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    AMDHD2 amidohydrolase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 51005, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AMDHD2provided by HGNC
    Official Full Name
    amidohydrolase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24262
    See related
    Ensembl:ENSG00000162066 MIM:620864; AllianceGenome:HGNC:24262
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGI-14
    Summary
    Enables N-acetylglucosamine-6-phosphate deacetylase activity. Involved in negative regulation of UDP-N-acetylglucosamine biosynthetic process. Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 8.7), kidney (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMDHD2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2520371..2531417)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2542493..2553539)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2570372..2581418)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2532873-2533374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2533375-2533874 Neighboring gene TBC1 domain family member 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2546817-2547422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2550095-2550912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557190-2557690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557691-2558191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2561075-2561678 Neighboring gene Sharpr-MPRA regulatory region 4251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7059 Neighboring gene ATPase H+ transporting V0 subunit c Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2582640-2583341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2588417-2589117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10274 Neighboring gene microRNA 3178 Neighboring gene cementum protein 1 Neighboring gene 3-phosphoinositide dependent protein kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2607343-2607844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2610177-2610678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2610679-2611178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2635245-2635746

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. GFPT2/GFAT2 and AMDHD2 act in tandem to control the hexosamine pathway. Kroef V, et al. Elife, 2022 Mar 1. PMID 35229715, Free PMC Article
    2. Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N-glycolylneuraminic acid. Bergfeld AK, et al. J Biol Chem, 2012 Aug 17. PMID 22692205, Free PMC Article
    3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article
    4. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. König R, et al. Cell, 2008 Oct 3. PMID 18854154, Free PMC Article
    5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of amidohydrolase domain containing 2 (AMDHD2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables N-acetylgalactosamine-6-phosphate deacetylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acetylglucosamine-6-phosphate deacetylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acetylglucosamine-6-phosphate deacetylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acetylglucosamine-6-phosphate deacetylase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-acetylglucosamine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-acetylneuraminate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in N-acetylneuraminate catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in UDP-N-acetylglucosamine biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of UDP-N-acetylglucosamine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    N-acetylglucosamine-6-phosphate deacetylase
    Names
    amidohydrolase domain-containing protein 2
    glcNAc 6-P deacetylase
    putative N-acetylglucosamine-6-phosphate deacetylase
    NP_001139287.1
    NP_001317378.1
    NP_001397872.1
    NP_057028.2
    XP_016878755.1
    XP_016878756.1
    XP_047290146.1
    XP_054236403.1
    XP_054236404.1
    XP_054236405.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145815.2 → NP_001139287.1  N-acetylglucosamine-6-phosphate deacetylase isoform 2

      See identical proteins and their annotated locations for NP_001139287.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' structure and retains an intron in the 3' coding region compared to variant 3. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 3.
      Source sequence(s)
      AK296877, CN362870
      Consensus CDS
      CCDS53984.1
      UniProtKB/Swiss-Prot
      Q9Y303
      Related
      ENSP00000391596.3, ENST00000413459.7
      Conserved Domains (1) summary
      cd00854
      Location:13 → 428
      NagA; N-acetylglucosamine-6-phosphate deacetylase, NagA, catalyzes the hydrolysis of the N-acetyl group of N-acetyl-glucosamine-6-phosphate (GlcNAc-6-P) to glucosamine 6-phosphate and acetate. This is the first committed step in the biosynthetic pathway to ...

    2. NM_001330449.2 → NP_001317378.1  N-acetylglucosamine-6-phosphate deacetylase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the shortest isoform (3).
      Source sequence(s)
      AC093525, BC018734
      Consensus CDS
      CCDS81936.1
      UniProtKB/Swiss-Prot
      B4DL77, Q8WV54, Q9Y303
      Related
      ENSP00000293971.6, ENST00000293971.11
      Conserved Domains (1) summary
      cd00854
      Location:13 → 398
      NagA; N-acetylglucosamine-6-phosphate deacetylase, NagA, catalyzes the hydrolysis of the N-acetyl group of N-acetyl-glucosamine-6-phosphate (GlcNAc-6-P) to glucosamine 6-phosphate and acetate. This is the first committed step in the biosynthetic pathway to ...

    3. NM_001410943.1 → NP_001397872.1  N-acetylglucosamine-6-phosphate deacetylase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC093525
      Consensus CDS
      CCDS92088.1
      UniProtKB/TrEMBL
      A0A3B3IU33
      Related
      ENSP00000498048.1, ENST00000648227.1

    4. NM_015944.4 → NP_057028.2  N-acetylglucosamine-6-phosphate deacetylase isoform 1

      See identical proteins and their annotated locations for NP_057028.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) retains an intron in the 3' coding region compared to variant 1. The encoded isoform (1) is longer than isoform 3.
      Source sequence(s)
      AC093525, BC018734, CN362870
      Consensus CDS
      CCDS10471.1
      UniProtKB/Swiss-Prot
      Q9Y303
      Related
      ENSP00000307481.4, ENST00000302956.8
      Conserved Domains (1) summary
      cd00854
      Location:13 → 428
      NagA; N-acetylglucosamine-6-phosphate deacetylase, NagA, catalyzes the hydrolysis of the N-acetyl group of N-acetyl-glucosamine-6-phosphate (GlcNAc-6-P) to glucosamine 6-phosphate and acetate. This is the first committed step in the biosynthetic pathway to ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2520371..2531417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023267.3 → XP_016878756.1  N-acetylglucosamine-6-phosphate deacetylase isoform X3

      UniProtKB/TrEMBL
      B4DUQ4

    2. XM_017023266.3 → XP_016878755.1  N-acetylglucosamine-6-phosphate deacetylase isoform X1

    3. XM_047434190.1 → XP_047290146.1  N-acetylglucosamine-6-phosphate deacetylase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2542493..2553539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380430.1 → XP_054236405.1  N-acetylglucosamine-6-phosphate deacetylase isoform X3

      UniProtKB/TrEMBL
      B4DUQ4

    2. XM_054380428.1 → XP_054236403.1  N-acetylglucosamine-6-phosphate deacetylase isoform X1

    3. XM_054380429.1 → XP_054236404.1  N-acetylglucosamine-6-phosphate deacetylase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y303.2 GenPept UniProtKB/Swiss-Prot:Q9Y303

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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