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FAM180B family with sequence similarity 180 member B [ Homo sapiens (human) ]

Gene ID: 399888, updated on 2-Nov-2024

Summary

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Official Symbol
FAM180Bprovided by HGNC
Official Full Name
family with sequence similarity 180 member Bprovided by HGNC
Primary source
HGNC:HGNC:34451
See related
Ensembl:ENSG00000196666 AllianceGenome:HGNC:34451
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
Summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in fat (RPKM 2.7), skin (RPKM 1.4) and 9 other tissues See more
Orthologs
mouse all
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Genomic context

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See FAM180B in Genome Data Viewer
Location:
11p11.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47586651..47589194)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47747055..47749590)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47608203..47610746)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene kelch repeat and BTB domain containing 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600081-47600740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600741-47601399 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47602141-47602358 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S3 Neighboring gene MPRA-validated peak1274 silencer Neighboring gene MPRA-validated peak1275 silencer Neighboring gene C1q and TNF related 4 Neighboring gene mitochondrial carrier 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3337

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. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, 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)

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 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein FAM180B
Names
hypothetical gene supported by BC065704

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_001164379.3 → NP_001157851.1  protein FAM180B isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC104942, BC065704
    Consensus CDS
    CCDS91471.1
    UniProtKB/Swiss-Prot
    A0A0B4J243, Q6P0A1
    Related
    ENSP00000443133.2, ENST00000538490.3
    Conserved Domains (1) summary
    pfam15173
    Location:17 → 159
    FAM180; FAM180 family

  2. NM_001367966.1 → NP_001354895.1  protein FAM180B isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC104942

  3. NM_001367967.1 → NP_001354896.1  protein FAM180B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC104942

  4. NM_001367968.1 → NP_001354897.1  protein FAM180B isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC104942

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    47586651..47589194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p14 PATCHES

    Range
    14477..17020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    47747055..47749590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P0A1.3 GenPept UniProtKB/Swiss-Prot:Q6P0A1

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials