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    FAM240C family with sequence similarity 240 member C [ Homo sapiens (human) ]

    Gene ID: 285095, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM240Cprovided by HGNC
    Official Full Name
    family with sequence similarity 240 member Cprovided by HGNC
    Primary source
    HGNC:HGNC:54200
    See related
    Ensembl:ENSG00000216921 AllianceGenome:HGNC:54200
    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 fat (RPKM 1.7), pancreas (RPKM 1.6) and 9 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    2q37.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241893988..241902585, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (242397499..242410528, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242836139..242844736, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242813965-242814521 Neighboring gene uncharacterized LOC105373978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242822944-242823534 Neighboring gene long intergenic non-protein coding RNA 1237 Neighboring gene receptor transporter protein 5 (putative) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242842086-242842730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242842731-242843374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242843375-242844020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242884151-242884650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242892163-242892811 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242892812-242893459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242907927-242908434 Neighboring gene long intergenic non-protein coding RNA 1238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242927157-242927693 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_58196 and experimental_58198 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:242946994-242947615 Neighboring gene uncharacterized FLJ38379

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Clone Names

    • AC131097.4

    General protein information

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    Preferred Names
    protein FAM240C

    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.

    mRNA and Protein(s)

    1. NM_001382368.1 → NP_001369297.1  protein FAM240C isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2).
      Source sequence(s)
      AA193593, AC131097, BX108328, HY129633
      Consensus CDS
      CCDS92996.1
      UniProtKB/Swiss-Prot
      A0A1B0GVR7
      Related
      ENSP00000490626.1, ENST00000404031.6

    2. NM_001382369.1 → NP_001369298.1  protein FAM240C isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AA193593, AA250751, HY129633
      Consensus CDS
      CCDS92995.1
      UniProtKB/TrEMBL
      A0A1B0GUP9, A0A1B0GVY8
      Related
      ENSP00000490196.1, ENST00000401641.2

    3. NM_001382370.1 → NP_001369299.1  protein FAM240C isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AA193593, DB296165, HY129633
      Consensus CDS
      CCDS92995.1
      UniProtKB/TrEMBL
      A0A1B0GUP9, A0A1B0GVY8
      Related
      ENSP00000490703.2, ENST00000452112.5

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241893988..241902585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187527.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      106086..114683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      242397499..242410528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GVR7.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GVR7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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