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LEMD3 LEM domain containing 3 [ Homo sapiens (human) ]

Gene ID: 23592, updated on 13-Feb-2021

Summary

Official Symbol
LEMD3provided by HGNC
Official Full Name
LEM domain containing 3provided by HGNC
Primary source
HGNC:HGNC:28887
See related
Ensembl:ENSG00000174106 MIM:607844
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAN1
Summary
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in testis (RPKM 11.8), bone marrow (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

See LEMD3 in Genome Data Viewer
Location:
12q14.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (65169583..65248355)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65563363..65642135)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene WNT inhibitory factor 1 Neighboring gene RNA, U6 small nuclear 166, pseudogene Neighboring gene apolipoprotein O pseudogene 3 Neighboring gene methionine sulfoxide reductase B3 Neighboring gene keratin 18 pseudogene 60 Neighboring gene uncharacterized LOC100507065 Neighboring gene uncharacterized LOC105369809

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dermatofibrosis lenticularis disseminata
MedGen: C0265514 OMIM: 166700 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-10-19)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-19)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
inner nuclear membrane protein Man1
Names
LEM domain-containing protein 3
LEMD3/MKX fusion
MAN antigen 1
integral inner nuclear membrane protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016210.2 RefSeqGene

    Range
    5013..83785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167614.2NP_001161086.1  inner nuclear membrane protein Man1 isoform 2

    See identical proteins and their annotated locations for NP_001161086.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AF112299, AK312473, BX390128
    UniProtKB/Swiss-Prot
    Q9Y2U8
    Conserved Domains (3) summary
    cd12286
    Location:784875
    RRM_Man1; RNA recognition motif in inner nuclear membrane protein Man1 (Man1) and similar proteins
    pfam09402
    Location:535747
    MSC; Man1-Src1p-C-terminal domain
    cl02649
    Location:951
    LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
  2. NM_014319.5NP_055134.2  inner nuclear membrane protein Man1 isoform 1

    See identical proteins and their annotated locations for NP_055134.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF112299, AK312473, BX390128
    Consensus CDS
    CCDS8972.1
    UniProtKB/Swiss-Prot
    Q9Y2U8
    UniProtKB/TrEMBL
    A0A024RBB9
    Related
    ENSP00000308369.2, ENST00000308330.3
    Conserved Domains (3) summary
    cd12286
    Location:785876
    RRM_Man1; RNA recognition motif in inner nuclear membrane protein Man1 (Man1) and similar proteins
    pfam09402
    Location:538748
    MSC; Man1-Src1p-C-terminal domain
    cl02649
    Location:951
    LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    65169583..65248355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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