Q9NUG4 (CCM2L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cerebral cavernous malformations 2 protein-like
Short name=CCM2-like

Gene names

Name:	CCM2L
Synonyms:	C20orf160

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	571 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Belongs to the CCM2 family.
Sequence caution	The sequence AAH32455.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NUG4-1)

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.

Isoform 2 (identifier: Q9NUG4-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9NUG4-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 571	571	Cerebral cavernous malformations 2 protein-like		PRO_0000079476
Regions
	Compositional bias	217 – 222	6	Poly-Gly
	Compositional bias	252 – 261	10	Poly-Gly
	Compositional bias	273 – 278	6	Poly-Gly
	Compositional bias	547 – 554	8	Poly-Asp
Natural variations
	Alternative sequence	215 – 235	21	RAGGG…ARASG → PTRSTRRTPAPTPTATWSSW L in isoform 3.		VSP_007634
	Alternative sequence	236 – 571	336	Missing in isoform 3.		VSP_007635
	Alternative sequence	357 – 571	215	SESCH…EDNYL → IMAPRTPLKHVTAARPHLLS MAPTAAAATTAVWAWSSYRI TWSRCGVSWGPSRSSSLRCC CGSTGWGCPSRTIAQAC in isoform 2.		VSP_007633

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 20, 2003. Version 3. Checksum: 369302A71BD00491	FASTA	571	62,179
	10 20 30 40 50 60 MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL IDPQILLCDY 70 80 90 100 110 120 LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP LKTTAEQDSI LSLSARCLLL 130 140 150 160 170 180 TWRDNEELIL RIPTHEIAAA SYLQDDALHL LVLKTGLGVD PVPAGVDASP GGAGRDPGPP 190 200 210 220 230 240 GGAPEKRRVG TAERRHTICS LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR 250 260 270 280 290 300 QTFSGSWERR HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY 310 320 330 340 350 360 CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER PWLCSRSESC 370 380 390 400 410 420 HTDGTYAYDA DFSCCSSFNG SQDTFEACYS GTSTPSFHGS HCSGSDHSSL GLEQLQDYMV 430 440 450 460 470 480 TLRSKLGPLE IQQFAMLLRE YRLGLPIQDY CTGLLKLYGD RRKFLLLGMR PFIPDQDIGY 490 500 510 520 530 540 FEGFLEGVGI REGGILTDSF GRIKRSMSST SASAVRSYDG AAQRPEAQAF HRLLADITHD 550 560 570 IEALAPDDDD DDEDEPRGSR GGSDAAEDNY L
	Isoform 2 [UniParc]. Checksum: C29411F6849B3BC8	FASTA	433	46,728
	10 20 30 40 50 60 MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL IDPQILLCDY 70 80 90 100 110 120 LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP LKTTAEQDSI LSLSARCLLL 130 140 150 160 170 180 TWRDNEELIL RIPTHEIAAA SYLQDDALHL LVLKTGLGVD PVPAGVDASP GGAGRDPGPP 190 200 210 220 230 240 GGAPEKRRVG TAERRHTICS LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR 250 260 270 280 290 300 QTFSGSWERR HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY 310 320 330 340 350 360 CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER PWLCSRIMAP 370 380 390 400 410 420 RTPLKHVTAA RPHLLSMAPT AAAATTAVWA WSSYRITWSR CGVSWGPSRS SSLRCCCGST 430 GWGCPSRTIA QAC
	Isoform 3 [UniParc]. Checksum: A1F3EF1377553E8D	FASTA	235	25,908
	10 20 30 40 50 60 MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL IDPQILLCDY 70 80 90 100 110 120 LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP LKTTAEQDSI LSLSARCLLL 130 140 150 160 170 180 TWRDNEELIL RIPTHEIAAA SYLQDDALHL LVLKTGLGVD PVPAGVDASP GGAGRDPGPP 190 200 210 220 230 GGAPEKRRVG TAERRHTICS LDWRMGWGGG AAEAPTRSTR RTPAPTPTAT WSSWL

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Small intestine.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK057090 mRNA. Translation: BAB71363.1. AL031658 Genomic DNA. Translation: CAI42581.1. BC030254 mRNA. Translation: AAH30254.1. BC032455 mRNA. Translation: AAH32455.1. Different initiation.
IPI	IPI00167007. IPI00307678. IPI00328749.
RefSeq	NP_542192.2. NM_080625.3.
UniGene	Hs.382151. Hs.638682.
3D structure databases
ProteinModelPortal	Q9NUG4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NUG4. 3 interactions.
STRING	9606.ENSP00000262659.
PTM databases
PhosphoSite	Q9NUG4.
Polymorphism databases
DMDM	32171369.
Proteomic databases
PaxDb	Q9NUG4.
PRIDE	Q9NUG4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262659; ENSP00000262659; ENSG00000101331. ENST00000300415; ENSP00000300415; ENSG00000101331.
GeneID	140706.
KEGG	hsa:140706.
UCSC	uc002wxf.2. human.
Organism-specific databases
CTD	140706.
GeneCards	GC20P030598.
HGNC	HGNC:16153. CCM2L.
HPA	HPA008434.
neXtProt	NX_Q9NUG4.
PharmGKB	PA25702.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44028.
HOGENOM	HOG000231916.
HOVERGEN	HBG054451.
InParanoid	Q9NUG4.
OMA	VYRRPLH.
OrthoDB	EOG4X6C86.
PhylomeDB	Q9NUG4.
Gene expression databases
ArrayExpress	Q9NUG4.
Bgee	Q9NUG4.
CleanEx	HS_C20orf160.
Genevestigator	Q9NUG4.
GermOnline	ENSG00000101331. Homo sapiens.
Family and domain databases
InterPro	IPR026159. Malcavernin. [Graphical view]
PANTHER	PTHR21642. PTHR21642. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	140706.
NextBio	84275.

Entry information

Entry name

CCM2L_HUMAN

Accession

Primary (citable) accession number: Q9NUG4
Secondary accession number(s): Q5JYR9 , Q8N5F1, Q8N6G8, Q96MD5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2003
Last sequence update:	June 20, 2003
Last modified:	April 3, 2013
This is version 82 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.