U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 84310, updated on 1-Mar-2024

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 AllianceGenome:HGNC:22421
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
Summary
Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022]
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:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (977964..1138257, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1082961..1240814, complement)
105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 17830 Neighboring gene uncharacterized LOC124901569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:994600-995209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1002516-1003103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1006706-1007206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1007207-1007707 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1014408-1015290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1015291-1016171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1028403-1029003 Neighboring gene cytochrome c oxidase assembly factor COX19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1036874-1037414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1038871-1039460 Neighboring gene uncharacterized LOC124901570 Neighboring gene cytochrome P450 family 2 subfamily W member 1 Neighboring gene nonconserved acetylation island sequence 100 enhancer Neighboring gene hESC enhancers GRCh37_chr7:1067181-1067915 and GRCh37_chr7:1067916-1068649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1075522-1076044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1076045-1076566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1080290-1080797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1081305-1081812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1083301-1083856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17842 Neighboring gene microRNA 339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1091635-1092615 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:1095105-1095810 and GRCh37_chr7:1095811-1096516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25486 Neighboring gene Sharpr-MPRA regulatory region 11358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25487 Neighboring gene uncharacterized LOC105375120 Neighboring gene G protein-coupled receptor 146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1109435-1110218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1110219-1111001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1135129-1135838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1140145-1140645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1147881-1148424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1149827-1150667 Neighboring gene G protein-coupled estrogen receptor 1 Neighboring gene uncharacterized LOC102723758 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:1156037-1157236 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_97501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17845 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1185078-1185771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:1198934-1199448 Neighboring gene hESC enhancers GRCh37_chr7:1199449-1199961 and GRCh37_chr7:1199962-1200475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1200476-1200988 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

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Joint influence of small-effect genetic variants on human longevity.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
    UniProtKB/TrEMBL
    C9JQV0
    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
    UniProtKB/TrEMBL
    C9JQV0
    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
    UniProtKB/TrEMBL
    C9JQV0
    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
    UniProtKB/TrEMBL
    C9JQV0
    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
    UniProtKB/TrEMBL
    H7C0T1
    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_001424325.1NP_001411254.1  uncharacterized protein C7orf50 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC073957, AC091729
    UniProtKB/TrEMBL
    C9JQV0
  8. NM_001424326.1NP_001411255.1  uncharacterized protein C7orf50 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC073957, AC091729
    UniProtKB/TrEMBL
    C9JQV0
  9. NM_001424327.1NP_001411256.1  uncharacterized protein C7orf50 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC073957
  10. NM_001424329.1NP_001411258.1  uncharacterized protein C7orf50 isoform g

    Status: VALIDATED

    Source sequence(s)
    AC073957
  11. NM_001424333.1NP_001411262.1  uncharacterized protein C7orf50 isoform a

    Status: VALIDATED

    Source sequence(s)
    CP068271
    UniProtKB/Swiss-Prot
    Q9BRJ6
    UniProtKB/TrEMBL
    C9JQV0
  12. NM_001424334.1NP_001411263.1  uncharacterized protein C7orf50 isoform a

    Status: VALIDATED

    Source sequence(s)
    CP068271
    UniProtKB/Swiss-Prot
    Q9BRJ6
    UniProtKB/TrEMBL
    C9JQV0
  13. NM_001424335.1NP_001411264.1  uncharacterized protein C7orf50 isoform b

    Status: VALIDATED

    Source sequence(s)
    CP068271
    UniProtKB/TrEMBL
    C9JQV0
  14. NM_001424336.1NP_001411265.1  uncharacterized protein C7orf50 isoform e

    Status: VALIDATED

    Source sequence(s)
    CP068271
    UniProtKB/TrEMBL
    C9JQV0
  15. NM_001424337.1NP_001411266.1  uncharacterized protein C7orf50 isoform d

    Status: VALIDATED

    Source sequence(s)
    CP068271
  16. 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
    UniProtKB/TrEMBL
    C9JQV0
    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
  8. NR_188522.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  9. NR_188523.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  10. NR_188524.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  11. NR_188525.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  12. NR_188526.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957
  13. NR_188533.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073957

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    977964..1138257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    1082961..1240814 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)