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NT5DC2 5'-nucleotidase domain containing 2 [ Homo sapiens (human) ]

Gene ID: 64943, updated on 4-Dec-2022

Summary

Official Symbol
NT5DC2provided by HGNC
Official Full Name
5'-nucleotidase domain containing 2provided by HGNC
Primary source
HGNC:HGNC:25717
See related
Ensembl:ENSG00000168268 AllianceGenome:HGNC:25717
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
Summary
Predicted to enable 5'-nucleotidase activity. Predicted to be involved in dephosphorylation. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 25.8), ovary (RPKM 16.7) and 23 other tissues See more
Orthologs
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Genomic context

See NT5DC2 in Genome Data Viewer
Location:
3p21.1
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52524387..52535027, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52557295..52567927, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52558403..52569043, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene troponin C1, slow skeletal and cardiac type Neighboring gene nischarin Neighboring gene stabilin 1 Neighboring gene uncharacterized LOC124909379 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 5 Neighboring gene RNA, U6 small nuclear 856, pseudogene Neighboring gene polybromo 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12442

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5'-nucleotidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
5'-nucleotidase domain-containing protein 2
NP_001127703.1
NP_075059.1
XP_006713366.1
XP_047304716.1

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_001134231.2NP_001127703.1  5'-nucleotidase domain-containing protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
    Source sequence(s)
    AC112215, AK022504, AK023995, AW510639, DR003312
    Consensus CDS
    CCDS46843.1
    UniProtKB/Swiss-Prot
    Q9H857
    Related
    ENSP00000406933.2, ENST00000422318.7
    Conserved Domains (1) summary
    pfam05761
    Location:101533
    5_nucleotid; 5' nucleotidase family
  2. NM_022908.3NP_075059.1  5'-nucleotidase domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_075059.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a different segment for its 5' UTR and coding region, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct N-terminus when it is compared to isoform 1.
    Source sequence(s)
    AK023995, DA013090
    Consensus CDS
    CCDS2858.1
    UniProtKB/Swiss-Prot
    Q9H857, Q9H9Z8
    Related
    ENSP00000302468.4, ENST00000307076.8
    Conserved Domains (1) summary
    pfam05761
    Location:64496
    5_nucleotid; 5' nucleotidase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    52524387..52535027 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448760.1XP_047304716.1  5'-nucleotidase domain-containing protein 2 isoform X2

  2. XM_006713303.4XP_006713366.1  5'-nucleotidase domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    pfam05761
    Location:101493
    5_nucleotid; 5' nucleotidase family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    52557295..52567927 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)