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

Gene ID: 79843, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:26224
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
Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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

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Location:
2q36.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (224378698..224402107, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (224861847..224885253, complement)
105.20220307 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 uncharacterized LOC124907992 Neighboring gene Sharpr-MPRA regulatory region 15583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:225297524-225298143 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:225298144-225298762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12380 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:225349417-225350616 Neighboring gene cullin 3 Neighboring gene ANKRD49 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12383 Neighboring gene uncharacterized LOC105373909

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
  • 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. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. Batsukh T, et al. PLoS One, 2012. PMID 23285124, Free PMC Article
  2. FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. Fung E, et al. EMBO Rep, 2018 Mar. PMID 29348145, Free PMC Article
  3. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967, Free PMC Article
  4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
  5. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Fam124B is a novel protein possibly involved in the pathogenesis of CHARGE syndrome and neurodevelopmental disorders.
    Title: Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.
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

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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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
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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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_001122779.2 → NP_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
    A6NNC7, Q8NBZ4, Q8TAV7, Q9H5Z6
    Related
    ENSP00000386895.3, ENST00000409685.4
    Conserved Domains (1) summary
    pfam15067
    Location:10 → 244
    FAM124; FAM124 family

  2. NM_024785.3 → NP_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:10 → 244
    FAM124; FAM124 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047445888.1 → XP_047301844.1  protein FAM124B isoform X1

    Related
    ENSP00000243806.2, ENST00000243806.2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    224861847..224885253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343994.1 → XP_054199969.1  protein FAM124B isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H5Z6.3 GenPept UniProtKB/Swiss-Prot:Q9H5Z6

Gene LinkOut

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

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