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

Gene ID: 51005, updated on 8-Mar-2025

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, Mar 2025]
Expression
Ubiquitous expression in spleen (RPKM 8.7), kidney (RPKM 8.5) and 25 other tissues See more
Orthologs
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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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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

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