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    FAM229B family with sequence similarity 229 member B [ Homo sapiens (human) ]

    Gene ID: 619208, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM229Bprovided by HGNC
    Official Full Name
    family with sequence similarity 229 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:33858
    See related
    Ensembl:ENSG00000203778 AllianceGenome:HGNC:33858
    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
    C6orf225
    Expression
    Biased expression in testis (RPKM 37.5), brain (RPKM 9.0) and 10 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See FAM229B in Genome Data Viewer
    Location:
    6q21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (112087591..112102790)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (113271009..113286208)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (112408794..112423993)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cellular communication network factor 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:112408399-112408930 Neighboring gene tubulin epsilon 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:112421446-112422235 Neighboring gene MPRA-validated peak6040 silencer Neighboring gene MPRA-validated peak6041 silencer Neighboring gene uncharacterized LOC107986633 Neighboring gene laminin subunit alpha 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24961 Neighboring gene RNA, U6 small nuclear 1226, pseudogene

    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. Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases. Buljan M, et al. Mol Cell, 2020 Aug 6. PMID 32707033, Free PMC Article
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp586F0922

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    protein FAM229B
    Names
    UPF0731 protein C6orf225

    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_001033564.3 → NP_001028736.1  protein FAM229B

      See identical proteins and their annotated locations for NP_001028736.1

      Status: VALIDATED

      Source sequence(s)
      BC044912, BF110308, Z99289
      Consensus CDS
      CCDS34513.1
      UniProtKB/Swiss-Prot
      B8ZZ33, Q4G0N7
      Related
      ENSP00000357645.2, ENST00000368656.7
      Conserved Domains (1) summary
      pfam14982
      Location:3 → 80
      UPF0731; UPF0731 family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      112087591..112102790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011174.3 → XP_016866663.1  protein FAM229B isoform X1

      UniProtKB/Swiss-Prot
      B8ZZ33, Q4G0N7
      Conserved Domains (1) summary
      pfam14982
      Location:3 → 80
      UPF0731; UPF0731 family

    2. XM_017011175.3 → XP_016866664.1  protein FAM229B isoform X1

      UniProtKB/Swiss-Prot
      B8ZZ33, Q4G0N7
      Conserved Domains (1) summary
      pfam14982
      Location:3 → 80
      UPF0731; UPF0731 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      113271009..113286208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356186.1 → XP_054212161.1  protein FAM229B isoform X1

      UniProtKB/Swiss-Prot
      B8ZZ33, Q4G0N7

    2. XM_054356187.1 → XP_054212162.1  protein FAM229B isoform X1

      UniProtKB/Swiss-Prot
      B8ZZ33, Q4G0N7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4G0N7.1 GenPept UniProtKB/Swiss-Prot:Q4G0N7

    Gene LinkOut

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

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