF7D3656A24A9
GO
Isoform 6 (identifier: Q6UXH1-6) [UniParc]FASTAAdd to basket
Also known as: Zeta

The sequence of this isoform differs from the canonical sequence as follows:
     337-353: EATEGESPTQLPSREDL → GEWHGCPPHRLPSPGPQGLHVDWLLGLKSTQMVALRW

Show »
Length:373
Mass (Da):40,491
Checksum:i4DD38359F3EEBC19
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6PWM2A6PWM2_HUMAN
Cysteine-rich with EGF-like domain ...
CRELD2
229Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028892182D → E. Corresponds to variant dbSNP:rs8139422Ensembl.1
Natural variantiVAR_028893295S → A1 PublicationCorresponds to variant dbSNP:rs11545762Ensembl.1
Natural variantiVAR_028894325E → G1 PublicationCorresponds to variant dbSNP:rs11545763Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021339197T → TVRTGLSDSYPPCCLSLGCW RGVGHAWIRGRNTHTQPGYS SRVWIAAFSP in isoform 5. 1 Publication1
Alternative sequenceiVSP_021340230 – 257Missing in isoform 4. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_021341258 – 289Missing in isoform 2. 2 PublicationsAdd BLAST32
Alternative sequenceiVSP_021342258 – 284ECDSS…GYARE → GGPGGRVCTPGPAGFRCCLC QHSFMAS in isoform 3. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_021343285 – 353Missing in isoform 3. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_021344337 – 353EATEG…SREDL → GEWHGCPPHRLPSPGPQGLH VDWLLGLKSTQMVALRW in isoform 6. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ968414 mRNA Translation: CAI91316.1
DQ470676 mRNA Translation: ABF06668.1
DQ470677 mRNA Translation: ABF06669.1
DQ470678 mRNA Translation: ABF06670.1
DQ470679 mRNA Translation: ABF06671.1
DQ470680 mRNA Translation: ABF06672.1
AY358355 mRNA Translation: AAQ88721.1
AL671710 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73483.1
CH471138 Genomic DNA Translation: EAW73484.1
BC002894 mRNA Translation: AAH02894.1
BC050675 mRNA Translation: AAH50675.1
CCDSiCCDS14082.1 [Q6UXH1-1]
CCDS46730.1 [Q6UXH1-5]
CCDS63515.1 [Q6UXH1-2]
CCDS63516.1 [Q6UXH1-4]
RefSeqiNP_001128573.1, NM_001135101.2 [Q6UXH1-5]
NP_001271246.1, NM_001284317.1 [Q6UXH1-4]
NP_001271247.1, NM_001284318.1 [Q6UXH1-2]
NP_077300.3, NM_024324.4 [Q6UXH1-1]
XP_005261795.1, XM_005261738.4 [Q6UXH1-6]
UniGeneiHs.211282

Genome annotation databases

EnsembliENST00000328268; ENSP00000332223; ENSG00000184164 [Q6UXH1-1]
ENST00000403427; ENSP00000384111; ENSG00000184164 [Q6UXH1-4]
ENST00000404488; ENSP00000383938; ENSG00000184164 [Q6UXH1-5]
ENST00000407217; ENSP00000386034; ENSG00000184164 [Q6UXH1-2]
GeneIDi79174
KEGGihsa:79174
UCSCiuc003bja.4 human [Q6UXH1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ968414 mRNA Translation: CAI91316.1
DQ470676 mRNA Translation: ABF06668.1
DQ470677 mRNA Translation: ABF06669.1
DQ470678 mRNA Translation: ABF06670.1
DQ470679 mRNA Translation: ABF06671.1
DQ470680 mRNA Translation: ABF06672.1
AY358355 mRNA Translation: AAQ88721.1
AL671710 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73483.1
CH471138 Genomic DNA Translation: EAW73484.1
BC002894 mRNA Translation: AAH02894.1
BC050675 mRNA Translation: AAH50675.1
CCDSiCCDS14082.1 [Q6UXH1-1]
CCDS46730.1 [Q6UXH1-5]
CCDS63515.1 [Q6UXH1-2]
CCDS63516.1 [Q6UXH1-4]
RefSeqiNP_001128573.1, NM_001135101.2 [Q6UXH1-5]
NP_001271246.1, NM_001284317.1 [Q6UXH1-4]
NP_001271247.1, NM_001284318.1 [Q6UXH1-2]
NP_077300.3, NM_024324.4 [Q6UXH1-1]
XP_005261795.1, XM_005261738.4 [Q6UXH1-6]
UniGeneiHs.211282

3D structure databases

ProteinModelPortaliQ6UXH1
SMRiQ6UXH1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122591, 17 interactors
IntActiQ6UXH1, 28 interactors
MINTiQ6UXH1

PTM databases

GlyConnecti1164
iPTMnetiQ6UXH1
PhosphoSitePlusiQ6UXH1

Polymorphism and mutation databases

BioMutaiCRELD2
DMDMi74738218

Proteomic databases

EPDiQ6UXH1
MaxQBiQ6UXH1
PeptideAtlasiQ6UXH1
PRIDEiQ6UXH1
ProteomicsDBi67616
67617 [Q6UXH1-2]
67618 [Q6UXH1-3]
67619 [Q6UXH1-4]
67620 [Q6UXH1-5]
67621 [Q6UXH1-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328268; ENSP00000332223; ENSG00000184164 [Q6UXH1-1]
ENST00000403427; ENSP00000384111; ENSG00000184164 [Q6UXH1-4]
ENST00000404488; ENSP00000383938; ENSG00000184164 [Q6UXH1-5]
ENST00000407217; ENSP00000386034; ENSG00000184164 [Q6UXH1-2]
GeneIDi79174
KEGGihsa:79174
UCSCiuc003bja.4 human [Q6UXH1-1]

Organism-specific databases

CTDi79174
DisGeNETi79174
EuPathDBiHostDB:ENSG00000184164.14
GeneCardsiCRELD2
H-InvDBiHIX0018450
HGNCiHGNC:28150 CRELD2
HPAiCAB025604
HPA000603
MIMi607171 gene
neXtProtiNX_Q6UXH1
OpenTargetsiENSG00000184164
PharmGKBiPA142672079
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00680000100014
HOGENOMiHOG000004778
HOVERGENiHBG081344
InParanoidiQ6UXH1
OMAiCVGCTGK
OrthoDBiEOG091G09AA
PhylomeDBiQ6UXH1
TreeFamiTF316507

Miscellaneous databases

ChiTaRSiCRELD2 human
GeneWikiiCRELD2
GenomeRNAii79174
PROiPR:Q6UXH1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184164 Expressed in 219 organ(s), highest expression level in secondary oocyte
CleanExiHS_CRELD2
ExpressionAtlasiQ6UXH1 baseline and differential
GenevisibleiQ6UXH1 HS

Family and domain databases

CDDicd00064 FU, 2 hits
InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR006212 Furin_repeat
IPR009030 Growth_fac_rcpt_cys_sf
IPR002049 Laminin_EGF
PfamiView protein in Pfam
PF07645 EGF_CA, 2 hits
SMARTiView protein in SMART
SM00181 EGF, 4 hits
SM00179 EGF_CA, 2 hits
SM00261 FU, 2 hits
SUPFAMiSSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCREL2_HUMAN
AccessioniPrimary (citable) accession number: Q6UXH1
Secondary accession number(s): A5GZA2
, A5GZA3, A5GZA4, A5GZA5, A5GZA6, Q4W0V0, Q86UC0, Q9BU47
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: October 10, 2018
This is version 127 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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