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

Gene ID: 64943, updated on 7-Oct-2018

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 Vega:OTTHUMG00000158626
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
Expression
Ubiquitous expression in adrenal (RPKM 25.8), ovary (RPKM 16.7) and 23 other tissues See more
Orthologs

Genomic context

See NT5DC2 in Genome Data Viewer
Location:
3p21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (52524369..52535077, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52558385..52569093, 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 small integral membrane protein 4 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 Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA 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
5'-nucleotidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
dephosphorylation 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_005265463.1
XP_006713366.1
XP_006713368.1
XP_024309487.1

NCBI Reference Sequences (RefSeq)

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_001134231.1NP_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)
    AK022504, AK023995, AW510639, BM982658, DR003312
    Consensus CDS
    CCDS46843.1
    UniProtKB/Swiss-Prot
    Q9H857
    Related
    ENSP00000406933.2, OTTHUMP00000225828, ENST00000422318.6, OTTHUMT00000377189
    Conserved Domains (1) summary
    pfam05761
    Location:101533
    5_nucleotid; 5' nucleotidase family
  2. NM_022908.2NP_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, BM982658, DA013090, DB265466
    Consensus CDS
    CCDS2858.1
    UniProtKB/Swiss-Prot
    Q9H857
    Related
    ENSP00000302468.4, OTTHUMP00000213160, ENST00000307076.8, OTTHUMT00000351509
    Conserved Domains (1) summary
    pfam05761
    Location:64496
    5_nucleotid; 5' nucleotidase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    52524369..52535077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713303.3XP_006713366.1  5'-nucleotidase domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    pfam05761
    Location:101493
    5_nucleotid; 5' nucleotidase family
  2. XM_006713305.2XP_006713368.1  5'-nucleotidase domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_006713368.1

    UniProtKB/Swiss-Prot
    Q9H857
    Conserved Domains (1) summary
    pfam05761
    Location:1366
    5_nucleotid; 5' nucleotidase family
  3. XM_005265406.2XP_005265463.1  5'-nucleotidase domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_005265463.1

    UniProtKB/Swiss-Prot
    Q9H857
    Conserved Domains (1) summary
    pfam05761
    Location:1366
    5_nucleotid; 5' nucleotidase family
  4. XM_024453719.1XP_024309487.1  5'-nucleotidase domain-containing protein 2 isoform X2

    Conserved Domains (1) summary
    pfam05761
    Location:1393
    5_nucleotid; 5' nucleotidase family
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