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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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