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

Gene ID: 392307, updated on 19-Sep-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35816391..35828732, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35837059..35849403, complement)
RS_2024_09 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 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. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
  3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  5. 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

See all (6) citations in PubMed

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_2024_08

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

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