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    FAM221B family with sequence similarity 221 member B [ Homo sapiens (human) ]

    Gene ID: 392307, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM221Bprovided by HGNC
    Official Full Name
    family with sequence similarity 221 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:30762
    See related
    Ensembl:ENSG00000204930 AllianceGenome:HGNC:30762
    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
    C9orf128
    Expression
    Biased expression in testis (RPKM 2.8) and prostate (RPKM 0.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM221B in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35816391..35828732, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35837059..35849403, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35816388..35828729, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene natriuretic peptide receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35811777-35812333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28338 Neighboring gene sperm associated antigen 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19882 Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35829817-35830317 Neighboring gene transmembrane protein 8B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35835675-35836588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28340 Neighboring gene Sharpr-MPRA regulatory region 825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35846373-35847248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28343 Neighboring gene olfactory receptor family 13 subfamily E member 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35865013-35865512 Neighboring gene olfactory receptor family 13 subfamily J member 1

    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. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Ridanpää M, et al. Cell, 2001 Jan 26. PMID 11207361
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. 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)

    Genotypes

    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 

    General protein information

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    Preferred Names
    protein FAM221B
    Names
    uncharacterized protein C9orf128

    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_001012446.4 → NP_001012448.2  protein FAM221B

      See identical proteins and their annotated locations for NP_001012448.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is protein-coding.
      Source sequence(s)
      AL133410, BC146808, BX648702
      Consensus CDS
      CCDS43799.2
      UniProtKB/Swiss-Prot
      A6H8Z2, Q5TCW2
      Related
      ENSP00000415299.2, ENST00000423537.7
      Conserved Domains (2) summary
      pfam14753
      Location:249 → 393
      DUF4475; Domain of unknown function (DUF4475)
      pfam17061
      Location:12 → 168
      PARM; PARM

    RNA

    1. NR_052026.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL133410, BC146808, BX648702
      Related
      ENST00000388950.8

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35816391..35828732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447542.2 → XP_024303310.1  protein FAM221B isoform X4

      Conserved Domains (1) summary
      pfam14753
      Location:3 → 46
      FAM221; Protein FAM221A/B

    2. XM_024447541.2 → XP_024303309.1  protein FAM221B isoform X3

      Conserved Domains (1) summary
      pfam14753
      Location:3 → 147
      FAM221; Protein FAM221A/B

    3. XM_047423370.1 → XP_047279326.1  protein FAM221B isoform X1

    4. XM_006716768.4 → XP_006716831.1  protein FAM221B isoform X2

      Conserved Domains (2) summary
      pfam14753
      Location:249 → 392
      DUF4475; Domain of unknown function (DUF4475)
      pfam17061
      Location:12 → 168
      PARM; PARM

    5. XM_047423371.1 → XP_047279327.1  protein FAM221B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35837059..35849403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362960.1 → XP_054218935.1  protein FAM221B isoform X4

    2. XM_054362959.1 → XP_054218934.1  protein FAM221B isoform X3

    3. XM_054362957.1 → XP_054218932.1  protein FAM221B isoform X5

    4. XM_054362955.1 → XP_054218930.1  protein FAM221B isoform X1

    5. XM_054362958.1 → XP_054218933.1  protein FAM221B isoform X2

    6. XM_054362956.1 → XP_054218931.1  protein FAM221B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6H8Z2.2 GenPept UniProtKB/Swiss-Prot:A6H8Z2

    Gene LinkOut

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

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