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    FAM241A family with sequence similarity 241 member A [ Homo sapiens (human) ]

    Gene ID: 132720, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM241Aprovided by HGNC
    Official Full Name
    family with sequence similarity 241 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:26813
    See related
    Ensembl:ENSG00000174749 AllianceGenome:HGNC:26813
    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
    C4orf32
    Summary
    Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 33.5), placenta (RPKM 13.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q25
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (112145454..112195256)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (115453815..115503598)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (113066610..113116412)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377370 Neighboring gene ribosomal protein S12 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21820 Neighboring gene ribosomal protein L36a pseudogene 19 Neighboring gene Sharpr-MPRA regulatory region 3285 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:113152716-113153663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15636 Neighboring gene AP1AR divergent transcript Neighboring gene adaptor related protein complex 1 associated regulatory protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15637 Neighboring gene TRAF interacting protein with forkhead associated domain

    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. Association study of 25 type 2 diabetes related Loci with measures of obesity in Indian sib pairs. Gupta V, et al. PLoS One, 2013. PMID 23349771, Free PMC Article
    2. Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Hertel JK, et al. Diabetologia, 2008 Jun. PMID 18437351
    3. Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry. Cornelis MC, et al. Ann Intern Med, 2009 Apr 21. PMID 19380854, Free PMC Article
    4. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. Kalsi G, et al. Hum Mol Genet, 2010 Jun 15. PMID 20332099, Free PMC Article
    5. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data indicate associations of SNPs in eight loci CXCR4, HHEX, FOXA2, NGN3, TCF7L2, FLJ39370 (C4orf32), LOC646279 (RPL21P7) and THADA with body mass index (BMI) and weight.
      Title: Association study of 25 type 2 diabetes related Loci with measures of obesity in Indian sib pairs.
    2. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39370

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein FAM241A
    Names
    uncharacterized protein C4orf32

    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_152400.3 → NP_689613.2  uncharacterized protein FAM241A

      Status: VALIDATED

      Source sequence(s)
      AC093663, AC109347
      Consensus CDS
      CCDS3695.1
      UniProtKB/Swiss-Prot
      Q49A91, Q4W5C7, Q8N8J7, Q8TBF9
      Related
      ENSP00000310182.4, ENST00000309733.6
      Conserved Domains (1) summary
      pfam15378
      Location:74 → 128
      DUF4605; Domain of unknown function (DUF4605)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      112145454..112195256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      115453815..115503598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8J7.2 GenPept UniProtKB/Swiss-Prot:Q8N8J7

    Gene LinkOut

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

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