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FAM50B family with sequence similarity 50 member B [ Homo sapiens (human) ]

Gene ID: 26240, updated on 6-Sep-2022

Summary

Official Symbol
FAM50Bprovided by HGNC
Official Full Name
family with sequence similarity 50 member Bprovided by HGNC
Primary source
HGNC:HGNC:18789
See related
Ensembl:ENSG00000145945 MIM:614686; AllianceGenome:HGNC:18789
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
X5L; D6S2654E
Summary
This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in kidney (RPKM 6.3), testis (RPKM 5.1) and 25 other tissues See more
Orthologs
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Genomic context

See FAM50B in Genome Data Viewer
Location:
6p25.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3831894..3851317)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3719010..3720954)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3849607..3851551)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8997 Neighboring gene uncharacterized LOC124901244 Neighboring gene uncharacterized LOC107986557 Neighboring gene uncharacterized LOC107986558 Neighboring gene ribosomal protein S25 pseudogene 7

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 chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in chromatin organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
 
located_in midbody IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein FAM50B
Names
XAP5 like
XAP5-like protein

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.

Genomic

  1. NG_045226.1 RefSeqGene

    Range
    5008..6952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1062

mRNA and Protein(s)

  1. NM_012135.3NP_036267.1  protein FAM50B

    See identical proteins and their annotated locations for NP_036267.1

    Status: REVIEWED

    Source sequence(s)
    BC001261, BI488606, DB566944
    Consensus CDS
    CCDS4487.1
    UniProtKB/Swiss-Prot
    Q5T2L6, Q9Y247
    UniProtKB/TrEMBL
    A0A024QZY3
    Related
    ENSP00000496837.1, ENST00000648326.1
    Conserved Domains (1) summary
    pfam04921
    Location:141324
    XAP5; XAP5, circadian clock regulator

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    3831894..3851317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010729.2XP_016866218.1  protein FAM50B isoform X1

    UniProtKB/Swiss-Prot
    Q5T2L6, Q9Y247
    UniProtKB/TrEMBL
    A0A024QZY3
    Conserved Domains (1) summary
    pfam04921
    Location:141324
    XAP5; XAP5, circadian clock regulator

RNA

  1. XR_001743335.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    3719010..3720954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)