MPZL2_HUMAN
ID MPZL2_HUMAN Reviewed; 215 AA.
AC O60487; A8K2R1;
DT 27-MAR-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1998, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Myelin protein zero-like protein 2;
DE AltName: Full=Epithelial V-like antigen 1;
DE Flags: Precursor;
GN Name=MPZL2; Synonyms=EVA {ECO:0000303|PubMed:9585423}, EVA1;
GN ORFNames=UNQ606/PRO1192;
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].
RC TISSUE=Liver, and Spleen;
RX PubMed=9585423; DOI=10.1083/jcb.141.4.1061;
RA Guttinger M., Sutti F., Panigada M., Porcellini S., Merati B., Mariani M.,
RA Teesalu T., Consalez G.G., Grassi F.;
RT "Epithelial V-like antigen (EVA), a novel member of the immunoglobulin
RT superfamily, expressed in embryonic epithelia with a potential role as
RT homotypic adhesion molecule in thymus histogenesis.";
RL J. Cell Biol. 141:1061-1071(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Endometrial tumor;
RA Davenport J.W., Neale G.A.M., Goorha R.M.;
RT "Identification of putative target genes involved in LMO2-induced
RT leukemogenesis.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Squamous cell carcinoma;
RA Pietas A., Petersen I., Schluens K., Petersen S.;
RT "Human EVA1 gene which is downregulated in lung carcinoma cells.";
RL Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
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 [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 [8]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-39.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [9]
RP INVOLVEMENT IN DFNB111, VARIANT DFNB111 74-GLN--ASP-215 DEL, VARIANTS
RP TRP-90 AND 182-ARG--ASP-215 DEL, AND TISSUE SPECIFICITY.
RX PubMed=29961571; DOI=10.1016/j.ajhg.2018.05.011;
RA Wesdorp M., Murillo-Cuesta S., Peters T., Celaya A.M., Oonk A.,
RA Schraders M., Oostrik J., Gomez-Rosas E., Beynon A.J., Hartel B.P.,
RA Okkersen K., Koenen H.J.P.M., Weeda J., Lelieveld S., Voermans N.C.,
RA Joosten I., Hoyng C.B., Lichtner P., Kunst H.P.M., Feenstra I.,
RA de Bruijn S.E., Admiraal R.J.C., Yntema H.G., van Wijk E., Del Castillo I.,
RA Serra P., Varela-Nieto I., Pennings R.J.E., Kremer H.;
RT "MPZL2, encoding the epithelial junctional protein myelin protein zero-like
RT 2, is essential for hearing in man and mouse.";
RL Am. J. Hum. Genet. 103:74-88(2018).
RN [10]
RP INVOLVEMENT IN DFNB111.
RX PubMed=29982980; DOI=10.1007/s00439-018-1901-4;
RA Bademci G., Abad C., Incesulu A., Rad A., Alper O., Kolb S.M., Cengiz F.B.,
RA Diaz-Horta O., Silan F., Mihci E., Ocak E., Najafi M., Maroofian R.,
RA Yilmaz E., Nur B.G., Duman D., Guo S., Sant D.W., Wang G., Monje P.V.,
RA Haaf T., Blanton S.H., Vona B., Walz K., Tekin M.;
RT "MPZL2 is a novel gene associated with autosomal recessive nonsyndromic
RT moderate hearing loss.";
RL Hum. Genet. 137:479-486(2018).
CC -!- FUNCTION: Mediates homophilic cell-cell adhesion.
CC -!- INTERACTION:
CC O60487; Q6UWV2: MPZL3; NbExp=3; IntAct=EBI-3906725, EBI-4314854;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Widely expressed. In fetal tissues, highest
CC expression in the inner ear. In adult tissues, highest levels in thymus
CC and lung. {ECO:0000269|PubMed:29961571}.
CC -!- DISEASE: Deafness, autosomal recessive, 111 (DFNB111) [MIM:618145]: A
CC form of non-syndromic, sensorineural deafness characterized by early-
CC onset, moderate to severe hearing loss with no vestibular involvement.
CC Sensorineural deafness results from damage to the neural receptors of
CC the inner ear, the nerve pathways to the brain, or the area of the
CC brain that receives sound information. {ECO:0000269|PubMed:29961571,
CC ECO:0000269|PubMed:29982980}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the myelin P0 protein family. {ECO:0000305}.
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DR EMBL; AF030455; AAC39762.1; -; mRNA.
DR EMBL; AF275945; AAF87240.1; -; mRNA.
DR EMBL; AF304447; AAG23183.1; -; mRNA.
DR EMBL; AY359061; AAQ89420.1; -; mRNA.
DR EMBL; AK290326; BAF83015.1; -; mRNA.
DR EMBL; CH471065; EAW67358.1; -; Genomic_DNA.
DR EMBL; BC017774; AAH17774.1; -; mRNA.
DR CCDS; CCDS8393.1; -.
DR RefSeq; NP_005788.1; NM_005797.3.
DR RefSeq; NP_658911.1; NM_144765.2.
DR AlphaFoldDB; O60487; -.
DR SMR; O60487; -.
DR BioGRID; 115500; 21.
DR IntAct; O60487; 4.
DR STRING; 9606.ENSP00000278937; -.
DR GlyConnect; 1528; 11 N-Linked glycans (2 sites).
DR GlyGen; O60487; 2 sites, 11 N-linked glycans (2 sites).
DR iPTMnet; O60487; -.
DR PhosphoSitePlus; O60487; -.
DR BioMuta; MPZL2; -.
DR EPD; O60487; -.
DR jPOST; O60487; -.
DR MassIVE; O60487; -.
DR MaxQB; O60487; -.
DR PaxDb; O60487; -.
DR PeptideAtlas; O60487; -.
DR PRIDE; O60487; -.
DR ProteomicsDB; 49425; -.
DR TopDownProteomics; O60487; -.
DR Antibodypedia; 32443; 259 antibodies from 25 providers.
DR DNASU; 10205; -.
DR Ensembl; ENST00000278937.7; ENSP00000278937.2; ENSG00000149573.9.
DR Ensembl; ENST00000438295.2; ENSP00000408362.2; ENSG00000149573.9.
DR GeneID; 10205; -.
DR KEGG; hsa:10205; -.
DR MANE-Select; ENST00000278937.7; ENSP00000278937.2; NM_005797.4; NP_005788.1.
DR UCSC; uc001psn.4; human.
DR CTD; 10205; -.
DR DisGeNET; 10205; -.
DR GeneCards; MPZL2; -.
DR HGNC; HGNC:3496; MPZL2.
DR HPA; ENSG00000149573; Tissue enhanced (esophagus, urinary bladder).
DR MalaCards; MPZL2; -.
DR MIM; 604873; gene.
DR MIM; 618145; phenotype.
DR neXtProt; NX_O60487; -.
DR OpenTargets; ENSG00000149573; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA162396145; -.
DR VEuPathDB; HostDB:ENSG00000149573; -.
DR eggNOG; ENOG502RYWU; Eukaryota.
DR GeneTree; ENSGT01030000234556; -.
DR HOGENOM; CLU_090350_0_0_1; -.
DR InParanoid; O60487; -.
DR OMA; DVSIIIW; -.
DR OrthoDB; 1214335at2759; -.
DR PhylomeDB; O60487; -.
DR TreeFam; TF331728; -.
DR PathwayCommons; O60487; -.
DR SignaLink; O60487; -.
DR BioGRID-ORCS; 10205; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; MPZL2; human.
DR GenomeRNAi; 10205; -.
DR Pharos; O60487; Tbio.
DR PRO; PR:O60487; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; O60487; protein.
DR Bgee; ENSG00000149573; Expressed in gingival epithelium and 160 other tissues.
DR ExpressionAtlas; O60487; baseline and differential.
DR Genevisible; O60487; HS.
DR GO; GO:0005856; C:cytoskeleton; TAS:ProtInc.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0098609; P:cell-cell adhesion; IBA:GO_Central.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; TAS:ProtInc.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR013106; Ig_V-set.
DR InterPro; IPR029863; MPZL2.
DR InterPro; IPR000920; Myelin_P0-rel.
DR PANTHER; PTHR13869; PTHR13869; 1.
DR PANTHER; PTHR13869:SF21; PTHR13869:SF21; 1.
DR Pfam; PF07686; V-set; 1.
DR PRINTS; PR00213; MYELINP0.
DR SMART; SM00409; IG; 1.
DR SMART; SM00406; IGv; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Cell adhesion; Deafness; Disease variant; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Membrane; Non-syndromic deafness;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..215
FT /note="Myelin protein zero-like protein 2"
FT /id="PRO_0000014756"
FT TOPO_DOM 27..154
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 155..175
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 176..215
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 27..141
FT /note="Ig-like V-type"
FT CARBOHYD 39
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT CARBOHYD 118
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 47..123
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VARIANT 74..215
FT /note="Missing (in DFNB111)"
FT /evidence="ECO:0000269|PubMed:29961571"
FT /id="VAR_081571"
FT VARIANT 90
FT /note="R -> W (found as a heterozygous variant in a patient
FT with non-syndromic hearing impairment; unknown pathological
FT significance; dbSNP:rs187493775)"
FT /evidence="ECO:0000269|PubMed:29961571"
FT /id="VAR_081572"
FT VARIANT 182..215
FT /note="Missing (found as a heterozygous variant in a
FT patient with non-syndromic hearing impairment; unknown
FT pathological significance)"
FT /evidence="ECO:0000269|PubMed:29961571"
FT /id="VAR_081573"
SQ SEQUENCE 215 AA; 24484 MW; 9D19EBA798B5815A CRC64;
MYGKSSTRAV LLLLGIQLTA LWPIAAVEIY TSRVLEAVNG TDARLKCTFS SFAPVGDALT
VTWNFRPLDG GPEQFVFYYH IDPFQPMSGR FKDRVSWDGN PERYDASILL WKLQFDDNGT
YTCQVKNPPD VDGVIGEIRL SVVHTVRFSE IHFLALAIGS ACALMIIIVI VVVLFQHYRK
KRWAERAHKV VEIKSKEEER LNQEKKVSVY LEDTD
