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AMN Gene

protein-coding   GIFtS: 50

GC14P102458
amnionless homolog (mouse)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
PRO1028 2
Descriptions
amnionless homolog (mouse) 2
amnionless protein 2
visceral endoderm-specific type 1 transmembrane protein 2
External Ids
HGNC: 146041
Entrez Gene: 816932
UniProtKB: Q9BXJ73
Ensembl: ENSG000001661267
Search outside databases for aliases for AMN gene

Previous GC identifers: GC14P100780 GC14P097204 GC14P101379

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for AMN:
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]

UniProtKB/Swiss-Prot: AMNLS_HUMAN, Q9BXJ7
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 Wiki entry for AMN

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AMN gene  

Entrez Gene cytogenetic band: 14q32.3   Ensembl cytogenetic band:  14q32.32   HGNC cytogenetic band: 14q32.3

AMN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P102458:     (about GC identifiers)

Start:
102,458,747 bp from pter
End:
102,467,282 bp from pter
Size:
8,536 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000014.7  NT_026437.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: AMNLS_HUMAN, Q9BXJ7 (See protein sequence)
Recommended Name: Protein amnionless precursor  
Size: 453 amino acids; 47815 Da
Subunit: Interacts with CUBN/cubilin
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
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
Secondary accessions: Q6UX83
Alternative promoter usage: 1 isoform:  Q9BXJ7-1   (At least 5 isoforms, 1, 2, 3, 4 and 5, are produced)

REFSEQ proteins: NP_112205.2  

ENSEMBL proteins: 
ENSP00000299155 


Human Recombinant Proteins 
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                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0005730 nucleolus IDA18029348
GO:0005737 cytoplasm IDA18029348
GO:0005794 Golgi apparatus IDA18029348
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
About this table

Antibodies for AMN: 
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Sigma-Aldrich Antibodies for AMN
R&D Systems Antibodies for AMN (Amnionless)
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Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for AMN

Assays for AMN: 
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Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR001007 VWF_C


   GeneDecks  AMN for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9BXJ7

ProtoNet protein and cluster: Q9BXJ7

1 Blocks protein family: IPB001007 von Willebrand factor

UniProtKB/Swiss-Prot: AMNLS_HUMAN, Q9BXJ7
Similarity: Contains 1 VWFC domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AMN)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_030943

              Applied Biosystems Silencer® siRNAs for AMN

              Sigma-Aldrich siRNA for AMN  
                     Sigma-Aldrich shRNA for AMN  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030943
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_030943
                                 untagged cDNA clone in CMV expression vector: NM_030943 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_030943

UniProtKB/Swiss-Prot: AMNLS_HUMAN, Q9BXJ7
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)

4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Amn):

cellularembryogenesislethality-prenatal/perinatalnervous system

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  AMN 


2 Interacting proteins for AMN (ENSP000002991553) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
APOA1ENSP000003644693STRING (score=.899)
CUBNENSP000003670643STRING (score=.899)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007275 multicellular organismal development IEA--
GO:0007588 excretion IEA--
GO:0008104 protein localization IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for AMN

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AMN)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_030943

              Sigma-Aldrich siRNA for AMN  
                     Sigma-Aldrich shRNA for AMN  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_030943  

REFSEQ mRNAs for AMN gene: 

NM_030943.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_030943  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030943
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_030943
                                 untagged cDNA clone in CMV expression vector: NM_030943 

Additional cDNA sequence: 

AF328788.1 AK055802.1 AY358468.1 BC029948.1 

6 DOTS entries:

DT.105025  DT.86855352  DT.75157682  DT.100819449  DT.120773073  DT.86855351 

24/232 AceView cDNA sequences (see all 232 ):

BF590640 AI984122 AI284222 AI767497 AI364952 BU784702 AI433701 BF591179 
AW006866 AI590326 AW299664 AI822025 AI640182 AI565422 AI817659 AI536618 
AI985527 BE501801 AI739257 BU528630 AI733056 BE676771 AI762647 BF591436 

highest scoring ESTs for AMN:

AF328788 AI271753 AI433314 AI739257 AI969354 AI970202 AK055802 AW004726 AW004958 AW051926 

Unigene Cluster for AMN:

Amnionless homolog (mouse)
Hs.534494  [show with all ESTs]
Unigene Representative Sequence: AK055802


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000299155  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

AMN expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AMN

1 / 2 / 3

12 probe-sets matching AMN gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

91146_f_at2, 3 U95-E 1 1.00 1.00 0.86 1.29 AW004958 0.80 1.00 0.91 1

87933_f_at2, 3 U95-E 1 1.00 1.00 0.84 1.36 AI817659 0.60 1.00 0.82 1

78473_at2, 3 U95-E 1 1.00 1.00 0.82 0.88 AW051926 0.80 1.00 0.91 1

52736_f_at2, 3 U95-C 4 1.00 0.95 0.79 1.11 AI739257 0.80 1.00 0.91 1

88112_at2, 3 U95-E 1 0.94 1.00 0.86 1.11 AA873033 0.40 1.00 0.76 1
87935_r_at*2, 3 U95-E 1 1.00 1.00 -0.01 0.80 AI817659 0.60 1.00 0.82 1

78159_s_at*2, 3 U95-E 1 1.00 1.00 0.74 0.48 AI582193 0.60 1.00 0.82 1

220989_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_030943 0.60 1.00 0.82 1

223587_s_at2, 3 U133-B 1 1.00 1.00 -- -- AW051926 0.80 1.00 0.91 1

220989_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

223587_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1563792_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  AMN for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CGGGAGTCGG

SOURCE GeneReport for Unigene cluster: Hs.534494

UniProtKB/Swiss-Prot: AMNLS_HUMAN, Q9BXJ7
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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for AMN gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
AMN1   -- amnionless homolog (mouse) 99.34(n)
98.68(a)
453179  XM_510179.2  XP_510179.2 
cow
(Bos taurus)
AMN1   -- amnionless homolog (mouse) 83.3(n)
76.51(a)
767976  NM_001077041.1  NP_001070509.1 
rat
(Rattus norvegicus)
Amn1   -- amnionless homolog (mouse) 77.4(n)
67.79(a)
314459  XM_234547.4  XP_234547.4 
mouse
(Mus musculus)
Amn1, 5 12 (55.10 cM)5
amnionless1, 5 76.45(n)1
69.75(a)1
938351  NM_033603.21  NP_291081.21 
 AA9294435  AF3206155  (see all 11)
chicken
(Gallus gallus)
AMN1   -- amnionless homolog (mouse) 55.74(n)
41.69(a)
423472  XM_421379.2  XP_421379.2 
About this table        Species with no ortholog for AMN

ENSEMBL Gene Tree for AMN
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/72 NCBI SNPs in AMN are shown (see all 72 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 81)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 14 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs11902331,2
A,C,F,H102466808(+) CACCCC/GCTCTG 1 -- ut31 ese38Minor allele frequency- G:0.28EU EA NS 1884
rs12114971,2
A,C,F,H102458533(+) ATTTTA/TCAGGG 1 -- ng518Minor allele frequency- T:0.36EU EA WA 834
--
rs101480141,2
A,C,F102467666(+) GCCACA/GATTTT 1 -- ng314Minor allele frequency- G:0.04NS 166
--
rs49062751,2
A,C102457724(+) tgcccC/GgccAA 1 -- ng510--------
--
rs49062741,2
A,C102457485(+) gcacaA/Gtggcg 1 -- ng510--------
--
rs71539251,2
C,F102466903(+) CAGGGT/CGGCCT 1 -- ut314Minor allele frequency- C:0.02NS 132
rs22958291,2
A,C102458756(+) CTGGTC/GGGGTG 1 -- ut510--------
--
rs106515011,2
C102467668(+) ACAAT-/TTTC  
        
TTTCT
1 -- ng314Minor allele frequency- TTTC:0.00NS 158
rs341244881,2
F102466873(-) GGGGAA/GAGGAA 1 -- ut314Minor allele frequency- G:0.01NS 132
--
rs22958281,2
C102458752(+) TCTCCC/TGGTGG 1 -- ut510--------
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HapMap Linkage Disequilibrium images for AMN (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 605799   disorders: 261100  

UniProtKB/Swiss-Prot: AMNLS_HUMAN, Q9BXJ7

  • Defects in AMN are a cause of recessive hereditary megaloblastic anemia 1 (MGA1)
    [MIM:261100]; also referred to as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). MGA1
    is 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
  • Human Gene Mutation Database: AMN

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/15 PubMed articles for AMN gene (see all 15 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 81693 HGNC: 14604 AceView: AMN Ensembl:ENSG00000166126 euGenes: HUgn81693
    ECgene: AMN H-InvDB: AMN
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=AMN
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AMN:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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