LMBR1 (limb development membrane protein 1)

2014-11-01 Affiliation

Identity

HGNC

LMBR1

LOCATION

7q36.3

LOCUSID

64327

ALIAS

ACHP,C7orf2,DIF14,LSS,PPD2,THYP,TPT,ZRS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 64327
MIM: 605522
HGNC: 13243
Ensembl: ENSG00000105983

Variants:

dbSNP: 64327
ClinVar: 64327
TCGA: ENSG00000105983
COSMIC: LMBR1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105983	ENST00000353442	Q8WVP7
ENSG00000105983	ENST00000359422	Q8NDP7
ENSG00000105983	ENST00000414218	F8WCL1
ENSG00000105983	ENST00000415428	H0Y6V6
ENSG00000105983	ENST00000434278	F8WEK4
ENSG00000105983	ENST00000434453	F8WB14
ENSG00000105983	ENST00000434503	F2Z2Z3
ENSG00000105983	ENST00000444719	F8WEN8
ENSG00000105983	ENST00000448926	H7C1Y4
ENSG00000105983	ENST00000454132	F8WDW0
ENSG00000105983	ENST00000638959	A0A1W2PQV9
ENSG00000105983	ENST00000650699	Q8NDP7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
31395945	2020	A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.	10
32179704	2020	Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.	3
32662247	2020	Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.	5
31395945	2020	A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.	10
32179704	2020	Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.	3
32662247	2020	Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.	5
26749485	2016	Novel copy number variants and major limb reduction malformation: Report of three cases.	2
26749485	2016	Novel copy number variants and major limb reduction malformation: Report of three cases.	2
24478176	2014	A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.	8
24777739	2014	A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.	15
24478176	2014	A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.	8
24777739	2014	A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.	15
23793141	2013	Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.	7
23793141	2013	Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.	7
22495965	2012	A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.	19

Citation

Dessen P

LMBR1 (limb development membrane protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/66133