MAMC2_HUMAN
ID MAMC2_HUMAN Reviewed; 686 AA.
AC Q7Z304; Q5VW47; Q8WX43; Q96BM4;
DT 13-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=MAM domain-containing protein 2;
DE AltName: Full=MAM domain-containing proteoglycan;
DE Short=Mamcan;
DE Flags: Precursor;
GN Name=MAMDC2;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASN-294.
RC TISSUE=Duodenum, and Testis;
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).
CC -!- INTERACTION:
CC Q7Z304; Q5JVL4: EFHC1; NbExp=3; IntAct=EBI-8456413, EBI-743105;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z304-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z304-2; Sequence=VSP_009834;
CC -!- PTM: O-glycosylated. {ECO:0000250}.
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DR EMBL; BX538309; CAD98089.1; -; mRNA.
DR EMBL; AL158153; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL392044; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC015417; AAH15417.1; -; mRNA.
DR EMBL; BC016383; AAH16383.1; -; mRNA.
DR EMBL; BC063634; AAH63634.1; -; mRNA.
DR CCDS; CCDS6631.1; -. [Q7Z304-1]
DR RefSeq; NP_694999.3; NM_153267.4. [Q7Z304-1]
DR AlphaFoldDB; Q7Z304; -.
DR SMR; Q7Z304; -.
DR BioGRID; 129176; 12.
DR IntAct; Q7Z304; 6.
DR MINT; Q7Z304; -.
DR STRING; 9606.ENSP00000366387; -.
DR GlyGen; Q7Z304; 3 sites.
DR iPTMnet; Q7Z304; -.
DR PhosphoSitePlus; Q7Z304; -.
DR BioMuta; MAMDC2; -.
DR DMDM; 311033426; -.
DR jPOST; Q7Z304; -.
DR MassIVE; Q7Z304; -.
DR MaxQB; Q7Z304; -.
DR PaxDb; Q7Z304; -.
DR PeptideAtlas; Q7Z304; -.
DR PRIDE; Q7Z304; -.
DR ProteomicsDB; 68993; -. [Q7Z304-1]
DR ProteomicsDB; 68994; -. [Q7Z304-2]
DR Antibodypedia; 12371; 51 antibodies from 11 providers.
DR DNASU; 256691; -.
DR Ensembl; ENST00000377182.5; ENSP00000366387.4; ENSG00000165072.10. [Q7Z304-1]
DR GeneID; 256691; -.
DR KEGG; hsa:256691; -.
DR MANE-Select; ENST00000377182.5; ENSP00000366387.4; NM_153267.5; NP_694999.3.
DR UCSC; uc004ahm.3; human. [Q7Z304-1]
DR CTD; 256691; -.
DR DisGeNET; 256691; -.
DR GeneCards; MAMDC2; -.
DR HGNC; HGNC:23673; MAMDC2.
DR HPA; ENSG00000165072; Tissue enhanced (endometrium).
DR MIM; 612879; gene.
DR neXtProt; NX_Q7Z304; -.
DR OpenTargets; ENSG00000165072; -.
DR PharmGKB; PA134944739; -.
DR VEuPathDB; HostDB:ENSG00000165072; -.
DR eggNOG; ENOG502QVDI; Eukaryota.
DR GeneTree; ENSGT00940000156117; -.
DR HOGENOM; CLU_015093_0_0_1; -.
DR InParanoid; Q7Z304; -.
DR OMA; YVRYEDE; -.
DR OrthoDB; 270113at2759; -.
DR PhylomeDB; Q7Z304; -.
DR TreeFam; TF330345; -.
DR PathwayCommons; Q7Z304; -.
DR SignaLink; Q7Z304; -.
DR BioGRID-ORCS; 256691; 9 hits in 1065 CRISPR screens.
DR ChiTaRS; MAMDC2; human.
DR GenomeRNAi; 256691; -.
DR Pharos; Q7Z304; Tdark.
DR PRO; PR:Q7Z304; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q7Z304; protein.
DR Bgee; ENSG00000165072; Expressed in mucosa of stomach and 157 other tissues.
DR Genevisible; Q7Z304; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IEA:InterPro.
DR CDD; cd06263; MAM; 4.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR000998; MAM_dom.
DR Pfam; PF00629; MAM; 4.
DR PRINTS; PR00020; MAMDOMAIN.
DR SMART; SM00137; MAM; 4.
DR SUPFAM; SSF49899; SSF49899; 4.
DR PROSITE; PS00740; MAM_1; 2.
DR PROSITE; PS50060; MAM_2; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; Extracellular matrix; Glycoprotein;
KW Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..686
FT /note="MAM domain-containing protein 2"
FT /id="PRO_0000014862"
FT DOMAIN 24..169
FT /note="MAM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 168..329
FT /note="MAM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 340..498
FT /note="MAM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 507..666
FT /note="MAM 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT REGION 521..543
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 665..686
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 666..680
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 134
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 329
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 524
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..553
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_009834"
FT VARIANT 294
FT /note="S -> N (in dbSNP:rs1998972)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_028080"
FT VARIANT 646
FT /note="V -> A (in dbSNP:rs35534839)"
FT /id="VAR_061318"
SQ SEQUENCE 686 AA; 77556 MW; FA343D1521A2963D CRC64;
MLLRGVLLAL QALQLAGALD LPAGSCAFEE STCGFDSVLA SLPWILNEEG HYIYVDTSFG
KQGEKAVLLS PDLQAEEWSC LRLVYQITTS SESLSDPSQL NLYMRFEDES FDRLLWSAKE
PSDSWLIASL DLQNSSKKFK ILIEGVLGQG NTASIALFEI KMTTGYCIEC DFEENHLCGF
VNRWNPNVNW FVGGGSIRNV HSILPQDHTF KSELGHYMYV DSVYVKHFQE VAQLISPLTT
APMAGCLSFY YQIQQGNDNV FSLYTRDVAG LYEEIWKADR PGNAAWNLAE VEFSAPYPME
VIFEVAFNGP KGGYVALDDI SFSPVHCQNQ TELLFSAVEA SCNFEQDLCN FYQDKEGPGW
TRVKVKPNMY RAGDHTTGLG YYLLANTKFT SQPGYIGRLY GPSLPGNLQY CLRFHYAIYG
FLKMSDTLAV YIFEENHVVQ EKIWSVLESP RGVWMQAEIT FKKPMPTKVV FMSLCKSFWD
CGLVALDDIT IQLGSCSSSE KLPPPPGECT FEQDECTFTQ EKRNRSSWHR RRGETPTSYT
GPKGDHTTGV GYYMYIEASH MVYGQKARLL SRPLRGVSGK HCLTFFYHMY GGGTGLLSVY
LKKEEDSEES LLWRRRGEQS ISWLRALIEY SCERQHQIIF EAIRGVSIRS DIAIDDVKFQ
AGPCGEMEDT TQQSSGYSED LNEIEY
