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Protein

MAM domain-containing protein 2

Gene

MAMDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
MAM domain-containing protein 2
Alternative name(s):
MAM domain-containing proteoglycan
Short name:
Mamcan
Gene namesi
Name:MAMDC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165072.9
HGNCiHGNC:23673 MAMDC2
MIMi612879 gene
neXtProtiNX_Q7Z304

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi256691
OpenTargetsiENSG00000165072
PharmGKBiPA134944739

Polymorphism and mutation databases

BioMutaiMAMDC2
DMDMi311033426

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001486219 – 686MAM domain-containing protein 2Add BLAST668

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi134N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi329N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi524N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

O-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ7Z304
PaxDbiQ7Z304
PeptideAtlasiQ7Z304
PRIDEiQ7Z304
ProteomicsDBi68993
68994 [Q7Z304-2]

PTM databases

iPTMnetiQ7Z304
PhosphoSitePlusiQ7Z304

Expressioni

Gene expression databases

BgeeiENSG00000165072
CleanExiHS_MAMDC2
GenevisibleiQ7Z304 HS

Organism-specific databases

HPAiHPA021814
HPA022249

Interactioni

Protein-protein interaction databases

BioGridi129176, 5 interactors
IntActiQ7Z304, 2 interactors
MINTiQ7Z304
STRINGi9606.ENSP00000366387

Structurei

3D structure databases

ProteinModelPortaliQ7Z304
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 169MAM 1PROSITE-ProRule annotationAdd BLAST146
Domaini168 – 329MAM 2PROSITE-ProRule annotationAdd BLAST162
Domaini340 – 498MAM 3PROSITE-ProRule annotationAdd BLAST159
Domaini507 – 666MAM 4PROSITE-ProRule annotationAdd BLAST160

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IF4R Eukaryota
ENOG410ZUUQ LUCA
GeneTreeiENSGT00720000108445
HOGENOMiHOG000247053
HOVERGENiHBG017920
InParanoidiQ7Z304
OMAiHTTGVGY
OrthoDBiEOG091G02W4
PhylomeDBiQ7Z304
TreeFamiTF330345

Family and domain databases

CDDicd06263 MAM, 4 hits
InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR000998 MAM_dom
PfamiView protein in Pfam
PF00629 MAM, 4 hits
PRINTSiPR00020 MAMDOMAIN
SMARTiView protein in SMART
SM00137 MAM, 4 hits
SUPFAMiSSF49899 SSF49899, 4 hits
PROSITEiView protein in PROSITE
PS00740 MAM_1, 2 hits
PS50060 MAM_2, 4 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z304-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLRGVLLAL QALQLAGALD LPAGSCAFEE STCGFDSVLA SLPWILNEEG
60 70 80 90 100
HYIYVDTSFG KQGEKAVLLS PDLQAEEWSC LRLVYQITTS SESLSDPSQL
110 120 130 140 150
NLYMRFEDES FDRLLWSAKE PSDSWLIASL DLQNSSKKFK ILIEGVLGQG
160 170 180 190 200
NTASIALFEI KMTTGYCIEC DFEENHLCGF VNRWNPNVNW FVGGGSIRNV
210 220 230 240 250
HSILPQDHTF KSELGHYMYV DSVYVKHFQE VAQLISPLTT APMAGCLSFY
260 270 280 290 300
YQIQQGNDNV FSLYTRDVAG LYEEIWKADR PGNAAWNLAE VEFSAPYPME
310 320 330 340 350
VIFEVAFNGP KGGYVALDDI SFSPVHCQNQ TELLFSAVEA SCNFEQDLCN
360 370 380 390 400
FYQDKEGPGW TRVKVKPNMY RAGDHTTGLG YYLLANTKFT SQPGYIGRLY
410 420 430 440 450
GPSLPGNLQY CLRFHYAIYG FLKMSDTLAV YIFEENHVVQ EKIWSVLESP
460 470 480 490 500
RGVWMQAEIT FKKPMPTKVV FMSLCKSFWD CGLVALDDIT IQLGSCSSSE
510 520 530 540 550
KLPPPPGECT FEQDECTFTQ EKRNRSSWHR RRGETPTSYT GPKGDHTTGV
560 570 580 590 600
GYYMYIEASH MVYGQKARLL SRPLRGVSGK HCLTFFYHMY GGGTGLLSVY
610 620 630 640 650
LKKEEDSEES LLWRRRGEQS ISWLRALIEY SCERQHQIIF EAIRGVSIRS
660 670 680
DIAIDDVKFQ AGPCGEMEDT TQQSSGYSED LNEIEY
Length:686
Mass (Da):77,556
Last modified:November 2, 2010 - v3
Checksum:iFA343D1521A2963D
GO
Isoform 2 (identifier: Q7Z304-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-553: Missing.

Note: No experimental confirmation available.
Show »
Length:133
Mass (Da):15,293
Checksum:i664306D48D3C5213
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028080294S → N1 PublicationCorresponds to variant dbSNP:rs1998972Ensembl.1
Natural variantiVAR_061318646V → A. Corresponds to variant dbSNP:rs35534839Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0098341 – 553Missing in isoform 2. 1 PublicationAdd BLAST553

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX538309 mRNA Translation: CAD98089.1
AL158153 Genomic DNA No translation available.
AL392044 Genomic DNA No translation available.
BC015417 mRNA Translation: AAH15417.1
BC016383 mRNA Translation: AAH16383.1
BC063634 mRNA Translation: AAH63634.1
CCDSiCCDS6631.1 [Q7Z304-1]
RefSeqiNP_694999.3, NM_153267.4 [Q7Z304-1]
UniGeneiHs.547172
Hs.666569

Genome annotation databases

EnsembliENST00000377182; ENSP00000366387; ENSG00000165072 [Q7Z304-1]
GeneIDi256691
KEGGihsa:256691
UCSCiuc004ahm.3 human [Q7Z304-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMAMC2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z304
Secondary accession number(s): Q5VW47, Q8WX43, Q96BM4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: November 2, 2010
Last modified: June 20, 2018
This is version 123 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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