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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
  • Protein Amnionless 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 Congenital Intrinsic Factor Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include receptor binding.

UniProtKB/Swiss-Prot for AMN Gene

  • Necessary for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052). Required for normal CUBN-mediated protein transport in the kidney. 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 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
GH14F103007 0.4 ENCODE 6.7 +87.2 87188 4.9 ZNF335 ZNF121 RCOR1 FOS EGR2 ELK4 SMARCC1 ZNF362 NR2F2 MTA1 TRAF3 AMN ENSG00000269940 APOPT1 GC14M102996 PIR49144
GH14F102922 0.7 Ensembl ENCODE 6.1 +3.1 3113 7.1 ARNT MLX ARID4B SIN3A YBX1 DMAP1 ZNF48 ZNF121 ZNF766 GLIS2 AMN ENSG00000269940 ENSG00000259515
GH14F102535 0.8 ENCODE 5.7 -386.0 -385954 1.3 CTCF ZFHX2 SAP130 HLF ZNF223 ZMYM3 CEBPG PRDM10 CINP RCOR1 TECPR2 AMN MOK MIR4309 LOC105370680
GH14F102948 1.3 Ensembl ENCODE 4.9 +27.1 27088 1.9 SREBF1 MAX ZNF266 MYC SPI1 AMN GC14P102947 PIR49144
GH14F102951 0.2 ENCODE 4.9 +29.4 29396 1.5 HDAC1 GATA2 SCRT2 FOS JUNB CEBPB NCOA1 MEF2D KLF16 SMARCA4 AMN GC14P102947 PIR49144
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers 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

Post-translational modifications for AMN Gene

Other Protein References for AMN Gene

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 (PubMed:12590260, PubMed:14576052). Required for normal CUBN-mediated protein transport in the kidney. 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
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for AMN Gene

Localization for AMN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMN Gene

Apical cell membrane; Single-pass type I membrane protein. Cell membrane; Peripheral membrane protein. Endosome. Membrane, coated pit.

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:0005615 extracellular space IDA 14576052
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
GO:0010008 endosome membrane TAS --
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:0006810 transport IEA --
GO:0006898 receptor-mediated endocytosis IMP 20088845
GO:0007275 multicellular organism development IEA --
GO:0007588 excretion IEA --
GO:0008104 protein localization 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

(31) 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 248
Cyanocobalamin Approved Nutra Transporter, substrate 249
Vitamin E Approved, Vet_approved Nutra 406,403
Acetylcysteine Approved Pharma Antioxidant;mucolytic agent 316
Bezafibrate Approved Pharma Agonist 14
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for AMN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMN Gene:

AMN

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

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
chimpanzee
(Pan troglodytes)
Mammalia AMN 34 35
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia AMN 34 35
  • 82.85 (n)
rat
(Rattus norvegicus)
Mammalia Amn 34
  • 80.39 (n)
mouse
(Mus musculus)
Mammalia Amn 34 16 35
  • 72.56 (n)
oppossum
(Monodelphis domestica)
Mammalia AMN 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMN 35
  • 42 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMN 35
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMN 34 35
  • 57.55 (n)
lizard
(Anolis carolinensis)
Reptilia AMN 35
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amn 34
  • 52.85 (n)
zebrafish
(Danio rerio)
Actinopterygii amn 34 35
  • 52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11592 35
  • 16 (a)
OneToOne
Species where no ortholog for AMN 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 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
rs28939377 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
rs119478058 Pathogenic 102,923,789(+) CCGGA(C/T)CCCGT reference, missense, utr-variant-5-prime
rs144077391 Likely pathogenic 102,929,087(+) TCCTC(A/C/G)GGCTG intron-variant
rs386834160 Likely pathogenic 102,930,102(+) CCGCC(-/CCATCCCGCCCCGCC)GCGCC intron-variant
rs386834163 Likely pathogenic 102,930,172(+) GAGGC(-/CCTCGGCG)TCCTG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv1075867 CNV duplication 25765185
nsv509552 CNV insertion 20534489
nsv9167 CNV gain 18304495
nsv952256 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, GeneTests, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
megaloblastic anemia-1, finnish type
  • megaloblastic anemia-1, norwegian type
congenital intrinsic factor deficiency
  • intrinsic factor deficiency
intrinsic factor deficiency
  • congenital intrinsic factor deficiency
3-methylglutaconic aciduria, type i
  • 3-@methylglutaconic aciduria, type i
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. 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 22 64
  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 64
  3. Variations of the Amnionless gene in recurrent spontaneous abortions. (PMID: 16403802) Kaare M. … AittomAoki K. (Mol. Hum. Reprod. 2006) 3 22 64
  4. 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 64
  5. 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 64

Products for AMN Gene

Sources for AMN Gene

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