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 28-JAN-2026, entry version 162. 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="https://atlasgeneticsoncology.org/gene/373/CHIC2"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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_012110.4. DR PDB; 8SUV; X-ray; 1.63 A; F/G/H/I=154-165. DR PDBsum; 8SUV; -. DR AlphaFoldDB; Q9UKJ5; -. DR SMR; Q9UKJ5; -. DR BioGRID; 117716; 86. DR FunCoup; Q9UKJ5; 1590. DR IntAct; Q9UKJ5; 65. DR STRING; 9606.ENSP00000263921; -. DR iPTMnet; Q9UKJ5; -. DR PhosphoSitePlus; Q9UKJ5; -. DR SwissPalm; Q9UKJ5; -. DR BioMuta; CHIC2; -. DR DMDM; 62901505; -. DR jPOST; Q9UKJ5; -. DR MassIVE; Q9UKJ5; -. DR PaxDb; 9606-ENSP00000263921; -. DR PeptideAtlas; Q9UKJ5; -. DR ProteomicsDB; 84809; -. DR Antibodypedia; 12265; 137 antibodies from 22 providers. DR DNASU; 26511; -. DR Ensembl; ENST00000263921.8; ENSP00000263921.3; ENSG00000109220.12. 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 AGR; HGNC:1935; -. DR ClinPGx; PA26466; -. 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 OpenTargets; ENSG00000109220; -. DR VEuPathDB; HostDB:ENSG00000109220; -. DR eggNOG; KOG4101; Eukaryota. DR GeneTree; ENSGT00390000003601; -. DR HOGENOM; CLU_100628_1_0_1; -. DR InParanoid; Q9UKJ5; -. DR OMA; EKCLDHE; -. DR OrthoDB; 67682at2759; -. DR PAN-GO; Q9UKJ5; 2 GO annotations based on evolutionary models. DR PhylomeDB; Q9UKJ5; -. DR PathwayCommons; Q9UKJ5; -. DR SignaLink; Q9UKJ5; -. DR Agora; ENSG00000109220; -. DR BioGRID-ORCS; 26511; 21 hits in 1156 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 183 other cell types or tissues. DR ExpressionAtlas; Q9UKJ5; baseline and differential. DR GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl. DR GO; GO:0005798; C:Golgi-associated vesicle; IBA:GO_Central. DR GO; GO:0005886; C:plasma membrane; IDA:HPA. DR InterPro; IPR039735; CHIC1/2. DR InterPro; IPR019383; Golgin_A_7/ERF4. DR PANTHER; PTHR13005; CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN BRAIN X-LINKED PROTEIN; 1. DR PANTHER; PTHR13005:SF3; CYSTEINE-RICH HYDROPHOBIC DOMAIN-CONTAINING PROTEIN 2; 1. DR Pfam; PF10256; Erf4; 1. PE 1: Evidence at protein level; KW 3D-structure; Cell membrane; Chromosomal rearrangement; Coiled coil; KW Cytoplasmic vesicle; Lipoprotein; Membrane; Palmitate; KW Proteomics identification; 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 //