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Aliases for LMBR1 Gene

Aliases for LMBR1 Gene

  • Limb Development Membrane Protein 1 2 3 5
  • Differentiation-Related Gene 14 Protein 3 4
  • C7orf2 3 4
  • DIF14 3 4
  • Chromosome 7 Open Reading Frame 2 2
  • Limb Region 1 Homolog (Mouse) 2
  • Limb Region 1 Protein Homolog 3
  • Limb Region 1 Homolog 3
  • ACHP 3
  • PPD2 3
  • THYP 3
  • LSS 3
  • TPT 3
  • ZRS 3

External Ids for LMBR1 Gene

Previous HGNC Symbols for LMBR1 Gene

  • C7orf2

Previous GeneCards Identifiers for LMBR1 Gene

  • GC07M155974
  • GC07M156166
  • GC07M156473
  • GC07M150206
  • GC07M156468

Summaries for LMBR1 Gene

Entrez Gene Summary for LMBR1 Gene

  • This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

GeneCards Summary for LMBR1 Gene

LMBR1 (Limb Development Membrane Protein 1) is a Protein Coding gene. Diseases associated with LMBR1 include Polydactyly, Preaxial Type Ii and Acheiropody. An important paralog of this gene is LMBR1L.

UniProtKB/Swiss-Prot for LMBR1 Gene

  • Putative membrane receptor.

Gene Wiki entry for LMBR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMBR1 Gene

Genomics for LMBR1 Gene

Regulatory Elements for LMBR1 Gene

Enhancers for LMBR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G156908 1.2 Ensembl ENCODE 6.5 -15.9 -15867 0.6 HDGF ATF1 ARID4B SIN3A ZNF2 ZNF48 GLIS2 CBX5 ZNF143 ZNF263 NOM1 LMBR1 C7orf13 LINC01006 LOC102723795 LOC105375604
GH07G156891 1.1 ENCODE 6.6 +0.2 204 2.9 HDGF CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 NOM1 C7orf13 LMBR1 RNU4-31P
GH07G156931 0.8 ENCODE 7.3 -38.9 -38895 1.8 SOX13 PKNOX1 AGO1 JUN RAD21 YY1 GATA2 ZNF366 SCRT2 FOS MNX1-AS2 MNX1 MNX1-AS1 NOM1 LMBR1 LOC105375604 LOC102723795
GH07G156722 1 dbSUPER 4.9 +168.7 168713 3.1 FOXA2 PKNOX1 ARID4B YY1 TCF12 MXD4 PPARG KAT8 NFIL3 MIER3 RNF32 LINC01006 NOM1 LMBR1 GC07M156670 GC07P156873
GH07G156886 0.8 ENCODE 0.4 +6.9 6883 0.6 HDAC1 CBX3 RB1 TBL1XR1 ARNT FEZF1 CHAMP1 TCF12 CBX5 GATA2 LMBR1 RNU4-31P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LMBR1 on UCSC Golden Path with GeneCards custom track

Promoters for LMBR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000220160 130 2601 HDGF CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for LMBR1 Gene

Chromosome:
7
Start:
156,668,946 bp from pter
End:
156,893,230 bp from pter
Size:
224,285 bases
Orientation:
Minus strand

Genomic View for LMBR1 Gene

Genes around LMBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMBR1 Gene

Proteins for LMBR1 Gene

  • Protein details for LMBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVP7-LMBR1_HUMAN
    Recommended name:
    Limb region 1 protein homolog
    Protein Accession:
    Q8WVP7
    Secondary Accessions:
    • A4D242
    • Q8N3E3
    • Q96QZ5
    • Q9H5N0
    • Q9HAG9
    • Q9UDN5
    • Q9Y6U2

    Protein attributes for LMBR1 Gene

    Size:
    490 amino acids
    Molecular mass:
    55098 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD43188.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK31345.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15595.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LMBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMBR1 Gene

Post-translational modifications for LMBR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LMBR1 Gene

Domains & Families for LMBR1 Gene

Protein Domains for LMBR1 Gene

Suggested Antigen Peptide Sequences for LMBR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WVP7

UniProtKB/Swiss-Prot:

LMBR1_HUMAN :
  • Belongs to the LIMR family.
Family:
  • Belongs to the LIMR family.
genes like me logo Genes that share domains with LMBR1: view

No data available for Gene Families for LMBR1 Gene

Function for LMBR1 Gene

Molecular function for LMBR1 Gene

UniProtKB/Swiss-Prot Function:
Putative membrane receptor.
genes like me logo Genes that share phenotypes with LMBR1: view

Human Phenotype Ontology for LMBR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMBR1 Gene

MGI Knock Outs for LMBR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for LMBR1 Gene

Localization for LMBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMBR1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMBR1 gene
Compartment Confidence
plasma membrane 4
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for LMBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LMBR1: view

Pathways & Interactions for LMBR1 Gene

SuperPathways for LMBR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LMBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042733 embryonic digit morphogenesis IEA --
genes like me logo Genes that share ontologies with LMBR1: view

No data available for Pathways by source and SIGNOR curated interactions for LMBR1 Gene

Drugs & Compounds for LMBR1 Gene

No Compound Related Data Available

Transcripts for LMBR1 Gene

Unigene Clusters for LMBR1 Gene

Limb region 1 homolog (mouse):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LMBR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - -
SP6:
SP7:
SP8: - - - - - - - - - -
SP9: - - - - - - - -
SP10: - -

ExUns: 19a · 19b ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for LMBR1 Gene

GeneLoc Exon Structure for
LMBR1
ECgene alternative splicing isoforms for
LMBR1

Expression for LMBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LMBR1 Gene

Protein differential expression in normal tissues from HIPED for LMBR1 Gene

This gene is overexpressed in Adrenal (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LMBR1 Gene



Protein tissue co-expression partners for LMBR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LMBR1 Gene:

LMBR1

SOURCE GeneReport for Unigene cluster for LMBR1 Gene:

Hs.209989

mRNA Expression by UniProt/SwissProt for LMBR1 Gene:

Q8WVP7-LMBR1_HUMAN
Tissue specificity: Widely expressed with strongest expression in heart and pancreas.

Evidence on tissue expression from TISSUES for LMBR1 Gene

  • Nervous system(4.9)
  • Lung(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMBR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • face
  • head
  • nose
  • skull
Thorax:
  • clavicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
genes like me logo Genes that share expression patterns with LMBR1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LMBR1 Gene

Orthologs for LMBR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMBR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMBR1 34 35
  • 99.46 (n)
oppossum
(Monodelphis domestica)
Mammalia LMBR1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMBR1 34 35
  • 94.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LMBR1 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LMBR1 34 35
  • 90.75 (n)
mouse
(Mus musculus)
Mammalia Lmbr1 34 16 35
  • 89.73 (n)
rat
(Rattus norvegicus)
Mammalia Lmbr1 34
  • 89.59 (n)
chicken
(Gallus gallus)
Aves LMBR1 34 35
  • 83.02 (n)
lizard
(Anolis carolinensis)
Reptilia LMBR1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmbr1 34
  • 74.19 (n)
zebrafish
(Danio rerio)
Actinopterygii lmbr1 34 35
  • 71.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5807 35
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05D3.2 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5928 35
  • 34 (a)
OneToMany
Species where no ortholog for LMBR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMBR1 Gene

ENSEMBL:
Gene Tree for LMBR1 (if available)
TreeFam:
Gene Tree for LMBR1 (if available)

Paralogs for LMBR1 Gene

Paralogs for LMBR1 Gene

genes like me logo Genes that share paralogs with LMBR1: view

Variants for LMBR1 Gene

Sequence variations from dbSNP and Humsavar for LMBR1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs587779752 Pathogenic 156,791,474(-) TTGTA(C/T)TGTAT intron-variant
rs606231146 Pathogenic 156,791,771(-) CAGAG(C/G)GTAGC intron-variant
rs606231147 Pathogenic 156,791,472(-) GTACT(A/G)TATTT intron-variant
rs606231148 Pathogenic 156,791,571(-) GAGGA(A/T)CAAAG intron-variant
rs606231149 Pathogenic 156,791,547(-) GTTTC(C/T)ATCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LMBR1 Gene

Variant ID Type Subtype PubMed ID
esv2660160 CNV deletion 23128226
esv2668849 CNV deletion 23128226
esv2676333 CNV deletion 23128226
esv2735651 CNV deletion 23290073
esv3304593 CNV mobile element insertion 20981092
esv3337565 CNV insertion 20981092
esv3391203 CNV insertion 20981092
esv3436373 CNV insertion 20981092
esv3542770 CNV deletion 23714750
esv3572366 CNV loss 25503493
esv3615674 CNV loss 21293372
esv3615676 CNV loss 21293372
esv3615678 CNV loss 21293372
esv3615679 CNV loss 21293372
nsv1145171 CNV deletion 24896259
nsv473253 CNV novel sequence insertion 20440878
nsv6020 CNV insertion 18451855
nsv609209 CNV gain 21841781
nsv831198 CNV loss 17160897

Variation tolerance for LMBR1 Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LMBR1 Gene

Human Gene Mutation Database (HGMD)
LMBR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMBR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMBR1 Gene

Disorders for LMBR1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for LMBR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polydactyly, preaxial type ii
  • triphalangeal thumb, type i
acheiropody
  • acheiropodia
laurin-sandrow syndrome
  • fibula ulna duplication tibia radius absence
syndactyly, type iv
  • syndactyly type 4
hypoplastic or aplastic tibia with polydactyly
  • tibia, hypoplasia or aplasia of, with polydactyly
- elite association - COSMIC cancer census association via MalaCards
Search LMBR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LMBR1_HUMAN
  • Acheiropody (ACHP) [MIM:200500]: Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. {ECO:0000269 PubMed:11090342}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypoplasia or aplasia of tibia with polydactyly (THYP) [MIM:188740]: An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. {ECO:0000269 PubMed:19847792, ECO:0000269 PubMed:24777739, ECO:0000269 PubMed:24965254}. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5. {ECO:0000269 PubMed:19847792, ECO:0000269 PubMed:24777739, ECO:0000269 PubMed:24965254}.
  • Laurin-Sandrow syndrome (LSS) [MIM:135750]: A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). {ECO:0000269 PubMed:24456159}. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations consists of duplications (16-75 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269 PubMed:24456159}.
  • Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. {ECO:0000269 PubMed:12837695}. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5, known as ZPA regulatory sequence (ZRS). {ECO:0000269 PubMed:12837695}.
  • Syndactyly 4 (SDTY4) [MIM:186200]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. {ECO:0000269 PubMed:18417549, ECO:0000269 PubMed:24456159}. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations consists of duplications (89-589 kb) involving the ZPA regulatory sequence (ZRS), a SHH long-range cis-regulatory element, located in LMBR1 intron 5. The mutations do not alter normal LMBR1 expression and function, but affect SHH limb expression. {ECO:0000269 PubMed:24456159}.

Relevant External Links for LMBR1

Genetic Association Database (GAD)
LMBR1
Human Genome Epidemiology (HuGE) Navigator
LMBR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMBR1
genes like me logo Genes that share disorders with LMBR1: view

No data available for Genatlas for LMBR1 Gene

Publications for LMBR1 Gene

  1. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. (PMID: 11090342) Ianakiev P. … Tsipouras P. (Am. J. Hum. Genet. 2001) 2 3 4 22 64
  2. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. (PMID: 12837695) Lettice L.A. … de Graaff E. (Hum. Mol. Genet. 2003) 3 4 22 64
  3. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (PMID: 10329000) Heus H.C. … Heutink P. (Genomics 1999) 2 3 4 64
  4. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. (PMID: 24777739) VanderMeer J.E. … Ahituv N. (Hum. Mutat. 2014) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for LMBR1 Gene

Sources for LMBR1 Gene

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