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FAM180A family with sequence similarity 180 member A [ Homo sapiens (human) ]

Gene ID: 389558, updated on 26-Oct-2022

Summary

Official Symbol
FAM180Aprovided by HGNC
Official Full Name
family with sequence similarity 180 member Aprovided by HGNC
Primary source
HGNC:HGNC:33773
See related
Ensembl:ENSG00000189320 AllianceGenome:HGNC:33773
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
UNQ1940
Summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in gall bladder (RPKM 8.6), heart (RPKM 4.7) and 13 other tissues See more
Orthologs
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Genomic context

See FAM180A in Genome Data Viewer
Location:
7q33
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (135729592..135748813, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (137036901..137056105, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (135414340..135433561, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1154, pseudogene Neighboring gene uncharacterized LOC105375521 Neighboring gene short transmembrane mitochondrial protein 1 Neighboring gene solute carrier family 13 member 4 Neighboring gene Sharpr-MPRA regulatory region 13285 Neighboring gene uncharacterized LOC105375522 Neighboring gene myotrophin Neighboring gene RNA, U6 small nuclear 223, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
protein FAM180A
Names
HWKM1940

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_001369697.2NP_001356626.1  protein FAM180A precursor

    Status: VALIDATED

    Source sequence(s)
    AC091736, AL597791
    Consensus CDS
    CCDS5841.1
    UniProtKB/Swiss-Prot
    B2RP85
    Related
    ENSP00000395467.1, ENST00000415751.1
  2. NM_205855.4NP_995327.1  protein FAM180A precursor

    See identical proteins and their annotated locations for NP_995327.1

    Status: VALIDATED

    Source sequence(s)
    AC091736, AL597791, BC137311, BI040280, BU617005
    Consensus CDS
    CCDS5841.1
    UniProtKB/Swiss-Prot
    B2RP85, Q6UWF9
    Related
    ENSP00000342336.3, ENST00000338588.8
    Conserved Domains (1) summary
    pfam15173
    Location:28163
    FAM180; FAM180 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    135729592..135748813 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    137036901..137056105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)