LMNA

GENERAL INFORMATION

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Gene name

LMNA

Gene description

Lamin A/C

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

10
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous expression in nuclear membrane.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA006660 , CAB004022
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

LMNA (HGNC Symbol)

Synonyms

CMD1A, HGPS, LGMD1B, LMN1, LMNL1, PRO1

Description

Lamin A/C (HGNC Symbol)

Entrez gene summary

The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]

Chromosome

1

Cytoband

q22

Chromosome location (bp)

156082573 - 156140089

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000160789 (version 78.38)

Entrez gene

4000

UniProt

P02545 (UniProt - Evidence at protein level)

neXtProt

NX_P02545

Antibodypedia

LMNA antibodies


PROTEIN BROWSER

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ENST00000347559
 
ENST00000361308
 
ENST00000368297
 
ENST00000368299
 
ENST00000368300
 
ENST00000368301
 
ENST00000448611
 
ENST00000473598
 
ENST00000504687
 
ENST00000508500
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LMNA-001 ENSP00000357283
ENST00000368300
P02545
Show all »
Show » Show » 664 74.1 No 0
LMNA-002 ENSP00000357284
ENST00000368301
P02545
Show all »
Show » Show » 572 65.1 No 0
LMNA-004 ENSP00000357282
ENST00000368299
P02545
Show all »
Show » Show » 614 69.2 No 0
LMNA-006 ENSP00000421821
ENST00000473598
P02545
Show all »
Show » Show » 565 62.9 No 0
LMNA-007 ENSP00000357280
ENST00000368297
Q5TCI8
Show all »
Show » Show » 491 55.8 No 0
LMNA-017 ENSP00000395597
ENST00000448611
P02545
Show all »
Show » Show » 574 63.9 No 0
LMNA-020 ENSP00000424977
ENST00000508500
P02545
Show all »
Show » Show » 260 27.5 No 0
LMNA-028 ENSP00000426535
ENST00000504687
H0YAB0
Show all »
Show » Show » 182 20.8 No 0
LMNA-201 ENSP00000292304
ENST00000347559
P02545
Show all »
Show » Show » 634 70.7 No 0
LMNA-202 ENSP00000355292
ENST00000361308
Q3BDU5
Show all »
Show » Show » 487 55.6 No 0