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Protein

Protein mab-21-like 2

Gene

MAB21L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Required for several aspects of embryonic development including normal development of the eye.1 Publication

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

HGNCiHGNC:6758. MAB21L2.

Subcellular locationi

  • Nucleus By similarity

GO - Cellular componenti

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, syndromic, 14 (MCOPS14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS14 patients exhibit bilateral colobomatous microphthalmia or bilateral anophthalmia. Intellectual disability and rhizomelic skeletal dysplasia is present in some affected individuals.
See also OMIM:615877
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07183149E → K in MCOPS14; 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:rs587777513Ensembl.1
Natural variantiVAR_07183251R → C in MCOPS14; 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:rs587777512Ensembl.1
Natural variantiVAR_07183351R → H in MCOPS14; 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:rs587777511Ensembl.1
Natural variantiVAR_071834247R → Q in MCOPS14; complete loss of ssRNA-binding activity with the variant protein. 1 PublicationCorresponds to variant dbSNP:rs587777514Ensembl.1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi10586.
MalaCardsiMAB21L2.
MIMi615877. phenotype.
OpenTargetsiENSG00000181541.
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

PaxDbiQ9Y586.
PeptideAtlasiQ9Y586.
PRIDEiQ9Y586.

PTM databases

iPTMnetiQ9Y586.
PhosphoSitePlusiQ9Y586.

Expressioni

Gene expression databases

BgeeiENSG00000181541.
CleanExiHS_MAB21L2.
GenevisibleiQ9Y586. HS.

Organism-specific databases

HPAiHPA049324.
HPA059864.

Interactioni

Binary interactionsi

Show more details

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.
OMAiWDESCIA.
OrthoDBiEOG091G0939.
PhylomeDBiQ9Y586.
TreeFamiTF315012.

Family and domain databases

InterProiView protein in InterPro
IPR020950. Mab-21-like_1/2.
IPR024810. Mab-21_dom.
IPR000772. Ricin_B_lectin.
PANTHERiPTHR10656:SF64. PTHR10656:SF64. 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 MCOPS14; 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:rs587777513Ensembl.1
Natural variantiVAR_07183251R → C in MCOPS14; 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:rs587777512Ensembl.1
Natural variantiVAR_07183351R → H in MCOPS14; 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:rs587777511Ensembl.1
Natural variantiVAR_071834247R → Q in MCOPS14; complete loss of ssRNA-binding activity with the variant protein. 1 PublicationCorresponds to variant dbSNP:rs587777514Ensembl.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.

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

PaxDbiQ9Y586.
PeptideAtlasiQ9Y586.
PRIDEiQ9Y586.

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.
GeneCardsiMAB21L2.
HGNCiHGNC:6758. MAB21L2.
HPAiHPA049324.
HPA059864.
MalaCardsiMAB21L2.
MIMi604357. gene.
615877. phenotype.
neXtProtiNX_Q9Y586.
OpenTargetsiENSG00000181541.
PharmGKBiPA30517.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3963. Eukaryota.
ENOG410XNRJ. LUCA.
GeneTreeiENSGT00510000046791.
HOGENOMiHOG000007337.
HOVERGENiHBG053080.
InParanoidiQ9Y586.
OMAiWDESCIA.
OrthoDBiEOG091G0939.
PhylomeDBiQ9Y586.
TreeFamiTF315012.

Miscellaneous databases

GenomeRNAii10586.
PROiQ9Y586.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181541.
CleanExiHS_MAB21L2.
GenevisibleiQ9Y586. HS.

Family and domain databases

InterProiView protein in InterPro
IPR020950. Mab-21-like_1/2.
IPR024810. Mab-21_dom.
IPR000772. Ricin_B_lectin.
PANTHERiPTHR10656:SF64. PTHR10656:SF64. 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: March 15, 2017
This is version 111 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. Human chromosome 4
    Human chromosome 4: 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.