MAB21L2

Protein identityUniProt · HPA

UniProt accession

Q9Y586

Gene

MAB21L2

Ensembl

ENSG00000181541

Chromosome

4

Canonical length

359 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

359 residues, UniProt reviewed canonical sequence.

>Q9Y586|MAB21L2
     1  MIAAQAKLVY QLNKYYTERC QARKAAIAKT IREVCKVVSD VLKEVEVQEP RFISSLSEID
    61  ARYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL KLSDGRKRSM SLWVEFITAS
   121  GYLSARKIRS RFQTLVAQAV DKCSYRDVVK MIADTSEVKL RIRERYVVQI TPAFKCTGIW
   181  PRSAAQWPMP HIPWPGPNRV AEVKAEGFNL LSKECYSLTG KQSSAESDAW VLQFGEAENR
   241  LLMGGCRNKC LSVLKTLRDR HLELPGQPLN NYHMKTLLLY ECEKHPRETD WDESCLGDRL
   301  NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALESAAK QTWRLAREIL TNPKSLDKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAB21L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

170 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAB21L2.

Disease | AllUniProt

Conditions MAB21L2 is implicated in, by any mechanism.

• Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) MIM:615877

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 62 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.55

gnomAD pLI

0.44

gnomAD missense Z

2.96

DepMap mean gene effect

0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• camera-type eye development
• cell population proliferation
• embryonic body morphogenesis
• eye development
• nervous system development
• positive regulation of cell population proliferation

Cellular components

• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• MAB21L/Cyclic GMP-AMP synthase-like receptor
• Mab-21-like, nucleotidyltransferase domain
• Mab-21-like, HhH/H2TH-like domain
• Mab-21 protein nucleotidyltransferase domain
• Mab-21 protein HhH/H2TH-like domain

KeywordsUniProt

• Cytoplasm
• Developmental protein
• Microphthalmia
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of MAB21L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TMPO