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    FAM117B family with sequence similarity 117 member B [ Homo sapiens (human) ]

    Gene ID: 150864, updated on 19-Sep-2024

    Summary

    Official Symbol
    FAM117Bprovided by HGNC
    Official Full Name
    family with sequence similarity 117 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:14440
    See related
    Ensembl:ENSG00000138439 AllianceGenome:HGNC:14440
    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
    ALS2CR13
    Expression
    Ubiquitous expression in testis (RPKM 4.9), adrenal (RPKM 4.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FAM117B in Genome Data Viewer
    Location:
    2q33.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (202634969..202769757)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (203116388..203251211)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203499692..203634480)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MT-ND4 pseudogene 30 Neighboring gene MT-CO1 pseudogene 54 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17003 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:203579150-203579831 Neighboring gene MPRA-validated peak4017 silencer Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Y pseudogene Neighboring gene islet cell autoantigen 1 like Neighboring gene keratin 8 pseudogene 15

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ38771, DKFZp686H01244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    protein FAM117B
    Names
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein

    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_173511.4NP_775782.2  protein FAM117B

      See identical proteins and their annotated locations for NP_775782.2

      Status: VALIDATED

      Source sequence(s)
      AC009960, AC098831, AK096090, BX537704, CN397358
      Consensus CDS
      CCDS33362.2
      UniProtKB/Swiss-Prot
      Q53QZ5, Q585T9, Q6P1L5, Q8N8W1, Q96Q34
      Related
      ENSP00000376071.2, ENST00000392238.3
      Conserved Domains (1) summary
      pfam15388
      Location:218529
      FAM117; Protein Family FAM117

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      202634969..202769757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      203116388..203251211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)