Q14781 (CBX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Chromobox protein homolog 2

Gene names

Name:

CBX2

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	532 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression. Ref.5 Ref.7
Subunit structure	Component of a PRC1-like complex. Ref.4 Ref.6 Ref.7
Subcellular location	Nucleus Ref.7.
Involvement in disease	46,XY sex reversal 5 (SRXY5) [MIM:613080]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Miscellaneous	The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and CBX8, show distinct nulear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1-like protein complexes. The hPRC-H complex purification reported by Ref.4 probably presents a mixture of different complexes.
Sequence similarities	Contains 1 A.T hook DNA-binding domain. Contains 1 chromo domain.

Ontologies

Keywords
Biological process	Differentiation Sexual differentiation Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Ligand	DNA-binding
Molecular function	Chromatin regulator Repressor
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW chromatin modification Non-traceable author statement. Source: UniProtKB development of primary sexual characteristics Inferred from mutant phenotype Ref.5. Source: UniProtKB negative regulation of transcription from RNA polymerase II promoter Inferred from mutant phenotype Ref.7. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	PRC1 complex Inferred from direct assay Ref.4Ref.6. Source: UniProtKB heterochromatin Inferred from electronic annotation. Source: Compara
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW chromatin binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MDFI	Q99750	3	EBI-745934,EBI-724076

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q14781-1)

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: Q14781-2)

The sequence of this isoform differs from the canonical sequence as follows:
     97-211: EPDAPSKSKS...PPLSAPVAGL → VGGCAGYADP...DGKEQEACVQ
     212-532: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 532

532

Chromobox protein homolog 2

PRO_0000080201

Regions

Domain

12 – 70

59

Chromo

DNA binding

75 – 87

13

A.T hook

Motif

163 – 168

6

Nuclear localization signal Potential

Compositional bias

87 – 120

34

Ser-rich

Compositional bias

464 – 469

6

Poly-Ser

Natural variations

Alternative sequence

97 – 211

115

EPDAP…PVAGL → VGGCAGYADPTSQHPLGVGG RQREGLGPSGRGWHFCQQSV PLLGKQEPPFFLSLSFCCQG PQPAESSSPPLPGASCFSLS CTPLCWVAGSNCCRQALFPP RGSLGDGKEQEACVQ in isoform 2.

VSP_015816

Alternative sequence

212 – 532

321

Missing in isoform 2.

VSP_015817

Natural variant

98

1

P → L in SRXY5. Ref.5
Corresponds to variant rs121908255 [ dbSNP | Ensembl ].

VAR_063751

Natural variant

443

1

R → P in SRXY5. Ref.5
Corresponds to variant rs121908256 [ dbSNP | Ensembl ].

VAR_063752

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

532

Helix Strand Turn

Details...

Beta strand

11 – 23

13

Beta strand

26 – 33

8

Helix

38 – 40

3

Beta strand

42 – 45

4

Helix

46 – 48

3

Helix

53 – 59

7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 11, 2005. Version 2. Checksum: 3DB58A654568BDD4	FASTA	532	56,081
	10 20 30 40 50 60 MEELSSVGEQ VFAAECILSK RLRKGKLEYL VKWRGWSSKH NSWEPEENIL DPRLLLAFQK 70 80 90 100 110 120 KEHEKEVQNR KRGKRPRGRP RKLTAMSSCS RRSKLKEPDA PSKSKSSSSS SSSTSSSSSS 130 140 150 160 170 180 DEEDDSDLDA KRGPRGRETH PVPQKKAQIL VAKPELKDPI RKKRGRKPLP PEQKATRRPV 190 200 210 220 230 240 SLAKVLKTAR KDLGAPASKL PPPLSAPVAG LAALKAHAKE ACGGPSAMAT PENLASLMKG 250 260 270 280 290 300 MASSPGRGGI SWQSSIVHYM NRMTQSQAQA ASRLALKAQA TNKCGLGLDL KVRTQKGELG 310 320 330 340 350 360 MSPPGSKIPK APSGGAVEQK VGNTGGPPHT HGASRVPAGC PGPQPAPTQE LSLQVLDLQS 370 380 390 400 410 420 VKNGMPGVGL LARHATATKG VPATNPAPGK GTGSGLIGAS GATMPTDTSK SEKLASRAVA 430 440 450 460 470 480 PPTPASKRDC VKGSATPSGQ ESRTAPGEAR KAATLPEMSA GEESSSSDSD PDSASPPSTG 490 500 510 520 530 QNPSVSVQTS QDWKPTRSLI EHVFVTDVTA NLITVTVKES PTSVGFFNLR HY
	Isoform 2 [UniParc]. Checksum: 97D17A3C7963ECA1	FASTA	211	23,312
	10 20 30 40 50 60 MEELSSVGEQ VFAAECILSK RLRKGKLEYL VKWRGWSSKH NSWEPEENIL DPRLLLAFQK 70 80 90 100 110 120 KEHEKEVQNR KRGKRPRGRP RKLTAMSSCS RRSKLKVGGC AGYADPTSQH PLGVGGRQRE 130 140 150 160 170 180 GLGPSGRGWH FCQQSVPLLG KQEPPFFLSL SFCCQGPQPA ESSSPPLPGA SCFSLSCTPL 190 200 210 CWVAGSNCCR QALFPPRGSL GDGKEQEACV Q

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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] (ISOFORM 2). Tissue: Uterus.
[3]	"Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25." Gecz J., Gaunt S.J., Passage E., Burton R.D., Cudrey C., Pearce J.J.H., Fontes M. Genomics 26:130-133(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 455-532. Tissue: Peripheral blood.
[4]	"The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans." Levine S.S., Weiss A., Erdjument-Bromage H., Shao Z., Tempst P., Kingston R.E. Mol. Cell. Biol. 22:6070-6078(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A PRC1-LIKE HPRC-H COMPLEX WITH BMI1; CBX4; CBX8; PHC1; PHC2; PHC3; RING1 AND RNF2.
[5]	"Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene." Biason-Lauber A., Konrad D., Meyer M., DeBeaufort C., Schoenle E.J. Am. J. Hum. Genet. 84:658-663(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN SEXUAL DEVELOPMENT, VARIANTS SRXY5 LEU-98 AND PRO-443.
[6]	"Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus." Maertens G.N., El Messaoudi-Aubert S., Racek T., Stock J.K., Nicholls J., Rodriguez-Niedenfuhr M., Gil J., Peters G. PLoS ONE 4:E6380-E6380(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A PRC1-LIKE COMPLEX.
[7]	"Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells." Vandamme J., Volkel P., Rosnoblet C., Le Faou P., Angrand P.O. Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, MASS SPECTROMETRY (ISOFORM 2), IDENTIFICATION IN A PRC1-LIKE COMPLEX, SUBCELLULAR LOCATION.
[8]	"Solution structure of the chromo domain of chromobox homolog 2 from human." RIKEN structural genomics initiative (RSGI) Submitted (JAN-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 6-69.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AC105337 Genomic DNA. No translation available.
BC004252 mRNA. Translation: AAH04252.1.
BC119759 mRNA. Translation: AAI19760.1.
BC119760 mRNA. Translation: AAI19761.1.
X77824 Genomic DNA. Translation: CAA54839.1.

IPI

IPI00013321.
IPI00651642.

PIR

I38007.

RefSeq

NP_005180.1. NM_005189.2.
NP_116036.1. NM_032647.3.

UniGene

Hs.368410.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2D9U	NMR	-	A	9-69	[»]
3H91	X-ray	1.50	A/B	9-62	[»]

ProteinModelPortal

Q14781.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-48604N.

IntAct

Q14781. 28 interactions.

MINT

MINT-1481691.

STRING

9606.ENSP00000308750.

PTM databases

PhosphoSite

Q14781.

Polymorphism databases

DMDM

77416853.

Proteomic databases

PaxDb

Q14781.

PRIDE

Q14781.

Protocols and materials databases

DNASU

84733.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000269399; ENSP00000269399; ENSG00000173894.
ENST00000310942; ENSP00000308750; ENSG00000173894.
ENST00000573833; ENSP00000460115; ENSG00000262762.
ENST00000576666; ENSP00000458957; ENSG00000262762.

GeneID

84733.

KEGG

hsa:84733.

UCSC

uc002jxb.2. human.
uc002jxc.3. human.

Organism-specific databases

CTD

84733.

GeneCards

GC17P077751.

HGNC

HGNC:1552. CBX2.

HPA

HPA023083.

MIM

602770. gene.
613080. phenotype.

neXtProt

NX_Q14781.

Orphanet

242. 46,XY complete gonadal dysgenesis.

PharmGKB

PA26127.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG117427.

HOGENOM

HOG000231217.

HOVERGEN

HBG005256.

InParanoid

Q14781.

KO

K11451.

OMA

ASLMKGM.

OrthoDB

EOG4Q84ZX.

Gene expression databases

Bgee

Q14781.

CleanEx

HS_CBX2.

Genevestigator

Q14781.

GermOnline

ENSG00000173894. Homo sapiens.

Family and domain databases

InterPro

IPR017956. AT_hook_DNA-bd_motif.
IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR023779. Chromodomain_CS.
[Graphical view]

Pfam

PF00385. Chromo. 1 hit.
[Graphical view]

SMART

SM00384. AT_hook. 1 hit.
SM00298. CHROMO. 1 hit.
[Graphical view]

SUPFAM

SSF54160. Chromodomain-like. 1 hit.

PROSITE

PS00598. CHROMO_1. 1 hit.
PS50013. CHROMO_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q14781.

GenomeRNAi

84733.

NextBio

74850.

SOURCE

Search...

Entry information

Entry name

CBX2_HUMAN

Accession

Primary (citable) accession number: Q14781
Secondary accession number(s): Q0VDA5, Q9BTB1

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	October 11, 2005
Last modified:	May 1, 2013
This is version 113 of the entry and version 2 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.