CHIC2_HUMAN
ID CHIC2_HUMAN Reviewed; 165 AA.
AC Q9UKJ5; B2R639;
DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Cysteine-rich hydrophobic domain-containing protein 2;
DE AltName: Full=BrX-like translocated in leukemia;
GN Name=CHIC2; Synonyms=BTL;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND CHROMOSOMAL TRANSLOCATION WITH ETV6.
RX PubMed=10477709;
RA Cools J., Bilhou-Nabera C., Wlodarska I., Cabrol C., Talmant P.,
RA Bernard P., Hagemeijer A., Marynen P.;
RT "Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a
RT t(4;12)(q11-q12;p13).";
RL Blood 94:1820-1824(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP SUBCELLULAR LOCATION, MUTAGENESIS OF 88-CYS--CYS-95, AND PALMITOYLATION.
RX PubMed=11257495; DOI=10.1016/s0014-5793(01)02240-2;
RA Cools J., Mentens N., Marynen P.;
RT "A new family of small, palmitoylated, membrane-associated proteins,
RT characterized by the presence of a cysteine-rich hydrophobic motif.";
RL FEBS Lett. 492:204-209(2001).
CC -!- INTERACTION:
CC Q9UKJ5; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-741528, EBI-10173507;
CC Q9UKJ5; P21549: AGXT; NbExp=3; IntAct=EBI-741528, EBI-727098;
CC Q9UKJ5; Q9Y2T1: AXIN2; NbExp=3; IntAct=EBI-741528, EBI-4400025;
CC Q9UKJ5; Q9BXJ5: C1QTNF2; NbExp=3; IntAct=EBI-741528, EBI-2817707;
CC Q9UKJ5; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-741528, EBI-3866279;
CC Q9UKJ5; Q8NEC5: CATSPER1; NbExp=4; IntAct=EBI-741528, EBI-744545;
CC Q9UKJ5; Q8NA61: CBY2; NbExp=3; IntAct=EBI-741528, EBI-741724;
CC Q9UKJ5; Q01850: CDR2; NbExp=7; IntAct=EBI-741528, EBI-1181367;
CC Q9UKJ5; Q9C0F1: CEP44; NbExp=3; IntAct=EBI-741528, EBI-744115;
CC Q9UKJ5; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-741528, EBI-3867333;
CC Q9UKJ5; O96015: DNAL4; NbExp=3; IntAct=EBI-741528, EBI-742362;
CC Q9UKJ5; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-741528, EBI-744099;
CC Q9UKJ5; P23142-4: FBLN1; NbExp=3; IntAct=EBI-741528, EBI-11956479;
CC Q9UKJ5; Q53SE7: FLJ13057; NbExp=3; IntAct=EBI-741528, EBI-10172181;
CC Q9UKJ5; Q96IK5: GMCL1; NbExp=3; IntAct=EBI-741528, EBI-2548508;
CC Q9UKJ5; P49639: HOXA1; NbExp=4; IntAct=EBI-741528, EBI-740785;
CC Q9UKJ5; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-741528, EBI-2556193;
CC Q9UKJ5; Q6A162: KRT40; NbExp=3; IntAct=EBI-741528, EBI-10171697;
CC Q9UKJ5; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-741528, EBI-11959885;
CC Q9UKJ5; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-741528, EBI-11749135;
CC Q9UKJ5; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-741528, EBI-10172290;
CC Q9UKJ5; P60410: KRTAP10-8; NbExp=6; IntAct=EBI-741528, EBI-10171774;
CC Q9UKJ5; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-741528, EBI-10172052;
CC Q9UKJ5; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-741528, EBI-11953334;
CC Q9UKJ5; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-741528, EBI-14065470;
CC Q9UKJ5; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-741528, EBI-10172511;
CC Q9UKJ5; P26371: KRTAP5-9; NbExp=6; IntAct=EBI-741528, EBI-3958099;
CC Q9UKJ5; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-741528, EBI-11962084;
CC Q9UKJ5; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-741528, EBI-11962058;
CC Q9UKJ5; Q5T751: LCE1C; NbExp=3; IntAct=EBI-741528, EBI-12224199;
CC Q9UKJ5; Q5T754: LCE1F; NbExp=3; IntAct=EBI-741528, EBI-11958008;
CC Q9UKJ5; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-741528, EBI-11973993;
CC Q9UKJ5; Q5TA76: LCE3A; NbExp=3; IntAct=EBI-741528, EBI-9394625;
CC Q9UKJ5; Q5T5A8: LCE3C; NbExp=6; IntAct=EBI-741528, EBI-10245291;
CC Q9UKJ5; Q9BYE3: LCE3D; NbExp=3; IntAct=EBI-741528, EBI-6658837;
CC Q9UKJ5; Q5TCM9: LCE5A; NbExp=3; IntAct=EBI-741528, EBI-11955689;
CC Q9UKJ5; P80188: LCN2; NbExp=3; IntAct=EBI-741528, EBI-11911016;
CC Q9UKJ5; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-741528, EBI-741037;
CC Q9UKJ5; P50222: MEOX2; NbExp=3; IntAct=EBI-741528, EBI-748397;
CC Q9UKJ5; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-741528, EBI-16439278;
CC Q9UKJ5; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-741528, EBI-11522433;
CC Q9UKJ5; P13349: MYF5; NbExp=3; IntAct=EBI-741528, EBI-17491620;
CC Q9UKJ5; Q86VE0: MYPOP; NbExp=3; IntAct=EBI-741528, EBI-2858213;
CC Q9UKJ5; P17568: NDUFB7; NbExp=3; IntAct=EBI-741528, EBI-1246238;
CC Q9UKJ5; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-741528, EBI-945833;
CC Q9UKJ5; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-741528, EBI-22310682;
CC Q9UKJ5; P32242: OTX1; NbExp=4; IntAct=EBI-741528, EBI-740446;
CC Q9UKJ5; Q96S99: PLEKHF1; NbExp=3; IntAct=EBI-741528, EBI-745767;
CC Q9UKJ5; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-741528, EBI-742388;
CC Q9UKJ5; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-741528, EBI-949255;
CC Q9UKJ5; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-741528, EBI-302345;
CC Q9UKJ5; Q12837: POU4F2; NbExp=3; IntAct=EBI-741528, EBI-17236143;
CC Q9UKJ5; Q04864-2: REL; NbExp=3; IntAct=EBI-741528, EBI-10829018;
CC Q9UKJ5; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-741528, EBI-748391;
CC Q9UKJ5; O00560: SDCBP; NbExp=3; IntAct=EBI-741528, EBI-727004;
CC Q9UKJ5; P15884: TCF4; NbExp=3; IntAct=EBI-741528, EBI-533224;
CC Q9UKJ5; Q9Y3S2: ZNF330; NbExp=3; IntAct=EBI-741528, EBI-373456;
CC Q9UKJ5; Q96EG3: ZNF837; NbExp=3; IntAct=EBI-741528, EBI-11962574;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11257495}.
CC Cytoplasmic vesicle {ECO:0000269|PubMed:11257495}. Note=Also present at
CC a Golgi-like vesicular compartment and at scattered vesicles.
CC -!- PTM: Palmitoylation in the CHIC motif is required for membrane
CC association. {ECO:0000269|PubMed:11257495}.
CC -!- DISEASE: Note=A chromosomal aberration involving CHIC2 is found in a
CC form of acute myeloid leukemia (AML). Translocation t(4;12)(q12;p13)
CC with ETV6. {ECO:0000269|PubMed:10477709}.
CC -!- SIMILARITY: Belongs to the CHIC family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/CHIC2ID373.html";
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DR EMBL; AF159423; AAD55981.1; -; mRNA.
DR EMBL; AK312427; BAG35336.1; -; mRNA.
DR EMBL; CH471057; EAX05453.1; -; Genomic_DNA.
DR EMBL; BC034691; AAH34691.1; -; mRNA.
DR CCDS; CCDS3493.1; -.
DR RefSeq; NP_036242.1; NM_012110.3.
DR AlphaFoldDB; Q9UKJ5; -.
DR SMR; Q9UKJ5; -.
DR BioGRID; 117716; 70.
DR IntAct; Q9UKJ5; 65.
DR STRING; 9606.ENSP00000263921; -.
DR iPTMnet; Q9UKJ5; -.
DR PhosphoSitePlus; Q9UKJ5; -.
DR SwissPalm; Q9UKJ5; -.
DR BioMuta; CHIC2; -.
DR DMDM; 62901505; -.
DR EPD; Q9UKJ5; -.
DR MassIVE; Q9UKJ5; -.
DR PaxDb; Q9UKJ5; -.
DR PeptideAtlas; Q9UKJ5; -.
DR PRIDE; Q9UKJ5; -.
DR ProteomicsDB; 84809; -.
DR Antibodypedia; 12265; 144 antibodies from 22 providers.
DR DNASU; 26511; -.
DR Ensembl; ENST00000263921.8; ENSP00000263921.3; ENSG00000109220.11.
DR GeneID; 26511; -.
DR KEGG; hsa:26511; -.
DR MANE-Select; ENST00000263921.8; ENSP00000263921.3; NM_012110.4; NP_036242.1.
DR UCSC; uc003haj.3; human.
DR CTD; 26511; -.
DR DisGeNET; 26511; -.
DR GeneCards; CHIC2; -.
DR HGNC; HGNC:1935; CHIC2.
DR HPA; ENSG00000109220; Low tissue specificity.
DR MalaCards; CHIC2; -.
DR MIM; 604332; gene.
DR neXtProt; NX_Q9UKJ5; -.
DR OpenTargets; ENSG00000109220; -.
DR PharmGKB; PA26466; -.
DR VEuPathDB; HostDB:ENSG00000109220; -.
DR eggNOG; KOG4101; Eukaryota.
DR GeneTree; ENSGT00390000003601; -.
DR HOGENOM; CLU_100628_1_0_1; -.
DR InParanoid; Q9UKJ5; -.
DR OMA; MEKLLEW; -.
DR OrthoDB; 1449345at2759; -.
DR PhylomeDB; Q9UKJ5; -.
DR TreeFam; TF314908; -.
DR PathwayCommons; Q9UKJ5; -.
DR SignaLink; Q9UKJ5; -.
DR BioGRID-ORCS; 26511; 19 hits in 1075 CRISPR screens.
DR ChiTaRS; CHIC2; human.
DR GenomeRNAi; 26511; -.
DR Pharos; Q9UKJ5; Tbio.
DR PRO; PR:Q9UKJ5; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9UKJ5; protein.
DR Bgee; ENSG00000109220; Expressed in right testis and 181 other tissues.
DR ExpressionAtlas; Q9UKJ5; baseline and differential.
DR Genevisible; Q9UKJ5; HS.
DR GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl.
DR GO; GO:0005798; C:Golgi-associated vesicle; IBA:GO_Central.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR InterPro; IPR039735; CHIC1/2.
DR InterPro; IPR019383; Golgin_A_7/ERF4.
DR PANTHER; PTHR13005; PTHR13005; 1.
DR Pfam; PF10256; Erf4; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Chromosomal rearrangement; Coiled coil; Cytoplasmic vesicle;
KW Lipoprotein; Membrane; Palmitate; Reference proteome.
FT CHAIN 1..165
FT /note="Cysteine-rich hydrophobic domain-containing protein
FT 2"
FT /id="PRO_0000189556"
FT COILED 1..26
FT /evidence="ECO:0000255"
FT MOTIF 88..106
FT /note="CHIC motif (Cys-rich)"
FT SITE 111..112
FT /note="Breakpoint for translocation to form CHIC2-ETV6 in
FT AML"
FT MUTAGEN 88..95
FT /note="CGCLCCCC->SGSLSSSS: Loss of palmitoylation.
FT Abolishes membrane association."
FT /evidence="ECO:0000269|PubMed:11257495"
SQ SEQUENCE 165 AA; 19254 MW; DC32A9C58524B55E CRC64;
MADFDEIYEE EEDEERALEE QLLKYSPDPV VVRGSGHVTV FGLSNKFESE FPSSLTGKVA
PEEFKASINR VNSCLKKNLP VNVRWLLCGC LCCCCTLGCS MWPVICLSKR TRRSIEKLLE
WENNRLYHKL CLHWRLSKRK CETNNMMEYV ILIEFLPKTP IFRPD
