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Protein

Protein mab-21-like 2

Gene

MAB21L2

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

Functioni

Required for several aspects of embryonic development including normal development of the eye.2 Publications

GO - Biological processi

  • camera-type eye development Source: Ensembl
  • embryonic body morphogenesis Source: Ensembl
  • eye development Source: UniProtKB
  • nervous system development Source: ProtInc
  • positive regulation of cell proliferation Source: Ensembl

Keywordsi

Molecular functionDevelopmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Protein mab-21-like 2
Gene namesi
Name:MAB21L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000181541.5
HGNCiHGNC:6758 MAB21L2
MIMi604357 gene
neXtProtiNX_Q9Y586

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients.
See also OMIM:615877
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07183149E → K in MCSKS; complete loss of ssRNA-binding activity with the variant protein; shows a higher stability than wild-type in tetracycline-inducible cells. 1 PublicationCorresponds to variant dbSNP:rs587777513EnsemblClinVar.1
Natural variantiVAR_07183251R → C in MCSKS; complete loss of ssRNA-binding activity with the variant protein; shows a higher stability than wild-type in tetracycline-inducible cells. 1 PublicationCorresponds to variant dbSNP:rs587777512EnsemblClinVar.1
Natural variantiVAR_07905351R → G in MCSKS; Decreased stability; does not affect subcellular localization. 1 Publication1
Natural variantiVAR_07183351R → H in MCSKS; complete loss of ssRNA-binding activity with the variant protein; shows a higher stability than wild-type in tetracycline-inducible cells. 1 PublicationCorresponds to variant dbSNP:rs587777511EnsemblClinVar.1
Natural variantiVAR_071834247R → Q in MCSKS; complete loss of ssRNA-binding activity with the variant protein. 1 PublicationCorresponds to variant dbSNP:rs587777514EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi10586
MalaCardsiMAB21L2
MIMi615877 phenotype
OpenTargetsiENSG00000181541
Orphaneti424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome
PharmGKBiPA30517

Polymorphism and mutation databases

BioMutaiMAB21L2
DMDMi74735281

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003127871 – 359Protein mab-21-like 2Add BLAST359

Proteomic databases

EPDiQ9Y586
PaxDbiQ9Y586
PeptideAtlasiQ9Y586
PRIDEiQ9Y586
ProteomicsDBi86315

PTM databases

iPTMnetiQ9Y586
PhosphoSitePlusiQ9Y586

Expressioni

Gene expression databases

BgeeiENSG00000181541 Expressed in 112 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_MAB21L2
GenevisibleiQ9Y586 HS

Organism-specific databases

HPAiHPA049324
HPA059864

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi115835, 15 interactors
IntActiQ9Y586, 14 interactors
STRINGi9606.ENSP00000324701

Structurei

3D structure databases

ProteinModelPortaliQ9Y586
SMRiQ9Y586
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the mab-21 family.Curated

Phylogenomic databases

eggNOGiKOG3963 Eukaryota
ENOG410XNRJ LUCA
GeneTreeiENSGT00510000046791
HOGENOMiHOG000007337
HOVERGENiHBG053080
InParanoidiQ9Y586
OMAiNLLLYEC
OrthoDBiEOG091G0939
PhylomeDBiQ9Y586
TreeFamiTF315012

Family and domain databases

InterProiView protein in InterPro
IPR024810 Mab-21_dom
IPR020950 Mab21/Mab21-l2
IPR000772 Ricin_B_lectin
PANTHERiPTHR10656:SF37 PTHR10656:SF37, 1 hit
PfamiView protein in Pfam
PF03281 Mab-21, 1 hit
SMARTiView protein in SMART
SM01265 Mab-21, 1 hit

Sequencei

Sequence statusi: Complete.

Q9Y586-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIAAQAKLVY QLNKYYTERC QARKAAIAKT IREVCKVVSD VLKEVEVQEP
60 70 80 90 100
RFISSLSEID ARYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL
110 120 130 140 150
KLSDGRKRSM SLWVEFITAS GYLSARKIRS RFQTLVAQAV DKCSYRDVVK
160 170 180 190 200
MIADTSEVKL RIRERYVVQI TPAFKCTGIW PRSAAQWPMP HIPWPGPNRV
210 220 230 240 250
AEVKAEGFNL LSKECYSLTG KQSSAESDAW VLQFGEAENR LLMGGCRNKC
260 270 280 290 300
LSVLKTLRDR HLELPGQPLN NYHMKTLLLY ECEKHPRETD WDESCLGDRL
310 320 330 340 350
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALESAAK QTWRLAREIL

TNPKSLDKL
Length:359
Mass (Da):40,923
Last modified:November 1, 1999 - v1
Checksum:i24AFD8AF1600C1AA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti235G → V in AAG09800 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07183149E → K in MCSKS; complete loss of ssRNA-binding activity with the variant protein; shows a higher stability than wild-type in tetracycline-inducible cells. 1 PublicationCorresponds to variant dbSNP:rs587777513EnsemblClinVar.1
Natural variantiVAR_07183251R → C in MCSKS; complete loss of ssRNA-binding activity with the variant protein; shows a higher stability than wild-type in tetracycline-inducible cells. 1 PublicationCorresponds to variant dbSNP:rs587777512EnsemblClinVar.1
Natural variantiVAR_07905351R → G in MCSKS; Decreased stability; does not affect subcellular localization. 1 Publication1
Natural variantiVAR_07183351R → H in MCSKS; complete loss of ssRNA-binding activity with the variant protein; shows a higher stability than wild-type in tetracycline-inducible cells. 1 PublicationCorresponds to variant dbSNP:rs587777511EnsemblClinVar.1
Natural variantiVAR_071834247R → Q in MCSKS; complete loss of ssRNA-binding activity with the variant protein. 1 PublicationCorresponds to variant dbSNP:rs587777514EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155219 Genomic DNA Translation: AAD40248.1
AF262032 mRNA Translation: AAG09800.1
AF370007 mRNA Translation: AAK54206.1
AK055665 mRNA Translation: BAG51549.1
BC009983 mRNA Translation: AAH09983.1
CCDSiCCDS3774.1
RefSeqiNP_006430.1, NM_006439.4
UniGeneiHs.584852

Genome annotation databases

EnsembliENST00000317605; ENSP00000324701; ENSG00000181541
GeneIDi10586
KEGGihsa:10586
UCSCiuc003ilw.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155219 Genomic DNA Translation: AAD40248.1
AF262032 mRNA Translation: AAG09800.1
AF370007 mRNA Translation: AAK54206.1
AK055665 mRNA Translation: BAG51549.1
BC009983 mRNA Translation: AAH09983.1
CCDSiCCDS3774.1
RefSeqiNP_006430.1, NM_006439.4
UniGeneiHs.584852

3D structure databases

ProteinModelPortaliQ9Y586
SMRiQ9Y586
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115835, 15 interactors
IntActiQ9Y586, 14 interactors
STRINGi9606.ENSP00000324701

PTM databases

iPTMnetiQ9Y586
PhosphoSitePlusiQ9Y586

Polymorphism and mutation databases

BioMutaiMAB21L2
DMDMi74735281

Proteomic databases

EPDiQ9Y586
PaxDbiQ9Y586
PeptideAtlasiQ9Y586
PRIDEiQ9Y586
ProteomicsDBi86315

Protocols and materials databases

DNASUi10586
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317605; ENSP00000324701; ENSG00000181541
GeneIDi10586
KEGGihsa:10586
UCSCiuc003ilw.4 human

Organism-specific databases

CTDi10586
DisGeNETi10586
EuPathDBiHostDB:ENSG00000181541.5
GeneCardsiMAB21L2
HGNCiHGNC:6758 MAB21L2
HPAiHPA049324
HPA059864
MalaCardsiMAB21L2
MIMi604357 gene
615877 phenotype
neXtProtiNX_Q9Y586
OpenTargetsiENSG00000181541
Orphaneti424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome
PharmGKBiPA30517
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3963 Eukaryota
ENOG410XNRJ LUCA
GeneTreeiENSGT00510000046791
HOGENOMiHOG000007337
HOVERGENiHBG053080
InParanoidiQ9Y586
OMAiNLLLYEC
OrthoDBiEOG091G0939
PhylomeDBiQ9Y586
TreeFamiTF315012

Miscellaneous databases

GenomeRNAii10586
PROiPR:Q9Y586
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181541 Expressed in 112 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_MAB21L2
GenevisibleiQ9Y586 HS

Family and domain databases

InterProiView protein in InterPro
IPR024810 Mab-21_dom
IPR020950 Mab21/Mab21-l2
IPR000772 Ricin_B_lectin
PANTHERiPTHR10656:SF37 PTHR10656:SF37, 1 hit
PfamiView protein in Pfam
PF03281 Mab-21, 1 hit
SMARTiView protein in SMART
SM01265 Mab-21, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMB212_HUMAN
AccessioniPrimary (citable) accession number: Q9Y586
Secondary accession number(s): B3KP37, Q9HBA7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 120 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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