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Aliases & Descriptions for AMN
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| | | Descriptions |
|---|
| amnionless homolog (mouse) 2 | | amnionless protein 2 | | visceral endoderm-specific type 1 transmembrane protein 2 |
|
| | Search outside databases for aliases for AMN genePrevious GC identifers: GC14P100780 GC14P097204 GC14P101379 |
Summaries for AMN(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, Q9BXJ7Function: 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 |
Genomic Location 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: 14q32.3AMN 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
| Proteins for AMN
(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: Q6UX83Alternative 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 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
): About this table
Antibodies for AMN: Assays for AMN: | Protein
Domains/ Families for AMN(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q9BXJ7Similarity: Contains 1 VWFC domain | Gene Function for AMN
(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.)
About This Section
|               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 
              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, Q9BXJ7Function: 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):
| Pathways & Interactions for AMN
(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 STRINGAbout this table
3 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007275 | multicellular organismal development |
IEA | -- | | GO:0007588 | excretion |
IEA | -- | | GO:0008104 | protein localization |
IEA | -- | About this table
|
Drugs & Compounds for AMN(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 Tocris compounds for AMN
|
Transcripts 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
|               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
|
Expression for AMN
(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 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, Q9BXJ7Tissue 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 for AMN
(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
)
About this table Species with no ortholog for AMN
ENSEMBL Gene Tree for AMN | Paralogs for AMN(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for AMN(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AMN (up to first 250kb)
|
Disorders & Mutations for AMN
(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 affectedHuman Gene Mutation Database: AMN
|
Medical News for AMN(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AMN (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
):- The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain. (PubMed id 11279523)2, 3, 4 Kalantry S.... Lacy E. (2001)
- Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. (PubMed id 12590260)1, 3, 4 Tanner S.M.... de la Chapelle A. (2003)
- The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. (PubMed id 14576052)3, 4 Fyfe J.C.... Moestrup S.K. (2004)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)3, 4 Clark H.F....Gray A. (2003)
- Variations of the Amnionless gene in recurrent spontaneous abortions. (PubMed id 16403802)1, 3 Kaare M....Aittomaki K. (2006)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)3 Barbe L....Andersson-Svahn H. (2008)
- Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless. (PubMed id 17979745)3 Kozyraki R. and Gofflot F. (2007)
- A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. (PubMed id 16730941)3 Tsang H.T.H....Sanderson C.M. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3 Ota T....Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)3 Strausberg R.L....Marra M.A. (2002)
|
Search for AMN
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AMN
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AMN
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AMN(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=AMN |
|
| | | About This Section
| --
| Services for AMN(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:

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Incremental update: 13 Oct 2009
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