LMAN2L

Protein identityUniProt · HPA

UniProt accession

Q9H0V9

Gene

LMAN2L

Ensembl

ENSG00000114988

Chromosome

2

Canonical length

348 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

348 residues, UniProt reviewed canonical sequence.

>Q9H0V9|LMAN2L
     1  MAATLGPLGS WQQWRRCLSA RDGSRMLLLL LLLGSGQGPQ QVGAGQTFEY LKREHSLSKP
    61  YQGVGTGSSS LWNLMGNAMV MTQYIRLTPD MQSKQGALWN RVPCFLRDWE LQVHFKIHGQ
   121  GKKNLHGDGL AIWYTKDRMQ PGPVFGNMDK FVGLGVFVDT YPNEEKQQER VFPYISAMVN
   181  NGSLSYDHER DGRPTELGGC TAIVRNLHYD TFLVIRYVKR HLTIMMDIDG KHEWRDCIEV
   241  PGVRLPRGYY FGTSSITGDL SDNHDVISLK LFELTVERTP EEEKLHRDVF LPSVDNMKLP
   301  EMTAPLPPLS GLALFLIVFF SLVFSVFAIV IGIILYNKWQ EQSRKRFY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMAN2L 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

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

21 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMAN2L.

Disease | AllUniProt

Conditions LMAN2L is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 52 (MRT52) MIM:616887
• Intellectual developmental disorder, autosomal dominant 69 (MRD69) MIM:617863

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 84 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal recessive 52
• Intellectual developmental disorder, autosomal dominant 69

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)

1.3

gnomAD pLI

0

gnomAD missense Z

0.19

DepMap mean gene effect

-0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endoplasmic reticulum to Golgi vesicle-mediated transport
• protein folding
• protein transport

Molecular functions

• D-mannose binding
• metal ion binding

Cellular components

• COPII-coated ER to Golgi transport vesicle
• endoplasmic reticulum membrane
• endoplasmic reticulum-Golgi intermediate compartment
• Golgi apparatus
• Golgi membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Legume-like lectin
• Concanavalin A-like lectin/glucanase domain superfamily
• Intracellular Lectin and Glycoprotein Transporter
• Legume-like lectin family

KeywordsUniProt

• Disulfide bond
• Endoplasmic reticulum
• Glycoprotein
• Golgi apparatus
• Intellectual disability
• Lectin
• Membrane
• Metal-binding
• Signal
• Transmembrane
• Transmembrane helix