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C12orf42 chromosome 12 open reading frame 42 [ Homo sapiens (human) ]

Gene ID: 374470, updated on 3-Apr-2018

Summary

Official Symbol
C12orf42provided by HGNC
Official Full Name
chromosome 12 open reading frame 42provided by HGNC
Primary source
HGNC:HGNC:24729
See related
Ensembl:ENSG00000179088 Vega:OTTHUMG00000169988
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
Biased expression in testis (RPKM 2.3), spleen (RPKM 0.3) and 2 other tissues See more
Orthologs

Genomic context

See C12orf42 in Genome Data Viewer
Location:
12q23.2-q23.3
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (103047669..103525258, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (103631369..103889788, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1114 Neighboring gene VISTA enhancers hs998, hs1354 and hs1540 Neighboring gene VISTA enhancer hs967 Neighboring gene uncharacterized LOC101929058 Neighboring gene VISTA enhancer hs1575 Neighboring gene VISTA enhancer hs1723 Neighboring gene uncharacterized LOC105369945 Neighboring gene glutaryl-CoA dehydrogenase, mitochondrial-like Neighboring gene long intergenic non-protein coding RNA 2401 Neighboring gene stabilin 2 Neighboring gene uncharacterized LOC105369946

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ25323, MGC43592, MGC57409

General protein information

Preferred Names
uncharacterized protein C12orf42

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_001099336.2NP_001092806.1  uncharacterized protein C12orf42 isoform 1

    See identical proteins and their annotated locations for NP_001092806.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    AK058052, BI830750, HY002043, HY015666, HY193513
    Consensus CDS
    CCDS44963.1
    UniProtKB/Swiss-Prot
    Q96LP6
    Related
    ENSP00000367353.2, ENST00000378113.6
    Conserved Domains (1) summary
    pfam15380
    Location:96359
    DUF4607; Domain of unknown function (DUF4607)
  2. NM_001278419.1NP_001265348.1  uncharacterized protein C12orf42 isoform 2

    See identical proteins and their annotated locations for NP_001265348.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an additional exon in the central region, which results in a downstream start codon, compared to variant 2. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK058052, BC044617, HY002043, HY015666, HY193513
    UniProtKB/Swiss-Prot
    Q96LP6
    Conserved Domains (1) summary
    pfam15380
    Location:1264
    DUF4607; Domain of unknown function (DUF4607)
  3. NM_001278420.1NP_001265349.1  uncharacterized protein C12orf42 isoform 2

    See identical proteins and their annotated locations for NP_001265349.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the 5' UTR and an additional exon in the central region, which results in a downstream start codon, compared to variant 2. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK058052, HY015666, HY193513
    UniProtKB/Swiss-Prot
    Q96LP6
    Conserved Domains (1) summary
    pfam15380
    Location:1264
    DUF4607; Domain of unknown function (DUF4607)
  4. NM_198521.3NP_940923.2  uncharacterized protein C12orf42 isoform 1

    See identical proteins and their annotated locations for NP_940923.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) has an alternate splice site in the 5' UTR, compared to variant 2. Variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    AK058052, HY015666, HY193513
    Consensus CDS
    CCDS44963.1
    UniProtKB/Swiss-Prot
    Q96LP6
    Related
    ENSP00000447908.1, OTTHUMP00000242560, ENST00000548883.5, OTTHUMT00000406754
    Conserved Domains (1) summary
    pfam15380
    Location:96359
    DUF4607; Domain of unknown function (DUF4607)

RNA

  1. NR_103526.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has an alternate splice site in the 5' region and lacks last two exons but has several alternate 3' terminal exons, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC039352, HY015666
    Related
    ENST00000547347.5, OTTHUMT00000406943

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_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    103047669..103525258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019281.1XP_016874770.1  uncharacterized protein C12orf42 isoform X10

  2. XM_011538312.2XP_011536614.1  uncharacterized protein C12orf42 isoform X9

  3. XM_011538315.2XP_011536617.1  uncharacterized protein C12orf42 isoform X11

  4. XM_011538308.2XP_011536610.1  uncharacterized protein C12orf42 isoform X8

  5. XM_011538294.2XP_011536596.1  uncharacterized protein C12orf42 isoform X3

    Conserved Domains (1) summary
    pfam15380
    Location:92355
    DUF4607; Domain of unknown function (DUF4607)
  6. XM_011538306.1XP_011536608.1  uncharacterized protein C12orf42 isoform X7

    Conserved Domains (1) summary
    pfam15380
    Location:105254
    DUF4607; Domain of unknown function (DUF4607)
  7. XM_011538291.1XP_011536593.1  uncharacterized protein C12orf42 isoform X1

    Conserved Domains (1) summary
    pfam15380
    Location:115378
    DUF4607; Domain of unknown function (DUF4607)
  8. XM_024448971.1XP_024304739.1  uncharacterized protein C12orf42 isoform X5

    Conserved Domains (1) summary
    pfam15380
    Location:57320
    DUF4607; Domain of unknown function (DUF4607)
  9. XM_011538292.2XP_011536594.1  uncharacterized protein C12orf42 isoform X2

    See identical proteins and their annotated locations for XP_011536594.1

    UniProtKB/Swiss-Prot
    Q96LP6
    Conserved Domains (1) summary
    pfam15380
    Location:96359
    DUF4607; Domain of unknown function (DUF4607)
  10. XM_017019276.1XP_016874765.1  uncharacterized protein C12orf42 isoform X2

    UniProtKB/Swiss-Prot
    Q96LP6
    Conserved Domains (1) summary
    pfam15380
    Location:96359
    DUF4607; Domain of unknown function (DUF4607)
  11. XM_011538293.2XP_011536595.1  uncharacterized protein C12orf42 isoform X2

    See identical proteins and their annotated locations for XP_011536595.1

    UniProtKB/Swiss-Prot
    Q96LP6
    Conserved Domains (1) summary
    pfam15380
    Location:96359
    DUF4607; Domain of unknown function (DUF4607)
  12. XM_011538295.1XP_011536597.1  uncharacterized protein C12orf42 isoform X4

    Conserved Domains (1) summary
    pfam15380
    Location:71334
    DUF4607; Domain of unknown function (DUF4607)
  13. XM_017019278.1XP_016874767.1  uncharacterized protein C12orf42 isoform X5

    Conserved Domains (1) summary
    pfam15380
    Location:57320
    DUF4607; Domain of unknown function (DUF4607)
  14. XM_017019280.1XP_016874769.1  uncharacterized protein C12orf42 isoform X6

    UniProtKB/TrEMBL
    F8VV63
    Related
    ENSP00000449362.1, OTTHUMP00000242655, ENST00000548048.5, OTTHUMT00000406947
    Conserved Domains (1) summary
    pfam15380
    Location:29292
    DUF4607; Domain of unknown function (DUF4607)
  15. XM_017019279.1XP_016874768.1  uncharacterized protein C12orf42 isoform X6

    UniProtKB/TrEMBL
    F8VV63
    Conserved Domains (1) summary
    pfam15380
    Location:29292
    DUF4607; Domain of unknown function (DUF4607)
  16. XM_017019277.1XP_016874766.1  uncharacterized protein C12orf42 isoform X5

    Conserved Domains (1) summary
    pfam15380
    Location:57320
    DUF4607; Domain of unknown function (DUF4607)
  17. XM_011538300.1XP_011536602.1  uncharacterized protein C12orf42 isoform X5

    See identical proteins and their annotated locations for XP_011536602.1

    Conserved Domains (1) summary
    pfam15380
    Location:57320
    DUF4607; Domain of unknown function (DUF4607)
  18. XM_011538305.1XP_011536607.1  uncharacterized protein C12orf42 isoform X6

    See identical proteins and their annotated locations for XP_011536607.1

    UniProtKB/TrEMBL
    F8VV63
    Conserved Domains (1) summary
    pfam15380
    Location:29292
    DUF4607; Domain of unknown function (DUF4607)
  19. XM_011538297.2XP_011536599.1  uncharacterized protein C12orf42 isoform X5

    See identical proteins and their annotated locations for XP_011536599.1

    Conserved Domains (1) summary
    pfam15380
    Location:57320
    DUF4607; Domain of unknown function (DUF4607)
  20. XM_006719377.3XP_006719440.1  uncharacterized protein C12orf42 isoform X6

    See identical proteins and their annotated locations for XP_006719440.1

    UniProtKB/TrEMBL
    F8VV63
    Conserved Domains (1) summary
    pfam15380
    Location:29292
    DUF4607; Domain of unknown function (DUF4607)

RNA

  1. XR_001748690.1 RNA Sequence

  2. XR_001748694.1 RNA Sequence

  3. XR_001748693.1 RNA Sequence

  4. XR_001748692.1 RNA Sequence

  5. XR_001748691.1 RNA Sequence

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