MDFI2_HUMAN
ID MDFI2_HUMAN Reviewed; 189 AA.
AC A0A1B0GVS7; A0A0U1T9V0; A0A0U1WUY1;
DT 27-SEP-2017, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2016, sequence version 1.
DT 03-AUG-2022, entry version 21.
DE RecName: Full=MyoD family inhibitor domain-containing protein 2 {ECO:0000305};
GN Name=MDFIC2 {ECO:0000312|HGNC:HGNC:53442};
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] (ISOFORM 2).
RC TISSUE=Spinal ganglion;
RA Habib A.M., Torres J.M., Werdehausen R., Wood J.N., Cox J.J.;
RT "A novel human gene enriched in adult dorsal root ganglia.";
RL Submitted (JAN-2013) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A0A1B0GVS7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A0A1B0GVS7-2; Sequence=VSP_059068;
CC -!- SIMILARITY: Belongs to the MDFI family. {ECO:0000255}.
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; KC470081; AHA59118.1; -; mRNA.
DR EMBL; KC470082; AHA59119.1; -; mRNA.
DR EMBL; AC134025; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_016863108.1; XM_017007619.1.
DR AlphaFoldDB; A0A1B0GVS7; -.
DR BioMuta; MDFIC2; -.
DR Ensembl; ENST00000567252.2; ENSP00000490638.1; ENSG00000242120.4. [A0A1B0GVS7-1]
DR MANE-Select; ENST00000567252.2; ENSP00000490638.1; NM_001364677.1; NP_001351606.1.
DR GeneCards; MDFIC2; -.
DR HGNC; HGNC:53442; MDFIC2.
DR HPA; ENSG00000242120; Not detected.
DR neXtProt; NX_A0A1B0GVS7; -.
DR OpenTargets; ENSG00000242120; -.
DR VEuPathDB; HostDB:ENSG00000242120; -.
DR GeneTree; ENSGT00730000111641; -.
DR OMA; ENHPRND; -.
DR OrthoDB; 1520180at2759; -.
DR BioGRID-ORCS; 107986096; 0 hits in 3 CRISPR screens.
DR ChiTaRS; MDFIC2; human.
DR Pharos; A0A1B0GVS7; Tdark.
DR PRO; PR:A0A1B0GVS7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A0A1B0GVS7; protein.
DR Bgee; ENSG00000242120; Expressed in caudate nucleus and 6 other tissues.
DR InterPro; IPR026134; MDFI/MDFIC.
DR PANTHER; PTHR15304; PTHR15304; 1.
DR Pfam; PF15316; MDFI; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..189
FT /note="MyoD family inhibitor domain-containing protein 2"
FT /id="PRO_0000441412"
FT DOMAIN 28..188
FT /note="MDFI"
FT VAR_SEQ 29
FT /note="E -> EGLSTSILNPLGDP (in isoform 2)"
FT /id="VSP_059068"
FT CONFLICT 141
FT /note="R -> H (in Ref. 1; AHA59118)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 189 AA; 21509 MW; 1E45AE1CC4669BA3 CRC64;
MSETELEKIK VRTAEHLEND KNNISWLKED TQLTNAKHAD EKPINAIVIN SVSDFNITDG
PAKENPNEKK LSESSTSLSS LEECQTTFSY LQTDTSVHHR DTDEECASLI LACLFCQFWD
CLLMLPGTCE TVCTKMCCPS RRYHHTSDEN HSRNDCSCNC DMDCSLFESC HETSECLELA
MEISEICYR