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Aliases for AMN Gene

Aliases for AMN Gene

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

External Ids for AMN Gene

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 and methylmalonic aciduria and homocystinuria type cble. Among its related pathways are Disease and Metabolism.

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

Genomic Location for AMN Gene

Start:
102,922,656 bp from pter
End:
102,933,596 bp from pter
Size:
10,941 bases
Orientation:
Plus strand

Genomic View for AMN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMN Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn35

Other Protein References for AMN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AMN Gene

Domains for AMN Gene

Protein Domains for AMN Gene

Blocks:
InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

AMNLS_HUMAN
Domain:
  • Contains 1 VWFC domain.:
    • Q9BXJ7
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).

Gene Ontology (GO) - Molecular Function for AMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 14576052
genes like me logo Genes that share ontologies with AMN: view

Phenotypes for AMN Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
plasma membrane 4
extracellular 2
cytoskeleton 1
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 14576052
GO:0005886 plasma membrane TAS --
GO:0010008 endosome membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IDA 14576052
genes like me logo Genes that share ontologies with AMN: view

Pathways for AMN Gene

SuperPathways for AMN Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Lipoprotein metabolism
3 Metabolism
4 Disease
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 organismal development IEA --
GO:0007588 excretion IEA --
genes like me logo Genes that share ontologies with AMN: view

Compounds for AMN Gene

(1) HMDB Compounds for AMN Gene

Compound Synonyms Cas Number PubMed IDs
Cyanocobalamin
  • Dimethylbenzimidazoylcobamide
68-19-9

(2) Drugbank Compounds for AMN Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cyanocobalamin
  • Cyanocob(III)alamin
68-19-9 transporter substrate
Hydroxocobalamin
  • Hydroxomin
13422-51-0 target other
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 (13.5), Small Intestine - Terminal Ileum (13.3), Kidney - Cortex (9.3), and Liver (8.3).

Integrated Proteomics: protein expression 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 expressions with AMN: view

Orthologs for AMN Gene

This gene was present in the common ancestor of animals.

Orthologs for AMN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMN 36
  • 99.34 (n)
  • 98.68 (a)
AMN 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMN 36
  • 82.85 (n)
  • 76.06 (a)
AMN 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMN 37
  • 38 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amn 36
  • 72.56 (n)
  • 63.53 (a)
Amn 16
Amn 37
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMN 37
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMN 37
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amn 36
  • 80.39 (n)
  • 70.14 (a)
chicken
(Gallus gallus)
Aves AMN 36
  • 57.55 (n)
  • 44.68 (a)
AMN 37
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMN 37
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amn 36
  • 52.85 (n)
  • 44.44 (a)
zebrafish
(Danio rerio)
Actinopterygii amn 36
  • 52 (n)
  • 41.06 (a)
amn 37
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11592 37
  • 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 MAF
rs1134469 -- 102,928,832(+) ACGAG(A/G)CACCT missense, reference
rs1190225 -- 102,922,877(+) CGGCC(C/T)TGCCT intron-variant
rs1190226 -- 102,924,046(+) GGGAC(C/T)GCTGT intron-variant
rs1190227 -- 102,925,361(+) GGTTC(A/C)TTCCT intron-variant
rs1190228 -- 102,925,406(+) GCCAC(A/G)CACTG intron-variant

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

Relevant External Links for AMN Gene

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

Disorders for AMN Gene

(1) OMIM Diseases for AMN Gene (605799)

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.
genes like me logo Genes that share disorders with AMN: view

Publications for AMN Gene

  1. Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. (PMID: 12590260) Tanner S.M. … de la Chapelle A. (Nat. Genet. 2003) 3 4 23
  2. 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
  3. Variations of the Amnionless gene in recurrent spontaneous abortions. (PMID: 16403802) Kaare M. … AittomAoki K. (Mol. Hum. Reprod. 2006) 3 23
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  5. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. (PMID: 14576052) Fyfe J.C. … Moestrup S.K. (Blood 2004) 3 4

Products for AMN Gene

Sources for AMN Gene

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