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

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

Complete GO annotation...

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

HGNCiHGNC:1935. CHIC2.

Subcellular locationi

  • Cell membrane 1 Publication
  • Cytoplasmic vesicle 1 Publication

  • Note: Also present at a Golgi-like vesicular compartment and at scattered vesicles.

GO - Cellular componenti

Complete GO annotation...

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.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi88 – 958CGCLCCCC → SGSLSSSS: Loss of palmitoylation. Abolishes membrane association. 1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei111 – 1122Breakpoint for translocation to form CHIC2-ETV6 in AML

Organism-specific databases

MalaCardsiCHIC2.
PharmGKBiPA26466.

Polymorphism and mutation databases

BioMutaiCHIC2.
DMDMi62901505.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 165165Cysteine-rich hydrophobic domain-containing protein 2PRO_0000189556Add
BLAST

Post-translational modificationi

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

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ9UKJ5.
PRIDEiQ9UKJ5.

PTM databases

iPTMnetiQ9UKJ5.
PhosphoSiteiQ9UKJ5.
SwissPalmiQ9UKJ5.

Expressioni

Gene expression databases

BgeeiQ9UKJ5.
CleanExiHS_CHIC2.
ExpressionAtlasiQ9UKJ5. baseline and differential.
GenevisibleiQ9UKJ5. HS.

Organism-specific databases

HPAiHPA026782.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CDR2Q018503EBI-741528,EBI-1181367
CEP44Q9C0F13EBI-741528,EBI-744115
FLJ13057Q53SE73EBI-741528,EBI-10172181
KRT40Q6A1623EBI-741528,EBI-10171697
KRTAP10-7P604093EBI-741528,EBI-10172290
KRTAP10-8P604103EBI-741528,EBI-10171774
KRTAP10-9P604113EBI-741528,EBI-10172052
KRTAP4-2Q9BYR53EBI-741528,EBI-10172511
KRTAP5-9P263713EBI-741528,EBI-3958099
MEOX2A4D1273EBI-741528,EBI-10172134
NOTCH2NLQ7Z3S93EBI-741528,EBI-945833
PLEKHF2Q9H8W43EBI-741528,EBI-742388
PNMA1Q8ND903EBI-741528,EBI-302345
SPERTQ8NA613EBI-741528,EBI-741724
TCF4P158843EBI-741528,EBI-533224

Protein-protein interaction databases

BioGridi117716. 28 interactions.
IntActiQ9UKJ5. 23 interactions.
MINTiMINT-1453071.
STRINGi9606.ENSP00000263921.

Structurei

3D structure databases

ProteinModelPortaliQ9UKJ5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1 – 2626Sequence analysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi88 – 10619CHIC motif (Cys-rich)Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi9 – 157Poly-Glu

Sequence similaritiesi

Belongs to the CHIC family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4101. Eukaryota.
ENOG4111JK6. LUCA.
GeneTreeiENSGT00390000003601.
HOGENOMiHOG000236313.
HOVERGENiHBG050942.
InParanoidiQ9UKJ5.
OMAiFKATVMR.
OrthoDBiEOG7W155Z.
PhylomeDBiQ9UKJ5.
TreeFamiTF314908.

Family and domain databases

InterProiIPR019383. Golgin_A_7/ERF4.
[Graphical view]
PfamiPF10256. Erf4. 1 hit.
[Graphical view]

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

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

3D structure databases

ProteinModelPortaliQ9UKJ5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117716. 28 interactions.
IntActiQ9UKJ5. 23 interactions.
MINTiMINT-1453071.
STRINGi9606.ENSP00000263921.

PTM databases

iPTMnetiQ9UKJ5.
PhosphoSiteiQ9UKJ5.
SwissPalmiQ9UKJ5.

Polymorphism and mutation databases

BioMutaiCHIC2.
DMDMi62901505.

Proteomic databases

PaxDbiQ9UKJ5.
PRIDEiQ9UKJ5.

Protocols and materials databases

DNASUi26511.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi26511.
GeneCardsiCHIC2.
HGNCiHGNC:1935. CHIC2.
HPAiHPA026782.
MalaCardsiCHIC2.
MIMi604332. gene.
neXtProtiNX_Q9UKJ5.
PharmGKBiPA26466.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4101. Eukaryota.
ENOG4111JK6. LUCA.
GeneTreeiENSGT00390000003601.
HOGENOMiHOG000236313.
HOVERGENiHBG050942.
InParanoidiQ9UKJ5.
OMAiFKATVMR.
OrthoDBiEOG7W155Z.
PhylomeDBiQ9UKJ5.
TreeFamiTF314908.

Miscellaneous databases

GenomeRNAii26511.
PROiQ9UKJ5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UKJ5.
CleanExiHS_CHIC2.
ExpressionAtlasiQ9UKJ5. baseline and differential.
GenevisibleiQ9UKJ5. HS.

Family and domain databases

InterProiIPR019383. Golgin_A_7/ERF4.
[Graphical view]
PfamiPF10256. Erf4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13)."
    Cools J., Bilhou-Nabera C., Wlodarska I., Cabrol C., Talmant P., Bernard P., Hagemeijer A., Marynen P.
    Blood 94:1820-1824(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH ETV6.
  2. "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].
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
    Tissue: Skin.
  5. "A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif."
    Cools J., Mentens N., Marynen P.
    FEBS Lett. 492:204-209(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF 88-CYS--CYS-95, PALMITOYLATION.

Entry informationi

Entry nameiCHIC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKJ5
Secondary accession number(s): B2R639
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 1, 2000
Last modified: June 8, 2016
This is version 110 of the entry and version 1 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 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

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.