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Protein

Cysteine-rich hydrophobic domain-containing protein 2

Gene

CHIC2

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

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Cysteine-rich hydrophobic domain-containing protein 2
Alternative name(s):
BrX-like translocated in leukemia
Gene namesi
Name:CHIC2
Synonyms:BTL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109220.10.
HGNCiHGNC:1935. CHIC2.

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

Cell membrane, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CHIC2 is found in a form of acute myeloid leukemia (AML). Translocation t(4;12)(q12;p13) with ETV6.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi88 – 95CGCLCCCC → SGSLSSSS: Loss of palmitoylation. Abolishes membrane association. 1 Publication8

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei111 – 112Breakpoint for translocation to form CHIC2-ETV6 in AML2

Organism-specific databases

DisGeNETi26511.
MalaCardsiCHIC2.
OpenTargetsiENSG00000109220.
PharmGKBiPA26466.

Polymorphism and mutation databases

BioMutaiCHIC2.
DMDMi62901505.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001895561 – 165Cysteine-rich hydrophobic domain-containing protein 2Add BLAST165

Post-translational modificationi

Palmitoylation in the CHIC motif is required for membrane association.1 Publication

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

EPDiQ9UKJ5.
PaxDbiQ9UKJ5.
PeptideAtlasiQ9UKJ5.
PRIDEiQ9UKJ5.

PTM databases

iPTMnetiQ9UKJ5.
PhosphoSitePlusiQ9UKJ5.
SwissPalmiQ9UKJ5.

Expressioni

Gene expression databases

BgeeiENSG00000109220.
CleanExiHS_CHIC2.
ExpressionAtlasiQ9UKJ5. baseline and differential.
GenevisibleiQ9UKJ5. HS.

Organism-specific databases

HPAiHPA026782.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117716. 29 interactors.
IntActiQ9UKJ5. 51 interactors.
MINTiMINT-1453071.
STRINGi9606.ENSP00000263921.

Structurei

3D structure databases

ProteinModelPortaliQ9UKJ5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1 – 26Sequence analysisAdd BLAST26

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi88 – 106CHIC motif (Cys-rich)Add BLAST19

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi9 – 15Poly-Glu7

Sequence similaritiesi

Belongs to the CHIC family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4101. Eukaryota.
ENOG4111JK6. LUCA.
GeneTreeiENSGT00390000003601.
HOGENOMiHOG000236313.
HOVERGENiHBG050942.
InParanoidiQ9UKJ5.
OMAiKCLDHEN.
OrthoDBiEOG091G1211.
PhylomeDBiQ9UKJ5.
TreeFamiTF314908.

Family and domain databases

InterProiView protein in InterPro
IPR019383. Golgin_A_7/ERF4.
PfamiView protein in Pfam
PF10256. Erf4. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UKJ5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MADFDEIYEE EEDEERALEE QLLKYSPDPV VVRGSGHVTV FGLSNKFESE
60 70 80 90 100
FPSSLTGKVA PEEFKASINR VNSCLKKNLP VNVRWLLCGC LCCCCTLGCS
110 120 130 140 150
MWPVICLSKR TRRSIEKLLE WENNRLYHKL CLHWRLSKRK CETNNMMEYV
160
ILIEFLPKTP IFRPD
Length:165
Mass (Da):19,254
Last modified:May 1, 2000 - v1
Checksum:iDC32A9C58524B55E
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF159423 mRNA. Translation: AAD55981.1.
AK312427 mRNA. Translation: BAG35336.1.
CH471057 Genomic DNA. Translation: EAX05453.1.
BC034691 mRNA. Translation: AAH34691.1.
CCDSiCCDS3493.1.
RefSeqiNP_036242.1. NM_012110.3.
UniGeneiHs.335393.

Genome annotation databases

EnsembliENST00000263921; ENSP00000263921; ENSG00000109220.
GeneIDi26511.
KEGGihsa:26511.
UCSCiuc003haj.3. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiCHIC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKJ5
Secondary accession number(s): B2R639
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 1, 2000
Last modified: October 25, 2017
This is version 121 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, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families