Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein crumbs homolog 2

Gene

CRB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-IIB. Also required for maintenance of the apical polarity complex during development of the cortex.By similarity

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • enzyme binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processGastrulation
LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protein crumbs homolog 2Curated
Alternative name(s):
Crumbs-like protein 2
Gene namesi
Name:CRB2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:18688. CRB2.

Subcellular locationi

Isoform 1 :
  • Apical cell membrane By similarity; Single-pass type I membrane protein Sequence analysis

  • Note: O-glucosylation is required for localization at the apical plasma membrane.By similarity
Isoform 2 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1225 – 1245HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • membrane raft Source: UniProtKB
  • plasma membrane Source: UniProtKB-SubCell
  • protein complex Source: UniProtKB

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Focal segmental glomerulosclerosis 9 (FSGS9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
See also OMIM:616220
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073266620C → S in FSGS9; loss of function mutation. 1 Publication1
Natural variantiVAR_073267628R → C in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs202128397Ensembl.1
Natural variantiVAR_073268629C → S in FSGS9; moderate loss of function mutation. 1 Publication1
Natural variantiVAR_0732721249R → Q in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs147412276Ensembl.1
Ventriculomegaly with cystic kidney disease (VMCKD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis.
See also OMIM:219730
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073269633R → W in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880377Ensembl.1
Natural variantiVAR_073270643E → A in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880300Ensembl.1
Natural variantiVAR_073271800N → K in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs765676223Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi286204.
MalaCardsiCRB2.
MIMi219730. phenotype.
616220. phenotype.
OpenTargetsiENSG00000148204.
PharmGKBiPA134910460.

Polymorphism and mutation databases

BioMutaiCRB2.
DMDMi116241316.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000000750229 – 1285Protein crumbs homolog 2Sequence analysisAdd BLAST1257

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi71 ↔ 82PROSITE-ProRule annotation
Disulfide bondi76 ↔ 94PROSITE-ProRule annotation
Disulfide bondi96 ↔ 105PROSITE-ProRule annotation
Disulfide bondi112 ↔ 123PROSITE-ProRule annotation
Disulfide bondi117 ↔ 132PROSITE-ProRule annotation
Disulfide bondi134 ↔ 143PROSITE-ProRule annotation
Disulfide bondi150 ↔ 161PROSITE-ProRule annotation
Disulfide bondi155 ↔ 170PROSITE-ProRule annotation
Disulfide bondi172 ↔ 181PROSITE-ProRule annotation
Disulfide bondi188 ↔ 199PROSITE-ProRule annotation
Disulfide bondi193 ↔ 208PROSITE-ProRule annotation
Disulfide bondi210 ↔ 220PROSITE-ProRule annotation
Disulfide bondi227 ↔ 238PROSITE-ProRule annotation
Disulfide bondi232 ↔ 247PROSITE-ProRule annotation
Glycosylationi235N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi249 ↔ 258PROSITE-ProRule annotation
Disulfide bondi265 ↔ 276PROSITE-ProRule annotation
Glycosylationi267O-linked (Glc...)By similarity1
Disulfide bondi270 ↔ 306PROSITE-ProRule annotation
Disulfide bondi308 ↔ 317PROSITE-ProRule annotation
Disulfide bondi324 ↔ 335PROSITE-ProRule annotation
Disulfide bondi329 ↔ 344PROSITE-ProRule annotation
Disulfide bondi346 ↔ 355PROSITE-ProRule annotation
Disulfide bondi362 ↔ 373PROSITE-ProRule annotation
Disulfide bondi367 ↔ 382PROSITE-ProRule annotation
Disulfide bondi384 ↔ 393PROSITE-ProRule annotation
Disulfide bondi400 ↔ 411PROSITE-ProRule annotation
Disulfide bondi405 ↔ 424PROSITE-ProRule annotation
Disulfide bondi426 ↔ 435PROSITE-ProRule annotation
Glycosylationi438N-linked (GlcNAc...)Sequence analysis1
Glycosylationi478N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi579 ↔ 603PROSITE-ProRule annotation
Disulfide bondi609 ↔ 620PROSITE-ProRule annotation
Disulfide bondi614 ↔ 629PROSITE-ProRule annotation
Disulfide bondi631 ↔ 640PROSITE-ProRule annotation
Glycosylationi669N-linked (GlcNAc...)Sequence analysis1
Glycosylationi690N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi766 ↔ 805PROSITE-ProRule annotation
Glycosylationi786N-linked (GlcNAc...)Sequence analysis1
Glycosylationi800N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi811 ↔ 822PROSITE-ProRule annotation
Disulfide bondi816 ↔ 831PROSITE-ProRule annotation
Disulfide bondi833 ↔ 842PROSITE-ProRule annotation
Glycosylationi836N-linked (GlcNAc...)Sequence analysis1
Glycosylationi886N-linked (GlcNAc...)Sequence analysis1
Glycosylationi926N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1009N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1013 ↔ 1054PROSITE-ProRule annotation
Disulfide bondi1060 ↔ 1071PROSITE-ProRule annotation
Disulfide bondi1065 ↔ 1080PROSITE-ProRule annotation
Disulfide bondi1082 ↔ 1091PROSITE-ProRule annotation
Disulfide bondi1098 ↔ 1108PROSITE-ProRule annotation
Disulfide bondi1103 ↔ 1118PROSITE-ProRule annotation
Disulfide bondi1120 ↔ 1129PROSITE-ProRule annotation
Disulfide bondi1138 ↔ 1150PROSITE-ProRule annotation
Glycosylationi1141N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1144 ↔ 1159PROSITE-ProRule annotation
Glycosylationi1158N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1161 ↔ 1170PROSITE-ProRule annotation
Disulfide bondi1177 ↔ 1188PROSITE-ProRule annotation
Disulfide bondi1182 ↔ 1197PROSITE-ProRule annotation
Disulfide bondi1199 ↔ 1208PROSITE-ProRule annotation

Post-translational modificationi

O-glucosylated by POGLUT1 at Ser-267; consists of an O-glucose trisaccharide, in which the O-glucose is elongated by the addition of two xylose residues. O-glucosylation is required for localization at the plasma membrane.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ5IJ48.
PaxDbiQ5IJ48.
PeptideAtlasiQ5IJ48.
PRIDEiQ5IJ48.

PTM databases

iPTMnetiQ5IJ48.
PhosphoSitePlusiQ5IJ48.

Expressioni

Tissue specificityi

Expressed in retina, fetal eye and brain. Also expressed in kidney, ARPE-19 and RPE/choroid cell lines, and at low levels in lung, placenta, and heart.1 Publication

Gene expression databases

BgeeiENSG00000148204.
CleanExiHS_CRB2.
GenevisibleiQ5IJ48. HS.

Organism-specific databases

HPAiHPA043674.

Interactioni

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi130332. 2 interactors.
STRINGi9606.ENSP00000362734.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WO6X-ray2.50C4-9[»]
ProteinModelPortaliQ5IJ48.
SMRiQ5IJ48.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5IJ48.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini67 – 106EGF-like 1PROSITE-ProRule annotationAdd BLAST40
Domaini108 – 144EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini146 – 182EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini184 – 221EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini223 – 259EGF-like 5PROSITE-ProRule annotationAdd BLAST37
Domaini261 – 318EGF-like 6PROSITE-ProRule annotationAdd BLAST58
Domaini320 – 356EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini358 – 394EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini396 – 436EGF-like 9PROSITE-ProRule annotationAdd BLAST41
Domaini431 – 603Laminin G-like 1PROSITE-ProRule annotationAdd BLAST173
Domaini605 – 641EGF-like 10PROSITE-ProRule annotationAdd BLAST37
Domaini647 – 805Laminin G-like 2PROSITE-ProRule annotationAdd BLAST159
Domaini807 – 843EGF-like 11PROSITE-ProRule annotationAdd BLAST37
Domaini871 – 1054Laminin G-like 3PROSITE-ProRule annotationAdd BLAST184
Domaini1056 – 1092EGF-like 12PROSITE-ProRule annotationAdd BLAST37
Domaini1094 – 1130EGF-like 13PROSITE-ProRule annotationAdd BLAST37
Domaini1134 – 1171EGF-like 14PROSITE-ProRule annotationAdd BLAST38
Domaini1173 – 1209EGF-like 15PROSITE-ProRule annotationAdd BLAST37

Sequence similaritiesi

Belongs to the Crumbs protein family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
ENOG410XP6K. LUCA.
GeneTreeiENSGT00810000125346.
HOVERGENiHBG080001.
InParanoidiQ5IJ48.
KOiK16681.
OMAiGACVDLW.
OrthoDBiEOG091G00O4.
PhylomeDBiQ5IJ48.
TreeFamiTF316224.

Family and domain databases

Gene3Di2.60.120.200. 10 hits.
InterProiView protein in InterPro
IPR013320. ConA-like_dom.
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.
IPR001791. Laminin_G.
PfamiView protein in Pfam
PF00008. EGF. 9 hits.
PF12661. hEGF. 1 hit.
PF02210. Laminin_G_2. 1 hit.
SMARTiView protein in SMART
SM00181. EGF. 15 hits.
SM00179. EGF_CA. 12 hits.
SM00282. LamG. 3 hits.
SUPFAMiSSF49899. SSF49899. 3 hits.
PROSITEiView protein in PROSITE
PS00010. ASX_HYDROXYL. 7 hits.
PS00022. EGF_1. 14 hits.
PS01186. EGF_2. 8 hits.
PS50026. EGF_3. 15 hits.
PS01187. EGF_CA. 5 hits.
PS50025. LAM_G_DOMAIN. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5IJ48-1) [UniParc]FASTAAdd to basket

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
MALARPGTPD PQALASVLLL LLWAPALSLL AGTVPSEPPS ACASDPCAPG
60 70 80 90 100
TECQATESGG YTCGPMEPRG CATQPCHHGA LCVPQGPDPT GFRCYCVPGF
110 120 130 140 150
QGPRCELDID ECASRPCHHG ATCRNLADRY ECHCPLGYAG VTCEMEVDEC
160 170 180 190 200
ASAPCLHGGS CLDGVGSFRC VCAPGYGGTR CQLDLDECQS QPCAHGGTCH
210 220 230 240 250
DLVNGFRCDC AGTGYEGTHC EREVLECASA PCEHNASCLE GLGSFRCLCW
260 270 280 290 300
PGYSGELCEV DEDECASSPC QHGGRCLQRS DPALYGGVQA AFPGAFSFRH
310 320 330 340 350
AAGFLCHCPP GFEGADCGVE VDECASRPCL NGGHCQDLPN GFQCHCPDGY
360 370 380 390 400
AGPTCEEDVD ECLSDPCLHG GTCSDTVAGY ICRCPETWGG RDCSVQLTGC
410 420 430 440 450
QGHTCPLAAT CIPIFESGVH SYVCHCPPGT HGPFCGQNTT FSVMAGSPIQ
460 470 480 490 500
ASVPAGGPLG LALRFRTTLP AGTLATRNDT KESLELALVA ATLQATLWSY
510 520 530 540 550
STTVLVLRLP DLALNDGHWH QVEVVLHLAT LELRLWHEGC PARLCVASGP
560 570 580 590 600
VALASTASAT PLPAGISSAQ LGDATFAGCL QDVRVDGHLL LPEDLGENVL
610 620 630 640 650
LGCERREQCR PLPCVHGGSC VDLWTHFRCD CARPHRGPTC ADEIPAATFG
660 670 680 690 700
LGGAPSSASF LLQELPGPNL TVSFLLRTRE SAGLLLQFAN DSAAGLTVFL
710 720 730 740 750
SEGRIRAEVP GSPAVVLPGR WDDGLRHLVM LSFGPDQLQD LGQHVHVGGR
760 770 780 790 800
LLAADSQPWG GPFRGCLQDL RLDGCHLPFF PLPLDNSSQP SELGGRQSWN
810 820 830 840 850
LTAGCVSEDM CSPDPCFNGG TCLVTWNDFH CTCPANFTGP TCAQQLWCPG
860 870 880 890 900
QPCLPPATCE EVPDGFVCVA EATFREGPPA AFSGHNASSG RLLGGLSLAF
910 920 930 940 950
RTRDSEAWLL RAAAGALEGV WLAVRNGSLA GGVRGGHGLP GAVLPIPGPR
960 970 980 990 1000
VADGAWHRVR LAMERPAATT SRWLLWLDGA ATPVALRGLA SDLGFLQGPG
1010 1020 1030 1040 1050
AVRILLAENF TGCLGRVALG GLPLPLARPR PGAAPGAREH FASWPGTPAP
1060 1070 1080 1090 1100
ILGCRGAPVC APSPCLHDGA CRDLFDAFAC ACGPGWEGPR CEAHVDPCHS
1110 1120 1130 1140 1150
APCARGRCHT HPDGRFECRC PPGFGGPRCR LPVPSKECSL NVTCLDGSPC
1160 1170 1180 1190 1200
EGGSPAANCS CLEGLAGQRC QVPTLPCEAN PCLNGGTCRA AGGVSECICN
1210 1220 1230 1240 1250
ARFSGQFCEV AKGLPLPLPF PLLEVAVPAA CACLLLLLLG LLSGILAARK
1260 1270 1280
RRQSEGTYSP SQQEVAGARL EMDSVLKVPP EERLI
Length:1,285
Mass (Da):134,265
Last modified:October 17, 2006 - v2
Checksum:iC5B7E9D7A91CD703
GO
Isoform 2 (identifier: Q5IJ48-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1131-1176: LPVPSKECSL...GQRCQVPTLP → WDGWAGGWAA...VLICDMRRTV
     1177-1285: Missing.

Note: No experimental confirmation available.
Show »
Length:1,176
Mass (Da):123,213
Checksum:iA33CB9D605EDE5A0
GO
Isoform 3 (identifier: Q5IJ48-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-332: Missing.
     333-351: GHCQDLPNGFQCHCPDGYA → MAMEPGALWTFLGHLWLLA

Note: No experimental confirmation available.
Show »
Length:953
Mass (Da):99,830
Checksum:i277A62189E3BEC0D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti430T → A in BAC86684 (PubMed:14702039).Curated1
Sequence conflicti969T → A in AK123000 (PubMed:14702039).Curated1
Sequence conflicti969T → A in BAC86684 (PubMed:14702039).Curated1
Sequence conflicti1153G → R in BAC86684 (PubMed:14702039).Curated1
Sequence conflicti1239Missing in BAC86684 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02298446P → L1 PublicationCorresponds to variant dbSNP:rs73571404Ensembl.1
Natural variantiVAR_04897490T → N1 PublicationCorresponds to variant dbSNP:rs2808415Ensembl.1
Natural variantiVAR_02298597V → L1 Publication1
Natural variantiVAR_022986116P → L1 PublicationCorresponds to variant dbSNP:rs542211566Ensembl.1
Natural variantiVAR_022987145M → T2 PublicationsCorresponds to variant dbSNP:rs1105223Ensembl.1
Natural variantiVAR_022988159G → A2 PublicationsCorresponds to variant dbSNP:rs1105222Ensembl.1
Natural variantiVAR_022989187E → D1 Publication1
Natural variantiVAR_022990351A → T1 PublicationCorresponds to variant dbSNP:rs199679542Ensembl.1
Natural variantiVAR_022991534R → Q1 Publication1
Natural variantiVAR_022992610R → W1 PublicationCorresponds to variant dbSNP:rs145286619Ensembl.1
Natural variantiVAR_073266620C → S in FSGS9; loss of function mutation. 1 Publication1
Natural variantiVAR_073267628R → C in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs202128397Ensembl.1
Natural variantiVAR_073268629C → S in FSGS9; moderate loss of function mutation. 1 Publication1
Natural variantiVAR_073269633R → W in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880377Ensembl.1
Natural variantiVAR_073270643E → A in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs730880300Ensembl.1
Natural variantiVAR_061153709V → A2 PublicationsCorresponds to variant dbSNP:rs2488602Ensembl.1
Natural variantiVAR_022993746H → Q1 PublicationCorresponds to variant dbSNP:rs757353722Ensembl.1
Natural variantiVAR_073271800N → K in VMCKD. 1 PublicationCorresponds to variant dbSNP:rs765676223Ensembl.1
Natural variantiVAR_0229941110T → M1 PublicationCorresponds to variant dbSNP:rs73571431Ensembl.1
Natural variantiVAR_0732721249R → Q in FSGS9. 1 PublicationCorresponds to variant dbSNP:rs147412276Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0147371 – 332Missing in isoform 3. 1 PublicationAdd BLAST332
Alternative sequenceiVSP_014738333 – 351GHCQD…PDGYA → MAMEPGALWTFLGHLWLLA in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0147391131 – 1176LPVPS…VPTLP → WDGWAGGWAANAPWGYGGAE KSARSVDESLPFPGPHVLIC DMRRTV in isoform 2. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_0147401177 – 1285Missing in isoform 2. 1 PublicationAdd BLAST109

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY720432 mRNA. Translation: AAU14134.1.
AK123000 mRNA. No translation available.
AK126775 mRNA. Translation: BAC86684.1.
AL445489, AL365504 Genomic DNA. Translation: CAI39793.1.
AL365504, AL445489 Genomic DNA. Translation: CAI41011.1.
AL445489, AL365504 Genomic DNA. Translation: CAM14433.1.
AL365504, AL445489 Genomic DNA. Translation: CAM21391.1.
DQ426866 mRNA. Translation: ABD90532.1.
CCDSiCCDS6852.2. [Q5IJ48-1]
RefSeqiNP_775960.4. NM_173689.6. [Q5IJ48-1]
XP_005251991.1. XM_005251934.2. [Q5IJ48-3]
UniGeneiHs.568340.
Hs.710092.

Genome annotation databases

EnsembliENST00000359999; ENSP00000353092; ENSG00000148204. [Q5IJ48-2]
ENST00000373631; ENSP00000362734; ENSG00000148204. [Q5IJ48-1]
ENST00000460253; ENSP00000435279; ENSG00000148204. [Q5IJ48-3]
GeneIDi286204.
KEGGihsa:286204.
UCSCiuc004bnw.3. human. [Q5IJ48-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY720432 mRNA. Translation: AAU14134.1.
AK123000 mRNA. No translation available.
AK126775 mRNA. Translation: BAC86684.1.
AL445489, AL365504 Genomic DNA. Translation: CAI39793.1.
AL365504, AL445489 Genomic DNA. Translation: CAI41011.1.
AL445489, AL365504 Genomic DNA. Translation: CAM14433.1.
AL365504, AL445489 Genomic DNA. Translation: CAM21391.1.
DQ426866 mRNA. Translation: ABD90532.1.
CCDSiCCDS6852.2. [Q5IJ48-1]
RefSeqiNP_775960.4. NM_173689.6. [Q5IJ48-1]
XP_005251991.1. XM_005251934.2. [Q5IJ48-3]
UniGeneiHs.568340.
Hs.710092.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WO6X-ray2.50C4-9[»]
ProteinModelPortaliQ5IJ48.
SMRiQ5IJ48.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130332. 2 interactors.
STRINGi9606.ENSP00000362734.

PTM databases

iPTMnetiQ5IJ48.
PhosphoSitePlusiQ5IJ48.

Polymorphism and mutation databases

BioMutaiCRB2.
DMDMi116241316.

Proteomic databases

EPDiQ5IJ48.
PaxDbiQ5IJ48.
PeptideAtlasiQ5IJ48.
PRIDEiQ5IJ48.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359999; ENSP00000353092; ENSG00000148204. [Q5IJ48-2]
ENST00000373631; ENSP00000362734; ENSG00000148204. [Q5IJ48-1]
ENST00000460253; ENSP00000435279; ENSG00000148204. [Q5IJ48-3]
GeneIDi286204.
KEGGihsa:286204.
UCSCiuc004bnw.3. human. [Q5IJ48-1]

Organism-specific databases

CTDi286204.
DisGeNETi286204.
GeneCardsiCRB2.
H-InvDBiHIX0008365.
HGNCiHGNC:18688. CRB2.
HPAiHPA043674.
MalaCardsiCRB2.
MIMi219730. phenotype.
609720. gene.
616220. phenotype.
neXtProtiNX_Q5IJ48.
OpenTargetsiENSG00000148204.
PharmGKBiPA134910460.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
ENOG410XP6K. LUCA.
GeneTreeiENSGT00810000125346.
HOVERGENiHBG080001.
InParanoidiQ5IJ48.
KOiK16681.
OMAiGACVDLW.
OrthoDBiEOG091G00O4.
PhylomeDBiQ5IJ48.
TreeFamiTF316224.

Miscellaneous databases

EvolutionaryTraceiQ5IJ48.
GenomeRNAii286204.
PROiPR:Q5IJ48.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148204.
CleanExiHS_CRB2.
GenevisibleiQ5IJ48. HS.

Family and domain databases

Gene3Di2.60.120.200. 10 hits.
InterProiView protein in InterPro
IPR013320. ConA-like_dom.
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.
IPR001791. Laminin_G.
PfamiView protein in Pfam
PF00008. EGF. 9 hits.
PF12661. hEGF. 1 hit.
PF02210. Laminin_G_2. 1 hit.
SMARTiView protein in SMART
SM00181. EGF. 15 hits.
SM00179. EGF_CA. 12 hits.
SM00282. LamG. 3 hits.
SUPFAMiSSF49899. SSF49899. 3 hits.
PROSITEiView protein in PROSITE
PS00010. ASX_HYDROXYL. 7 hits.
PS00022. EGF_1. 14 hits.
PS01186. EGF_2. 8 hits.
PS50026. EGF_3. 15 hits.
PS01187. EGF_CA. 5 hits.
PS50025. LAM_G_DOMAIN. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiCRUM2_HUMAN
AccessioniPrimary (citable) accession number: Q5IJ48
Secondary accession number(s): A2A3N4
, Q0QD46, Q5JS41, Q5JS43, Q6ZTA9, Q6ZWI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: October 17, 2006
Last modified: April 12, 2017
This is version 125 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.