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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 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 acheiropody and laurin-sandrow syndrome. Among its related pathways are Metabolism and Regulation of cholesterol biosynthesis by SREBP (SREBF). 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMBR1 Gene

Genomics for LMBR1 Gene

Regulatory Elements for LMBR1 Gene

Promoters for LMBR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LMBR1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for LMBR1 Gene at MOPED

Post-translational modifications for LMBR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

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
Jensen Localization Image for LMBR1 Gene COMPARTMENTS Subcellular localization image for LMBR1 gene
Compartment Confidence
plasma membrane 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for LMBR1 Gene

Pathways & Interactions for LMBR1 Gene

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

Interacting Proteins for LMBR1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000326604%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000326604 for LMBR1 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for LMBR1 Gene

None

No data available for 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:

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 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, MOPED, and MaxQB for LMBR1 Gene



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.
genes like me logo Genes that share expression patterns with LMBR1: view

Protein tissue co-expression partners for LMBR1 Gene

Primer Products

In Situ Assay 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 35
  • 99.46 (n)
  • 99.59 (a)
LMBR1 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LMBR1 36
  • 97 (a)
OneToOne
LMBR1 35
  • 90.75 (n)
  • 96.53 (a)
dog
(Canis familiaris)
Mammalia LMBR1 35
  • 94.08 (n)
  • 97.35 (a)
LMBR1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmbr1 16
Lmbr1 35
  • 89.73 (n)
  • 96.12 (a)
Lmbr1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LMBR1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMBR1 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmbr1 35
  • 89.59 (n)
  • 96.73 (a)
chicken
(Gallus gallus)
Aves LMBR1 35
  • 83.02 (n)
  • 92.16 (a)
LMBR1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMBR1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmbr1 35
  • 74.19 (n)
  • 81.57 (a)
zebrafish
(Danio rerio)
Actinopterygii lmbr1 36
  • 79 (a)
OneToOne
lmbr1 35
  • 71.32 (n)
  • 80.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5807 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05D3.2 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5928 36
  • 34 (a)
OneToMany
Species with no ortholog for LMBR1:
  • 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
rs6957768 - 156,762,136(+) TACTG(C/T)TGGCT nc-transcript-variant, reference, missense
rs2870 -- 156,681,567(+) AATAA(A/G)AATCT intron-variant, nc-transcript-variant, utr-variant-3-prime
rs728419 -- 156,884,573(+) cagca(C/T)cccat intron-variant
rs1111467 -- 156,832,685(-) TTTCA(C/T)ATACT intron-variant
rs1558584 -- 156,827,638(-) TCTAT(C/T)TCTAA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv831198 CNV Loss 17160897
nsv6020 CNV Insertion 18451855
esv268871 CNV Insertion 20981092
esv2668849 CNV Deletion 23128226
esv2676333 CNV Deletion 23128226
esv2660160 CNV Deletion 23128226
esv2735651 CNV Deletion 23290073
nsv889568 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
LMBR1
Human Gene Mutation Database (HGMD)
LMBR1

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

Disorders for LMBR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
acheiropody
  • acheiropodia
laurin-sandrow syndrome
  • tetramelic mirror-image polydactyly
syndactyly, type iv
  • syndactyly type 4
polydactyly, preaxial type ii
  • triphalangeal thumb, type i
hypoplastic or aplastic tibia with polydactyly
  • wms
- 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
  • 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}.
  • 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.
  • 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}.
  • 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}.

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 23 67
  2. Intriguing balancing selection on the intron 5 region of LMBR1 in human population. (PMID: 18698406) He F. … Zhang Y.P. (PLoS ONE 2008) 3 23
  3. A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. (PMID: 17300748) Wang Z.Q. … Kong X. (Biochem. Biophys. Res. Commun. 2007) 3 23
  4. 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 23
  5. Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. (PMID: 11606546) Clark R.M. … Kingsley D.M. (Genetics 2001) 3 23

Products for LMBR1 Gene

Sources for LMBR1 Gene

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