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NIPAL2 NIPA like domain containing 2 [ Homo sapiens (human) ]

Gene ID: 79815, updated on 13-Mar-2020

Summary

Official Symbol
NIPAL2provided by HGNC
Official Full Name
NIPA like domain containing 2provided by HGNC
Primary source
HGNC:HGNC:25854
See related
Ensembl:ENSG00000104361
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
NPAL2
Expression
Ubiquitous expression in skin (RPKM 16.1), prostate (RPKM 7.7) and 25 other tissues See more
Orthologs

Genomic context

See NIPAL2 in Genome Data Viewer
Location:
8q22.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (98189826..98294235, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99202054..99307444, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene reactive intermediate imine deaminase A homolog Neighboring gene tRNA-undetermined (NNN) 2-1 Neighboring gene POP1 homolog, ribonuclease P/MRP subunit Neighboring gene uncharacterized LOC105375660 Neighboring gene RNA, U6 small nuclear 914, pseudogene Neighboring gene uncharacterized LOC105375659 Neighboring gene uncharacterized LOC107986870 Neighboring gene microRNA 9903

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ13955

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001321635.2NP_001308564.1  NIPA-like protein 2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI753381, AK024017, AK025015, BC144055, BU677761, DA482369
    Consensus CDS
    CCDS83310.1
    UniProtKB/Swiss-Prot
    Q9H841
    Related
    ENSP00000407087.2, ENST00000430223.7
    Conserved Domains (1) summary
    cl23754
    Location:45332
    EamA; EamA-like transporter family
  2. NM_001321636.2NP_001308565.1  NIPA-like protein 2 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon resultiing in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AI753381, AK024017, AK025015, BC144055, BU677761, DA482369
    UniProtKB/Swiss-Prot
    Q9H841
    Conserved Domains (1) summary
    cl23754
    Location:45315
    EamA; EamA-like transporter family
  3. NM_024759.3NP_079035.1  NIPA-like protein 2 isoform b

    See identical proteins and their annotated locations for NP_079035.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AI753381, AK024017, AK025015, BU677761, DA482369
    Consensus CDS
    CCDS6278.1
    UniProtKB/Swiss-Prot
    Q9H841
    Related
    ENSP00000339256.3, ENST00000341166.3
    Conserved Domains (1) summary
    cl23754
    Location:45332
    EamA; EamA-like transporter family

RNA

  1. NR_135745.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI753381, AK024017, AK025015, AL706246, AW082976, BC144055, BU677761, DA482369
  2. NR_135746.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI753381, AK024017, AK025015, AL706246, AP003439, AW082976, BC144055, BU677761, DA482369
  3. NR_135747.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI753381, AK024017, AK025015, BC144055, BP346328, BU677761, DA184376, DA482369, DC402113

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    98189826..98294235 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517302.3XP_011515604.2  NIPA-like protein 2 isoform X1

    Conserved Domains (1) summary
    cl23754
    Location:45186
    EamA; EamA-like transporter family

RNA

  1. XR_001745599.2 RNA Sequence

  2. XR_001745598.2 RNA Sequence

  3. XR_928351.3 RNA Sequence

  4. XR_928352.3 RNA Sequence

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