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Protein

Melanoma inhibitory activity protein 2

Gene

MIA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in the pathophysiology of liver disease and may serve as a marker of liver damage.

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Melanoma inhibitory activity protein 2
Gene namesi
Name:MIA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:18432. MIA2.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum exit site Source: MGI
  • extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134870998.

Polymorphism and mutation databases

BioMutaiMIA2.
DMDMi308153584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence analysisAdd
BLAST
Chaini23 – 542520Melanoma inhibitory activity protein 2PRO_0000019031Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi59 – 591N-linked (GlcNAc...)Sequence analysis
Glycosylationi368 – 3681N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96PC5.
MaxQBiQ96PC5.
PaxDbiQ96PC5.
PRIDEiQ96PC5.

PTM databases

iPTMnetiQ96PC5.
PhosphoSiteiQ96PC5.

Expressioni

Tissue specificityi

Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis.

Gene expression databases

BgeeiQ96PC5.
CleanExiHS_MIA2.
ExpressionAtlasiQ96PC5. baseline and differential.
GenevisibleiQ96PC5. HS.

Organism-specific databases

HPAiHPA054066.
HPA055459.

Interactioni

Protein-protein interaction databases

BioGridi125559. 2 interactions.
MINTiMINT-4718523.
STRINGi9606.ENSP00000280082.

Structurei

3D structure databases

ProteinModelPortaliQ96PC5.
SMRiQ96PC5. Positions 26-118.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini23 – 11896SH3Add
BLAST

Sequence similaritiesi

Belongs to the MIA/OTOR family.Curated
Contains 1 SH3 domain.Curated

Keywords - Domaini

SH3 domain, Signal

Phylogenomic databases

eggNOGiENOG410IIF2. Eukaryota.
ENOG41118PB. LUCA.
GeneTreeiENSGT00530000063635.
HOGENOMiHOG000220907.
HOVERGENiHBG049225.
InParanoidiQ96PC5.
OMAiGDLECEX.
PhylomeDBiQ96PC5.
TreeFamiTF332724.

Family and domain databases

InterProiIPR029782. MIA2.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PANTHERiPTHR23158:SF42. PTHR23158:SF42. 1 hit.
PfamiPF07653. SH3_2. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.

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: Q96PC5-1) [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
MAKFGVHRIL LLAISLTKCL ESTKLLADLK KCGDLECEAL INRVSAMRDY
60 70 80 90 100
RGPDCRYLNF TKGEEISVYV KLAGEREDLW AGSKGKEFGY FPRDAVQIEE
110 120 130 140 150
VFISEEIQMS TKESDFLCLL GVSYTFDNED SELNGDYGEN IYPYEEDKDE
160 170 180 190 200
KSSIYESDFQ IEPGFYATYE STLFEDQVPA LEAPEDIGST SESKDWEEVV
210 220 230 240 250
VESMEQDRIP EVHVPPSSAV SGVKEWFGLG GEQAEEKAFE SVIEPVQESS
260 270 280 290 300
FRSRKIAVED ENDLEELNNG EPQTEHQQES ESEIDSVPKT QSELASESEH
310 320 330 340 350
IPKPQSTGWF GGGFTSYLGF GDEDTGLELI AEESNPPLQD FPNSISSDKE
360 370 380 390 400
ATVPCTEILT EKKDTITNDS LSLKPSWFDF GFAILGFAYA KEDKIMLDDR
410 420 430 440 450
KNEEDGGADE HEHPLTSELD PEKEQEIETI KIIETEDQID KKPVSEKTDE
460 470 480 490 500
SDTIPYLKKF LYNFDNPWNF QNIPKETELP FPKQILDQNN VIENEETGEF
510 520 530 540
SIDNYPTDNT KVMIFKSSYS LSGWYENIYI RIYFIFKHNL FL
Length:542
Mass (Da):61,771
Last modified:October 5, 2010 - v3
Checksum:i92D961F76E22D19D
GO
Isoform 2 (identifier: Q96PC5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     523-542: GWYENIYIRIYFIFKHNLFL → DMVSNIELPT...LNIRVATKYV

Note: No experimental confirmation available.
Show »
Length:654
Mass (Da):74,089
Checksum:iD2C7C8DD246107CC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti83 – 831Missing in AAL26990 (PubMed:12586826).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti437 – 4371D → H in a breast cancer sample; somatic mutation. 1 Publication
VAR_036460

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei523 – 54220GWYEN…HNLFL → DMVSNIELPTRIHEEVYFEP SSSKDSDENSKPSVDTEGPA LVEIDRSVENTLLNSQMVST DNSLSSQNYISQKEDASEFQ ILKYLFQIDVYDFMNSAFSP IVILTERVSLPFKPFAIILP ILLNIRVATKYV in isoform 2. 2 PublicationsVSP_009571Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF390175 mRNA. Translation: AAL26990.2.
AL132639 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65818.1.
BC130537 mRNA. Translation: AAI30538.1.
BC130563 mRNA. Translation: AAI30564.1.
AK026057 mRNA. Translation: BAB15339.1.
CCDSiCCDS9672.1. [Q96PC5-2]
RefSeqiNP_473365.3. NM_054024.3. [Q96PC5-2]
UniGeneiHs.287694.

Genome annotation databases

EnsembliENST00000280082; ENSP00000280082; ENSG00000150526. [Q96PC5-2]
GeneIDi117153.
KEGGihsa:117153.
UCSCiuc001wux.4. human. [Q96PC5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF390175 mRNA. Translation: AAL26990.2.
AL132639 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65818.1.
BC130537 mRNA. Translation: AAI30538.1.
BC130563 mRNA. Translation: AAI30564.1.
AK026057 mRNA. Translation: BAB15339.1.
CCDSiCCDS9672.1. [Q96PC5-2]
RefSeqiNP_473365.3. NM_054024.3. [Q96PC5-2]
UniGeneiHs.287694.

3D structure databases

ProteinModelPortaliQ96PC5.
SMRiQ96PC5. Positions 26-118.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125559. 2 interactions.
MINTiMINT-4718523.
STRINGi9606.ENSP00000280082.

PTM databases

iPTMnetiQ96PC5.
PhosphoSiteiQ96PC5.

Polymorphism and mutation databases

BioMutaiMIA2.
DMDMi308153584.

Proteomic databases

EPDiQ96PC5.
MaxQBiQ96PC5.
PaxDbiQ96PC5.
PRIDEiQ96PC5.

Protocols and materials databases

DNASUi117153.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280082; ENSP00000280082; ENSG00000150526. [Q96PC5-2]
GeneIDi117153.
KEGGihsa:117153.
UCSCiuc001wux.4. human. [Q96PC5-1]

Organism-specific databases

CTDi117153.
GeneCardsiMIA2.
H-InvDBHIX0202057.
HGNCiHGNC:18432. MIA2.
HPAiHPA054066.
HPA055459.
MIMi608001. gene.
neXtProtiNX_Q96PC5.
PharmGKBiPA134870998.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIF2. Eukaryota.
ENOG41118PB. LUCA.
GeneTreeiENSGT00530000063635.
HOGENOMiHOG000220907.
HOVERGENiHBG049225.
InParanoidiQ96PC5.
OMAiGDLECEX.
PhylomeDBiQ96PC5.
TreeFamiTF332724.

Miscellaneous databases

GeneWikiiMIA2.
GenomeRNAii117153.
PROiQ96PC5.
SOURCEiSearch...

Gene expression databases

BgeeiQ96PC5.
CleanExiHS_MIA2.
ExpressionAtlasiQ96PC5. baseline and differential.
GenevisibleiQ96PC5. HS.

Family and domain databases

InterProiIPR029782. MIA2.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PANTHERiPTHR23158:SF42. PTHR23158:SF42. 1 hit.
PfamiPF07653. SH3_2. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Specific expression and regulation of the new melanoma inhibitory activity-related gene MIA2 in hepatocytes."
    Bosserhoff A.K., Moser M., Schoelmerich J., Buettner R., Hellerbrand C.
    J. Biol. Chem. 278:15225-15231(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Embryo.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 200-542 (ISOFORM 2).
  6. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-437.

Entry informationi

Entry nameiMIA2_HUMAN
AccessioniPrimary (citable) accession number: Q96PC5
Secondary accession number(s): A1L4H0, Q9H6C1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: October 5, 2010
Last modified: June 8, 2016
This is version 112 of the entry and version 3 of the sequence. [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 14
    Human chromosome 14: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.