Format

Send to:

Choose Destination

C7orf50 chromosome 7 open reading frame 50 [ Homo sapiens (human) ]

Gene ID: 84310, updated on 5-Sep-2021

Summary

Official Symbol
C7orf50provided by HGNC
Official Full Name
chromosome 7 open reading frame 50provided by HGNC
Primary source
HGNC:HGNC:22421
See related
Ensembl:ENSG00000146540
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
YCR016W
Expression
Ubiquitous expression in kidney (RPKM 5.2), brain (RPKM 3.9) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See C7orf50 in Genome Data Viewer
Location:
7p22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (977964..1138325, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1017600..1177893, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ArfGAP with dual PH domains 1 Neighboring gene cytochrome c oxidase assembly factor COX19 Neighboring gene cytochrome P450 family 2 subfamily W member 1 Neighboring gene nonconserved acetylation island sequence 100 enhancer Neighboring gene microRNA 339 Neighboring gene uncharacterized LOC107986755 Neighboring gene Sharpr-MPRA regulatory region 11358 Neighboring gene G protein-coupled receptor 146 Neighboring gene uncharacterized LOC105375120 Neighboring gene G protein-coupled estrogen receptor 1 Neighboring gene uncharacterized LOC102723758 Neighboring gene zinc finger AN1-type containing 2A Neighboring gene ZFAND2A divergent transcript

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

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Joint influence of small-effect genetic variants on human longevity.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC11257

General protein information

Preferred Names
uncharacterized protein C7orf50

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.

mRNA and Protein(s)

  1. NM_001134395.1NP_001127867.1  uncharacterized protein C7orf50 isoform a

    See identical proteins and their annotated locations for NP_001127867.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    BC006224, BM676072, CN261680
    Consensus CDS
    CCDS5320.1
    UniProtKB/Swiss-Prot
    Q9BRJ6
    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  2. NM_001134396.1NP_001127868.1  uncharacterized protein C7orf50 isoform a

    See identical proteins and their annotated locations for NP_001127868.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    BC006224, BM676072, BM763235
    Consensus CDS
    CCDS5320.1
    UniProtKB/Swiss-Prot
    Q9BRJ6
    Related
    ENSP00000380288.2, ENST00000397100.6
    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  3. NM_001318252.2NP_001305181.1  uncharacterized protein C7orf50 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    AC091729, AF495721, BC006224
    Consensus CDS
    CCDS5320.1
    UniProtKB/Swiss-Prot
    Q9BRJ6
    Related
    ENSP00000380286.3, ENST00000397098.8
    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  4. NM_001350968.1NP_001337897.1  uncharacterized protein C7orf50 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC073957, AC091729
    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; Uncharacterized conserved protein (DUF2373)
  5. NM_001350969.2NP_001337898.1  uncharacterized protein C7orf50 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC073957
    Conserved Domains (1) summary
    pfam10180
    Location:90151
    DUF2373; Uncharacterized conserved protein (DUF2373)
  6. NM_001350970.1NP_001337899.1  uncharacterized protein C7orf50 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC091729
  7. NM_032350.5NP_115726.1  uncharacterized protein C7orf50 isoform a

    See identical proteins and their annotated locations for NP_115726.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-4 all encode the same isoform (a).
    Source sequence(s)
    BC006224, BM676072
    Consensus CDS
    CCDS5320.1
    UniProtKB/Swiss-Prot
    Q9BRJ6
    Related
    ENSP00000350011.5, ENST00000357429.10
    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)

RNA

  1. NR_134537.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two 5' exons and uses an alternate 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC006224, BM762287
    Related
    ENST00000412051.5
  2. NR_134538.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks several exons and contains two alternate exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC073957, BC025971, BF129057, BQ006497
    Related
    ENST00000465681.1
  3. NR_146964.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  4. NR_146965.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  5. NR_146966.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  6. NR_146967.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  7. NR_156697.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    977964..1138325 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012721.2XP_016868210.1  uncharacterized protein C7orf50 isoform X5

    Conserved Domains (1) summary
    pfam10180
    Location:90151
    DUF2373; uncharacterized conserved protein (DUF2373)
  2. XM_017012720.2XP_016868209.1  uncharacterized protein C7orf50 isoform X3

    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  3. XM_011515581.3XP_011513883.1  uncharacterized protein C7orf50 isoform X3

    See identical proteins and their annotated locations for XP_011513883.1

    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  4. XM_011515583.2XP_011513885.1  uncharacterized protein C7orf50 isoform X3

    See identical proteins and their annotated locations for XP_011513885.1

    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  5. XM_011515582.3XP_011513884.1  uncharacterized protein C7orf50 isoform X3

    See identical proteins and their annotated locations for XP_011513884.1

    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  6. XM_011515584.2XP_011513886.1  uncharacterized protein C7orf50 isoform X3

    See identical proteins and their annotated locations for XP_011513886.1

    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; uncharacterized conserved protein (DUF2373)
  7. XM_017012719.1XP_016868208.1  uncharacterized protein C7orf50 isoform X2

  8. XM_024446977.1XP_024302745.1  uncharacterized protein C7orf50 isoform X4

    Conserved Domains (1) summary
    pfam10180
    Location:104165
    DUF2373; Uncharacterized conserved protein (DUF2373)
  9. XM_024446978.1XP_024302746.1  uncharacterized protein C7orf50 isoform X6

    Conserved Domains (1) summary
    pfam10180
    Location:90151
    DUF2373; Uncharacterized conserved protein (DUF2373)
  10. XM_024446979.1XP_024302747.1  uncharacterized protein C7orf50 isoform X7

Support Center