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    FAM241B family with sequence similarity 241 member B [ Homo sapiens (human) ]

    Gene ID: 219738, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM241Bprovided by HGNC
    Official Full Name
    family with sequence similarity 241 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:23519
    See related
    Ensembl:ENSG00000171224 AllianceGenome:HGNC:23519
    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
    C10orf35
    Summary
    Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 5.1), testis (RPKM 3.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM241B in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (69630247..69633596)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (70498296..70501645)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (71390003..71393352)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MT-ND2 pseudogene 15 Neighboring gene MT-ND1 pseudogene 20 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71390546-71391431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71412271-71412952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71415742-71416520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71416521-71417298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71422303-71423252 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71445612-71446112 Neighboring gene long intergenic non-protein coding RNA 2651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71469507-71470006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71488132-71488934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71491927-71492581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71498859-71499463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71516819-71517320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71527262-71528026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71528027-71528790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71528791-71529554 Neighboring gene ribosomal protein L5 pseudogene 26

    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. CRISPR knockout screen implicates three genes in lysosome function. Lenk GM, et al. Sci Rep, 2019 Jul 3. PMID 31270356, Free PMC Article
    2. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, et al. Nat Genet, 2014 Mar. PMID 24509480, Free PMC Article
    3. Protein-protein interaction panel using mouse full-length cDNAs. Suzuki H, et al. Genome Res, 2001 Oct. PMID 11591653, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. Protein interactome mining defines melatonin MT1 receptors as integral component of presynaptic protein complexes of neurons. Benleulmi-Chaachoua A, et al. J Pineal Res, 2016 Jan. PMID 26514267

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    EBI GWAS Catalog

    Description
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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
    protein FAM241B
    Names
    uncharacterized protein C10orf35

    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_145306.3 → NP_660349.1  protein FAM241B

      See identical proteins and their annotated locations for NP_660349.1

      Status: VALIDATED

      Source sequence(s)
      BC013587, CK903062, DB339258, DB465414
      Consensus CDS
      CCDS7295.1
      UniProtKB/Swiss-Prot
      Q96D05
      Related
      ENSP00000362376.4, ENST00000373279.6
      Conserved Domains (1) summary
      pfam15378
      Location:62 → 92
      DUF4605; Domain of unknown function (DUF4605)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      69630247..69633596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269606.3 → XP_005269663.1  protein FAM241B isoform X1

      UniProtKB/Swiss-Prot
      Q96D05
      Conserved Domains (1) summary
      pfam15378
      Location:105 → 134
      DUF4605; Domain of unknown function (DUF4605)

    2. XM_005269608.4 → XP_005269665.1  protein FAM241B isoform X2

      See identical proteins and their annotated locations for XP_005269665.1

      UniProtKB/Swiss-Prot
      Q96D05
      Conserved Domains (1) summary
      pfam15378
      Location:62 → 92
      DUF4605; Domain of unknown function (DUF4605)

    3. XM_011539455.3 → XP_011537757.1  protein FAM241B isoform X2

      See identical proteins and their annotated locations for XP_011537757.1

      UniProtKB/Swiss-Prot
      Q96D05
      Conserved Domains (1) summary
      pfam15378
      Location:62 → 92
      DUF4605; Domain of unknown function (DUF4605)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      70498296..70501645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365009.1 → XP_054220984.1  protein FAM241B isoform X2

      UniProtKB/Swiss-Prot
      Q96D05

    2. XM_054365008.1 → XP_054220983.1  protein FAM241B isoform X1

    3. XM_054365010.1 → XP_054220985.1  protein FAM241B isoform X2

      UniProtKB/Swiss-Prot
      Q96D05
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96D05.1 GenPept UniProtKB/Swiss-Prot:Q96D05

    Gene LinkOut

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