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    FAM9B family with sequence similarity 9 member B [ Homo sapiens (human) ]

    Gene ID: 171483, updated on 9-Dec-2024

    Summary

    Official Symbol
    FAM9Bprovided by HGNC
    Official Full Name
    family with sequence similarity 9 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:18404
    See related
    Ensembl:ENSG00000177138 MIM:300478; AllianceGenome:HGNC:18404
    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
    TEX39B
    Summary
    This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]
    Expression
    Biased expression in testis (RPKM 1.2), endometrium (RPKM 0.2) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FAM9B in Genome Data Viewer
    Location:
    Xp22.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (9024232..9034127, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (8591248..8601142, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (8992273..9002168, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3114 Neighboring gene NOLC1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29397 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:9098527-9099726 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9102725-9103225 Neighboring gene RNA, 5S ribosomal pseudogene 499 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9112116-9112640 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9112641-9113166 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9116815-9117320 Neighboring gene BRICK1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ40182

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in meiotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synaptonemal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protein FAM9B
    Names
    testis expressed 39B

    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_205849.3NP_995321.1  protein FAM9B

      See identical proteins and their annotated locations for NP_995321.1

      Status: VALIDATED

      Source sequence(s)
      AC074281, AF494344
      Consensus CDS
      CCDS14132.1
      UniProtKB/Swiss-Prot
      Q0IJ68, Q8IZU0, Q8N7Z8
      Related
      ENSP00000318716.5, ENST00000327220.10
      Conserved Domains (1) summary
      pfam04803
      Location:61186
      Cor1; Cor1/Xlr/Xmr conserved region

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      9024232..9034127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441882.1XP_047297838.1  protein FAM9B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      8591248..8601142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326600.1XP_054182575.1  protein FAM9B isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173696.1: Suppressed sequence

      Description
      NM_173696.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.