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FAM124B family with sequence similarity 124 member B [ Homo sapiens (human) ]

Gene ID: 79843, updated on 23-Nov-2021

Summary

Official Symbol
FAM124Bprovided by HGNC
Official Full Name
family with sequence similarity 124 member Bprovided by HGNC
Primary source
HGNC:HGNC:26224
See related
Ensembl:ENSG00000124019 MIM:618403
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
Expression
Broad expression in placenta (RPKM 4.1), fat (RPKM 1.7) and 21 other tissues See more
Orthologs
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Genomic context

See FAM124B in Genome Data Viewer
Location:
2q36.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (224378698..224402107, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (225243415..225266824, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 15583 Neighboring gene cullin 3 Neighboring gene ANKRD49 pseudogene 1 Neighboring gene uncharacterized LOC105373909

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ22746

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 mitochondrion IDA
Inferred from Direct Assay
more info
 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein FAM124B
Names
family with sequence similarity 124B

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_001122779.2NP_001116251.1  protein FAM124B isoform a

    See identical proteins and their annotated locations for NP_001116251.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC008072, AK026399, BC025754
    Consensus CDS
    CCDS46527.1
    UniProtKB/Swiss-Prot
    Q9H5Z6
    Related
    ENSP00000386895.3, ENST00000409685.4
    Conserved Domains (1) summary
    pfam15067
    Location:10244
    FAM124; FAM124 family
  2. NM_024785.3NP_079061.2  protein FAM124B isoform b

    See identical proteins and their annotated locations for NP_079061.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate coding exon compared to variant 1. This alternate exon has an in-frame stop codon, so variant 2 encodes an isoform (b) that is shorter and that has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC008072, BC025754
    Consensus CDS
    CCDS2461.1
    UniProtKB/Swiss-Prot
    Q9H5Z6
    Related
    ENSP00000374524.3, ENST00000389874.3
    Conserved Domains (1) summary
    pfam15067
    Location:10244
    FAM124; FAM124 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    224378698..224402107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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