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

Gene ID: 83636, updated on 25-Aug-2021

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
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
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Genomic context

See C19orf12 in Genome Data Viewer
Location:
19q12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (29698886..29715789, complement)
105.20201022 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 pleckstrin homology and FYVE domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 11339 Neighboring gene uncharacterized LOC107985345 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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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.

Genomic

  1. NG_031970.2 RefSeqGene

    Range
    5001..21904
    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
    CCDS42542.1
    Related
    ENSP00000485413.2, ENST00000623113.2
  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/Swiss-Prot
    Q9NSK7
    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
    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
    Q9NSK7
    Related
    ENSP00000313332.9, ENST00000323670.14

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024451736.1XP_024307504.1  protein C19orf12 isoform X2

  2. XM_024451737.1XP_024307505.1  protein C19orf12 isoform X2

  3. XM_024451738.1XP_024307506.1  protein C19orf12 isoform X2

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

  5. XM_024451734.1XP_024307502.1  protein C19orf12 isoform X1

RNA

  1. XR_002958368.1 RNA Sequence

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