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FAM110B family with sequence similarity 110 member B [ Homo sapiens (human) ]

Gene ID: 90362, updated on 19-Sep-2024

Summary

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Official Symbol
FAM110Bprovided by HGNC
Official Full Name
family with sequence similarity 110 member Bprovided by HGNC
Primary source
HGNC:HGNC:28587
See related
Ensembl:ENSG00000169122 MIM:611394; AllianceGenome:HGNC:28587
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
C8orf72
Summary
Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 2.9), brain (RPKM 1.5) and 19 other tissues See more
Orthologs
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Genomic context

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See FAM110B in Genome Data Viewer
Location:
8q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (57994523..58148784)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (58416010..58570300)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (58907082..59061343)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375856 Neighboring gene MPRA-validated peak7034 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:58831444-58831956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:58831957-58832467 Neighboring gene NANOG hESC enhancer GRCh37_chr8:58887201-58887738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:58907533-58908033 Neighboring gene long intergenic non-protein coding RNA 1602 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:58926679-58927179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:58978669-58979170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59011059-59011722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59010395-59011058 Neighboring gene NANOG hESC enhancer GRCh37_chr8:59030663-59031236 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:59034986-59035605 Neighboring gene ribosomal protein L26 pseudogene 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59058363-59058965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59085063-59085589 Neighboring gene uncharacterized LOC107986945 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:59108481-59109680 Neighboring gene VISTA enhancer hs1364 Neighboring gene long intergenic non-protein coding RNA 3133

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. Integrative genomic, transcriptomic, and RNAi analysis indicates a potential oncogenic role for FAM110B in castration-resistant prostate cancer. Vainio P, et al. Prostate, 2012 May 15. PMID 21919029
  2. Characterization of the FAM110 gene family. Hauge H, et al. Genomics, 2007 Jul. PMID 17499476
  3. Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. He J, et al. Circ Cardiovasc Genet, 2013 Dec. PMID 24165912, Free PMC Article
  4. Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. Zeng Z, et al. Caries Res, 2014. PMID 24556642, Free PMC Article
  5. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Wang KS, et al. Schizophr Res, 2010 Dec. PMID 20889312

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FAM110B was able to regulate androgen receptor signaling in prostate cancer cells and FAM110B itself was regulated by androgens. FAM110B siRNA inhibited the growth of prostate cancer cells in vitro.
    Title: Integrative genomic, transcriptomic, and RNAi analysis indicates a potential oncogenic role for FAM110B in castration-resistant prostate cancer.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
  4. Localizes to centrosomes and accumulates at the microtubule organization center in interphase and at spindle poles in mitosis; ectopic expression impairs cell cycle progression in the G1 phase.
    Title: Characterization of the FAM110 gene family.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
EBI GWAS Catalog
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
EBI GWAS Catalog
Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
EBI GWAS Catalog

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

Clone Names

  • MGC39325

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein FAM110B

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_001377989.1 → NP_001364918.1  protein FAM110B

    Status: VALIDATED

    Source sequence(s)
    AC104350, AC110013
    Consensus CDS
    CCDS6170.1
    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5
    Related
    ENSP00000509301.1, ENST00000519262.6
    Conserved Domains (2) summary
    pfam14160
    Location:253 → 361
    FAM110_C; Centrosome-associated C-terminus
    pfam14161
    Location:13 → 118
    FAM110_N; Centrosome-associated N-terminus

  2. NM_001377997.1 → NP_001364926.1  protein FAM110B

    Status: VALIDATED

    Source sequence(s)
    AC104350, AC110013
    Consensus CDS
    CCDS6170.1
    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5
    Conserved Domains (2) summary
    pfam14160
    Location:253 → 361
    FAM110_C; Centrosome-associated C-terminus
    pfam14161
    Location:13 → 118
    FAM110_N; Centrosome-associated N-terminus

  3. NM_001377998.1 → NP_001364927.1  protein FAM110B

    Status: VALIDATED

    Source sequence(s)
    AC104350, AC110013
    Consensus CDS
    CCDS6170.1
    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5
    Conserved Domains (2) summary
    pfam14160
    Location:253 → 361
    FAM110_C; Centrosome-associated C-terminus
    pfam14161
    Location:13 → 118
    FAM110_N; Centrosome-associated N-terminus

  4. NM_147189.4 → NP_671722.1  protein FAM110B

    See identical proteins and their annotated locations for NP_671722.1

    Status: VALIDATED

    Source sequence(s)
    AC104350, AC110013, AK092221
    Consensus CDS
    CCDS6170.1
    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5
    Related
    ENSP00000355204.3, ENST00000361488.7
    Conserved Domains (2) summary
    pfam14160
    Location:253 → 361
    FAM110_C; Centrosome-associated C-terminus
    pfam14161
    Location:13 → 118
    FAM110_N; Centrosome-associated N-terminus

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    57994523..58148784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422400.1 → XP_047278356.1  protein FAM110B isoform X1

    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5

  2. XM_017013948.2 → XP_016869437.1  protein FAM110B isoform X1

    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5
    Conserved Domains (2) summary
    pfam14160
    Location:253 → 361
    FAM110_C; Centrosome-associated C-terminus
    pfam14161
    Location:13 → 118
    FAM110_N; Centrosome-associated N-terminus

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    58416010..58570300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361463.1 → XP_054217438.1  protein FAM110B isoform X1

    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5

  2. XM_054361462.1 → XP_054217437.1  protein FAM110B isoform X1

    UniProtKB/Swiss-Prot
    Q5BM08, Q8TC76, Q9Y4K2
    UniProtKB/TrEMBL
    B3KRT5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TC76.1 GenPept UniProtKB/Swiss-Prot:Q8TC76

Gene LinkOut

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