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Protein

Cerebral cavernous malformations 2 protein-like

Gene

CCM2L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101331-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Cerebral cavernous malformations 2 protein-like
Short name:
CCM2-like
Gene namesi
Name:CCM2L
Synonyms:C20orf160
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16153. CCM2L.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000101331.
PharmGKBiPA25702.

Polymorphism and mutation databases

BioMutaiCCM2L.
DMDMi32171369.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000794761 – 571Cerebral cavernous malformations 2 protein-likeAdd BLAST571

Proteomic databases

EPDiQ9NUG4.
PaxDbiQ9NUG4.
PeptideAtlasiQ9NUG4.
PRIDEiQ9NUG4.

PTM databases

iPTMnetiQ9NUG4.
PhosphoSitePlusiQ9NUG4.

Expressioni

Gene expression databases

BgeeiENSG00000101331.
CleanExiHS_C20orf160.
ExpressionAtlasiQ9NUG4. baseline and differential.
GenevisibleiQ9NUG4. HS.

Organism-specific databases

HPAiHPA008434.

Interactioni

Protein-protein interaction databases

BioGridi126664. 2 interactors.
IntActiQ9NUG4. 3 interactors.
STRINGi9606.ENSP00000262659.

Structurei

3D structure databases

ProteinModelPortaliQ9NUG4.
SMRiQ9NUG4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi217 – 222Poly-Gly6
Compositional biasi252 – 261Poly-Gly10
Compositional biasi273 – 278Poly-Gly6
Compositional biasi547 – 554Poly-Asp8

Sequence similaritiesi

Belongs to the CCM2 family.Curated

Phylogenomic databases

eggNOGiENOG410IDXM. Eukaryota.
ENOG410XSI2. LUCA.
GeneTreeiENSGT00390000016168.
HOGENOMiHOG000231916.
HOVERGENiHBG054451.
InParanoidiQ9NUG4.
OMAiRITWSRC.
OrthoDBiEOG091G08B3.
PhylomeDBiQ9NUG4.
TreeFamiTF328517.

Family and domain databases

CDDicd13516. HHD_CCM2. 1 hit.
InterProiIPR032375. CCM2_C.
IPR026159. Malcavernin.
[Graphical view]
PANTHERiPTHR21642:SF2. PTHR21642:SF2. 1 hit.
PfamiPF16545. CCM2_C. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NUG4-1) [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
MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL
60 70 80 90 100
IDPQILLCDY LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP
110 120 130 140 150
LKTTAEQDSI LSLSARCLLL TWRDNEELIL RIPTHEIAAA SYLQDDALHL
160 170 180 190 200
LVLKTGLGVD PVPAGVDASP GGAGRDPGPP GGAPEKRRVG TAERRHTICS
210 220 230 240 250
LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR QTFSGSWERR
260 270 280 290 300
HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY
310 320 330 340 350
CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER
360 370 380 390 400
PWLCSRSESC HTDGTYAYDA DFSCCSSFNG SQDTFEACYS GTSTPSFHGS
410 420 430 440 450
HCSGSDHSSL GLEQLQDYMV TLRSKLGPLE IQQFAMLLRE YRLGLPIQDY
460 470 480 490 500
CTGLLKLYGD RRKFLLLGMR PFIPDQDIGY FEGFLEGVGI REGGILTDSF
510 520 530 540 550
GRIKRSMSST SASAVRSYDG AAQRPEAQAF HRLLADITHD IEALAPDDDD
560 570
DDEDEPRGSR GGSDAAEDNY L
Length:571
Mass (Da):62,179
Last modified:June 20, 2003 - v3
Checksum:i369302A71BD00491
GO
Isoform 2 (identifier: Q9NUG4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     357-571: SESCHTDGTY...GSDAAEDNYL → IMAPRTPLKH...CPSRTIAQAC

Note: No experimental confirmation available.
Show »
Length:433
Mass (Da):46,728
Checksum:iC29411F6849B3BC8
GO
Isoform 3 (identifier: Q9NUG4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-235: RAGGGGGGSLERQRAGARASG → PTRSTRRTPAPTPTATWSSWL
     236-571: Missing.

Note: No experimental confirmation available.
Show »
Length:235
Mass (Da):25,908
Checksum:iA1F3EF1377553E8D
GO

Sequence cautioni

The sequence AAH32455 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007634215 – 235RAGGG…ARASG → PTRSTRRTPAPTPTATWSSW L in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_007635236 – 571Missing in isoform 3. 1 PublicationAdd BLAST336
Alternative sequenceiVSP_007633357 – 571SESCH…EDNYL → IMAPRTPLKHVTAARPHLLS MAPTAAAATTAVWAWSSYRI TWSRCGVSWGPSRSSSLRCC CGSTGWGCPSRTIAQAC in isoform 2. 1 PublicationAdd BLAST215

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057090 mRNA. Translation: BAB71363.1.
AL031658 Genomic DNA. Translation: CAI42581.1.
BC030254 mRNA. Translation: AAH30254.1.
BC032455 mRNA. Translation: AAH32455.1. Different initiation.
CCDSiCCDS13195.1. [Q9NUG4-2]
RefSeqiNP_542192.2. NM_080625.3. [Q9NUG4-2]
XP_006723769.1. XM_006723706.3. [Q9NUG4-2]
XP_011526871.1. XM_011528569.1. [Q9NUG4-1]
UniGeneiHs.382151.
Hs.638682.

Genome annotation databases

EnsembliENST00000262659; ENSP00000262659; ENSG00000101331. [Q9NUG4-2]
GeneIDi140706.
KEGGihsa:140706.
UCSCiuc002wxf.3. human. [Q9NUG4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057090 mRNA. Translation: BAB71363.1.
AL031658 Genomic DNA. Translation: CAI42581.1.
BC030254 mRNA. Translation: AAH30254.1.
BC032455 mRNA. Translation: AAH32455.1. Different initiation.
CCDSiCCDS13195.1. [Q9NUG4-2]
RefSeqiNP_542192.2. NM_080625.3. [Q9NUG4-2]
XP_006723769.1. XM_006723706.3. [Q9NUG4-2]
XP_011526871.1. XM_011528569.1. [Q9NUG4-1]
UniGeneiHs.382151.
Hs.638682.

3D structure databases

ProteinModelPortaliQ9NUG4.
SMRiQ9NUG4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126664. 2 interactors.
IntActiQ9NUG4. 3 interactors.
STRINGi9606.ENSP00000262659.

PTM databases

iPTMnetiQ9NUG4.
PhosphoSitePlusiQ9NUG4.

Polymorphism and mutation databases

BioMutaiCCM2L.
DMDMi32171369.

Proteomic databases

EPDiQ9NUG4.
PaxDbiQ9NUG4.
PeptideAtlasiQ9NUG4.
PRIDEiQ9NUG4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262659; ENSP00000262659; ENSG00000101331. [Q9NUG4-2]
GeneIDi140706.
KEGGihsa:140706.
UCSCiuc002wxf.3. human. [Q9NUG4-1]

Organism-specific databases

CTDi140706.
GeneCardsiCCM2L.
HGNCiHGNC:16153. CCM2L.
HPAiHPA008434.
neXtProtiNX_Q9NUG4.
OpenTargetsiENSG00000101331.
PharmGKBiPA25702.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDXM. Eukaryota.
ENOG410XSI2. LUCA.
GeneTreeiENSGT00390000016168.
HOGENOMiHOG000231916.
HOVERGENiHBG054451.
InParanoidiQ9NUG4.
OMAiRITWSRC.
OrthoDBiEOG091G08B3.
PhylomeDBiQ9NUG4.
TreeFamiTF328517.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101331-MONOMER.

Miscellaneous databases

GenomeRNAii140706.
PROiQ9NUG4.

Gene expression databases

BgeeiENSG00000101331.
CleanExiHS_C20orf160.
ExpressionAtlasiQ9NUG4. baseline and differential.
GenevisibleiQ9NUG4. HS.

Family and domain databases

CDDicd13516. HHD_CCM2. 1 hit.
InterProiIPR032375. CCM2_C.
IPR026159. Malcavernin.
[Graphical view]
PANTHERiPTHR21642:SF2. PTHR21642:SF2. 1 hit.
PfamiPF16545. CCM2_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCCM2L_HUMAN
AccessioniPrimary (citable) accession number: Q9NUG4
Secondary accession number(s): Q5JYR9
, Q8N5F1, Q8N6G8, Q96MD5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: June 20, 2003
Last modified: November 2, 2016
This is version 112 of the entry and version 3 of the sequence. [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, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. 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.