Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AMN Gene

Aliases for AMN Gene

  • Amnion Associated Transmembrane Protein 2 3 5
  • Visceral Endoderm-Specific Type 1 Transmembrane Protein 3
  • Amnionless Homolog (Mouse) 2
  • Amnionless Homolog 3
  • Amnionless 3
  • PRO1028 3

External Ids for AMN Gene

Previous GeneCards Identifiers for AMN Gene

  • GC14P100780
  • GC14P097204
  • GC14P101379
  • GC14P102458
  • GC14P103388
  • GC14P083564

Summaries for AMN Gene

Entrez Gene Summary for AMN Gene

  • The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]

GeneCards Summary for AMN Gene

AMN (Amnion Associated Transmembrane Protein) is a Protein Coding gene. Diseases associated with AMN include Megaloblastic Anemia-1, Finnish Type and Adrenoleukodystrophy. Among its related pathways are Diseases of metabolism and Defective AMN causes hereditary megaloblastic anemia 1. GO annotations related to this gene include receptor binding.

UniProtKB/Swiss-Prot for AMN Gene

  • Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity).

Gene Wiki entry for AMN Gene

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

Genomics for AMN Gene

Regulatory Elements for AMN Gene

Enhancers for AMN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AMN on UCSC Golden Path with GeneCards custom track

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

ENSRs around AMN on UCSC Golden Path with GeneCards custom track

Genomic Location for AMN Gene

Chromosome:
14
Start:
102,922,548 bp from pter
End:
102,933,596 bp from pter
Size:
11,049 bases
Orientation:
Plus strand

Genomic View for AMN Gene

Genes around AMN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AMN Gene

Proteins for AMN Gene

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

    Protein Symbol:
    Q9BXJ7-AMNLS_HUMAN
    Recommended name:
    Protein amnionless
    Protein Accession:
    Q9BXJ7
    Secondary Accessions:
    • Q6UX83

    Protein attributes for AMN Gene

    Size:
    453 amino acids
    Molecular mass:
    47754 Da
    Quaternary structure:
    • Interacts with CUBN/cubilin.
    Miscellaneous:
    • The mutations described in PubMed:12590260 all affect the N-terminus of the protein; shorter isoforms produced from alternative transcription start sites might still fulfill a role in embryogenesis. This might explain the discrepancy with the embryonic lethality of null mutants in mice.

    Alternative splice isoforms for AMN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMN Gene

Proteomics data for AMN Gene at MOPED

Post-translational modifications for AMN Gene

  • Glycosylation at Asn 35
  • Modification sites at PhosphoSitePlus

Other Protein References for AMN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for AMN Gene

Domains & Families for AMN Gene

Protein Domains for AMN Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AMN Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXJ7

UniProtKB/Swiss-Prot:

AMNLS_HUMAN :
  • Contains 1 VWFC domain.
Domain:
  • Contains 1 VWFC domain.
genes like me logo Genes that share domains with AMN: view

No data available for Gene Families for AMN Gene

Function for AMN Gene

Molecular function for AMN Gene

UniProtKB/Swiss-Prot Function:
Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity).
genes like me logo Genes that share phenotypes with AMN: view

Human Phenotype Ontology for AMN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMN Gene

MGI Knock Outs for AMN:

Animal Model Products

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

Localization for AMN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMN Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMN Gene COMPARTMENTS Subcellular localization image for AMN gene
Compartment Confidence
extracellular 5
plasma membrane 5
endosome 4
lysosome 2
vacuole 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with AMN: view

Pathways & Interactions for AMN Gene

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

Gene Ontology (GO) - Biological Process for AMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006898 receptor-mediated endocytosis IMP 20088845
GO:0007275 multicellular organism development IEA --
GO:0007588 excretion IEA --
genes like me logo Genes that share ontologies with AMN: view

No data available for SIGNOR curated interactions for AMN Gene

Drugs & Compounds for AMN Gene

(27) Drugs for AMN Gene - From: DrugBank, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other 234
Cyanocobalamin Approved Nutra Transporter, substrate 234
Vitamin E Approved Nutra 382,385
Acetylcysteine Approved Pharma Antioxidant;mucolytic agent 299
Bezafibrate Approved Pharma Agonist 12
genes like me logo Genes that share compounds with AMN: view

Transcripts for AMN Gene

Unigene Clusters for AMN Gene

Amnion associated transmembrane protein:
Representative Sequences:

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

No ASD Table

Relevant External Links for AMN Gene

GeneLoc Exon Structure for
AMN
ECgene alternative splicing isoforms for
AMN

Expression for AMN Gene

mRNA expression in normal human tissues for AMN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMN Gene

This gene is overexpressed in Colon - Transverse (x13.5), Small Intestine - Terminal Ileum (x13.3), Kidney - Cortex (x9.3), and Liver (x8.3).

Protein differential expression in normal tissues from HIPED for AMN Gene

This gene is overexpressed in Kidney (62.9).

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



SOURCE GeneReport for Unigene cluster for AMN Gene Hs.534494

mRNA Expression by UniProt/SwissProt for AMN Gene

Q9BXJ7-AMNLS_HUMAN
Tissue specificity: Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with AMN: view

Protein tissue co-expression partners for AMN Gene

- Elite partner

Primer Products

Orthologs for AMN Gene

This gene was present in the common ancestor of animals.

Orthologs for AMN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AMN 35
  • 82.85 (n)
  • 76.06 (a)
AMN 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amn 35
  • 72.56 (n)
  • 63.53 (a)
Amn 16
Amn 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMN 35
  • 99.34 (n)
  • 98.68 (a)
AMN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amn 35
  • 80.39 (n)
  • 70.14 (a)
dog
(Canis familiaris)
Mammalia AMN 36
  • 38 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMN 36
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMN 36
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMN 35
  • 57.55 (n)
  • 44.68 (a)
AMN 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMN 36
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amn 35
  • 52.85 (n)
  • 44.44 (a)
zebrafish
(Danio rerio)
Actinopterygii amn 35
  • 52 (n)
  • 41.06 (a)
amn 36
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11592 36
  • 16 (a)
OneToOne
Species with no ortholog for AMN:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for AMN Gene

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

Paralogs for AMN Gene

No data available for Paralogs for AMN Gene

Variants for AMN Gene

Sequence variations from dbSNP and Humsavar for AMN Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_015733 Recessive hereditary megaloblastic anemia 1 (RH-MGA1)
rs7140429 -- 102,928,786(+) TCTGA(C/T)CGCTT reference, synonymous-codon
rs2749513 -- 102,924,051(+) TGCTG(C/T)GCCTT intron-variant
rs2749514 -- 102,924,184(+) CTGTG(C/T)CCTGG intron-variant
rs7153925 -- 102,930,813(+) CAGGG(C/T)GGCCT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv483032 CNV Gain 15286789
nsv509552 CNV Insertion 20534489
dgv1985n71 CNV Loss 21882294
nsv902263 CNV Loss 21882294
nsv9167 CNV Gain 18304495

Variation tolerance for AMN Gene

Gene Damage Index Score: 3.35; 53.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMN Gene

Human Gene Mutation Database (HGMD)
AMN

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

Disorders for AMN Gene

MalaCards: The human disease database

(5) MalaCards diseases for AMN Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
megaloblastic anemia-1, finnish type
  • megaloblastic anemia-1, norwegian type
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
megaloblastic anemia
  • grasbeck-imerslund syndrome
congenital intrinsic factor deficiency
  • intrinsic factor deficiency
vitamin metabolic disorder
- elite association - COSMIC cancer census association via MalaCards
Search AMN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMNLS_HUMAN
  • Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AMN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMN
genes like me logo Genes that share disorders with AMN: view

No data available for Genatlas for AMN Gene

Publications for AMN Gene

  1. The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain. (PMID: 11279523) Kalantry S. … Lacy E. (Nat. Genet. 2001) 2 3 4 67
  2. Variations of the Amnionless gene in recurrent spontaneous abortions. (PMID: 16403802) Kaare M. … AittomAoki K. (Mol. Hum. Reprod. 2006) 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan. (PMID: 16047053) Al-Alami J.R. … El-Shanti H. (Saudi Med J 2005) 25 26

Products for AMN Gene

Sources for AMN Gene

Content