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    SLC25A36 solute carrier family 25 member 36 [ Homo sapiens (human) ]

    Gene ID: 55186, updated on 15-Jun-2019

    Summary

    Official Symbol
    SLC25A36provided by HGNC
    Official Full Name
    solute carrier family 25 member 36provided by HGNC
    Primary source
    HGNC:HGNC:25554
    See related
    Ensembl:ENSG00000114120 MIM:616149
    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
    PNC2
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.4), endometrium (RPKM 15.5) and 24 other tissues See more
    Orthologs

    Genomic context

    See SLC25A36 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (140941820..140979943)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (140660662..140698785)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 42 Neighboring gene ribosomal protein L23a pseudogene 41 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 4 Neighboring gene 2-phosphoxylose phosphatase 1 Neighboring gene ribosomal protein L31 pseudogene 21

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    NHGRI GWA Catalog
    Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10618, DKFZp564C053

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    pyrimidine nucleotide transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pyrimidine nucleotide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    mitochondrial genome maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyrimidine nucleotide import into mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pyrimidine nucleotide transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    solute carrier family 25 member 36
    Names
    epididymis secretory sperm binding protein
    solute carrier family 25 (pyrimidine nucleotide carrier ), member 36

    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_001104647.2NP_001098117.1  solute carrier family 25 member 36 isoform a

      See identical proteins and their annotated locations for NP_001098117.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC108727, AC132032
      Consensus CDS
      CCDS46927.1
      UniProtKB/Swiss-Prot
      Q96CQ1
      Related
      ENSP00000320688.6, ENST00000324194.10
      Conserved Domains (1) summary
      pfam00153
      Location:2113
      Mito_carr; Mitochondrial carrier protein
    2. NM_018155.3NP_060625.2  solute carrier family 25 member 36 isoform b

      See identical proteins and their annotated locations for NP_060625.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC108727, AC132032
      Consensus CDS
      CCDS3114.1
      UniProtKB/Swiss-Prot
      Q96CQ1
      Related
      ENSP00000401938.2, ENST00000446041.6
      Conserved Domains (2) summary
      PTZ00169
      Location:5289
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:2113
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: Homo sapiens 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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      140941836..140980978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247575.5XP_005247632.1  solute carrier family 25 member 36 isoform X1

      Conserved Domains (1) summary
      pfam00153
      Location:22101
      Mito_carr; Mitochondrial carrier protein
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