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    C19orf12 chromosome 19 open reading frame 12 [ Homo sapiens (human) ]

    Gene ID: 83636, updated on 1-Mar-2024

    Summary

    Official Symbol
    C19orf12provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 12provided by HGNC
    Primary source
    HGNC:HGNC:25443
    See related
    Ensembl:ENSG00000131943 MIM:614297; AllianceGenome:HGNC:25443
    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
    MPAN; NBIA3; NBIA4; SPG43
    Summary
    This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in fat (RPKM 24.8), brain (RPKM 6.3) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C19orf12 in Genome Data Viewer
    Location:
    19q12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (29698886..29715789, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (32224628..32241529, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (30189793..30206696, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372353 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:30156127-30156680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:30156681-30157234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14413 Neighboring gene pleckstrin homology and FYVE domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:30181190-30181742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:30181743-30182294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14418 Neighboring gene uncharacterized LOC107985345 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:30219444-30219638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30235811-30236312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30236313-30236812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30248109-30248688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30248689-30249267 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50922 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:30283256-30283456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10467 Neighboring gene cyclin E1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10922, DKFZp762D096

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein C19orf12
    Names
    membrane protein-associated neurodegeneration
    neurodegeneration with brain iron accumulation 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_031970.2 RefSeqGene

      Range
      5529..21853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031726.4NP_001026896.3  protein C19orf12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC010513, AC010644
      Consensus CDS
      CCDS12418.2
      UniProtKB/Swiss-Prot
      B3KQ16, Q0D2Q0, Q6P4C5, Q9BSL7, Q9NSK7
      Related
      ENSP00000485413.2, ENST00000623113.3
    2. NM_001256046.3NP_001242975.1  protein C19orf12 isoform 3

      See identical proteins and their annotated locations for NP_001242975.1

      Status: VALIDATED

      Source sequence(s)
      AC010513, AC010644, BC063518, BG722048
      Consensus CDS
      CCDS59373.1
      UniProtKB/TrEMBL
      K7EPS8
      Related
      ENSP00000467117.1, ENST00000592153.5
    3. NM_001256047.2NP_001242976.1  protein C19orf12 isoform 2

      See identical proteins and their annotated locations for NP_001242976.1

      Status: VALIDATED

      Source sequence(s)
      AC010513, AC010644, DA189248
      Consensus CDS
      CCDS12418.2
      UniProtKB/Swiss-Prot
      B3KQ16, Q0D2Q0, Q6P4C5, Q9BSL7, Q9NSK7
      Related
      ENSP00000482097.2, ENST00000614091.5
    4. NM_001282929.1NP_001269858.1  protein C19orf12 isoform 4

      See identical proteins and their annotated locations for NP_001269858.1

      Status: VALIDATED

      Source sequence(s)
      AC010513, AC010644, BI753584, DA348401
      Consensus CDS
      CCDS74325.1
      UniProtKB/Swiss-Prot
      Q9NSK7
      Related
      ENSP00000507573.1, ENST00000392275.1
    5. NM_001282930.3NP_001269859.1  protein C19orf12 isoform 4

      See identical proteins and their annotated locations for NP_001269859.1

      Status: VALIDATED

      Source sequence(s)
      AC010513, AC010644, BC004957, BG722048
      Consensus CDS
      CCDS74325.1
      UniProtKB/Swiss-Prot
      Q9NSK7
      Related
      ENSP00000376102.1, ENST00000392276.1
    6. NM_001282931.3NP_001269860.1  protein C19orf12 isoform 4

      See identical proteins and their annotated locations for NP_001269860.1

      Status: VALIDATED

      Source sequence(s)
      AC010513, AC010644, BG720088, BG722048
      Consensus CDS
      CCDS74325.1
      UniProtKB/Swiss-Prot
      Q9NSK7
    7. NM_031448.6NP_113636.2  protein C19orf12 isoform 2

      See identical proteins and their annotated locations for NP_113636.2

      Status: VALIDATED

      Source sequence(s)
      AC010513, AC010644, BG722048
      Consensus CDS
      CCDS12418.2
      UniProtKB/Swiss-Prot
      B3KQ16, Q0D2Q0, Q6P4C5, Q9BSL7, Q9NSK7
      Related
      ENSP00000313332.9, ENST00000323670.14

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      29698886..29715789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439496.1XP_047295452.1  protein C19orf12 isoform X1

    2. XM_024451735.2XP_024307503.1  protein C19orf12 isoform X2

      UniProtKB/Swiss-Prot
      B3KQ16, Q0D2Q0, Q6P4C5, Q9BSL7, Q9NSK7
    3. XM_024451734.2XP_024307502.1  protein C19orf12 isoform X1

    4. XM_047439497.1XP_047295453.1  protein C19orf12 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      32224628..32241529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322294.1XP_054178269.1  protein C19orf12 isoform X1

    2. XM_054322295.1XP_054178270.1  protein C19orf12 isoform X2

      UniProtKB/Swiss-Prot
      B3KQ16, Q0D2Q0, Q6P4C5, Q9BSL7, Q9NSK7
    3. XM_054322296.1XP_054178271.1  protein C19orf12 isoform X3