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TBC1D22B TBC1 domain family member 22B [ Homo sapiens (human) ]

Gene ID: 55633, updated on 2-Nov-2024

Summary

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Official Symbol
TBC1D22Bprovided by HGNC
Official Full Name
TBC1 domain family member 22Bprovided by HGNC
Primary source
HGNC:HGNC:21602
See related
Ensembl:ENSG00000065491 MIM:616880; AllianceGenome:HGNC:21602
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
C6orf197
Summary
Enables 14-3-3 protein binding activity. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 6.2) and 25 other tissues See more
Orthologs
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Genomic context

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See TBC1D22B in Genome Data Viewer
Location:
6p21.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (37257772..37332970)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37081380..37156524)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37225548..37300746)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37137173-37137771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17131 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:37139693-37140286 Neighboring gene CRISPR perturbation-validated PIM1 cis-regulatory element TAD2.SE2.HS2 Neighboring gene Pim-1 proto-oncogene, serine/threonine kinase Neighboring gene Sharpr-MPRA regulatory region 1580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17134 Neighboring gene transmembrane protein 217B Neighboring gene transmembrane protein 217 Neighboring gene Sharpr-MPRA regulatory region 10381 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24455 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37225915-37226550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37232157-37232657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17138 Neighboring gene Sharpr-MPRA regulatory region 3623 Neighboring gene uncharacterized LOC105375040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24457 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene ring finger protein 8

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. Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays. Kapranov P, et al. Genome Res, 2005 Jul. PMID 15998911, Free PMC Article
  2. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. Greninger AL, et al. mBio, 2013 Apr 9. PMID 23572552, Free PMC Article
  3. Network-based prediction of protein interactions. Kovács IA, et al. Nat Commun, 2019 Mar 18. PMID 30886144, Free PMC Article
  4. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. Ishibashi K, et al. Genes Cells, 2009 Jan. PMID 19077034
  5. Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution. Cheng J, et al. Science, 2005 May 20. PMID 15790807

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Using affinity purification-mass spectrometry, we identified the putative Rab33 GTPase-activating proteins TBC1D22A and TBC1D22B as ACBD3-interacting factors.
    Title: ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

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

Clone Names

  • FLJ20337, MGC125626, MGC125627, DKFZp762J0110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 14-3-3 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
TBC1 domain family member 22B

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_017772.4 → NP_060242.2  TBC1 domain family member 22B

    See identical proteins and their annotated locations for NP_060242.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
    Source sequence(s)
    AY313781, BC001927, CN423653
    Consensus CDS
    CCDS4832.1
    UniProtKB/Swiss-Prot
    A8KA28, Q32MQ8, Q5VUK9, Q6P4C3, Q7Z6P7, Q9BPV6, Q9BUT5, Q9NU19, Q9NXB6
    Related
    ENSP00000362590.3, ENST00000373491.3
    Conserved Domains (1) summary
    smart00164
    Location:207 → 457
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_130108.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AY313781, BC001927, BC047658, CN423653

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    37257772..37332970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514738.4 → XP_011513040.1  TBC1 domain family member 22B isoform X1

    Conserved Domains (1) summary
    smart00164
    Location:207 → 457
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. XM_011514739.3 → XP_011513041.1  TBC1 domain family member 22B isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:207 → 388
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. XM_047419000.1 → XP_047274956.1  TBC1 domain family member 22B isoform X3

  4. XM_047419001.1 → XP_047274957.1  TBC1 domain family member 22B isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    37081380..37156524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355835.1 → XP_054211810.1  TBC1 domain family member 22B isoform X1

  2. XM_054355836.1 → XP_054211811.1  TBC1 domain family member 22B isoform X2

  3. XM_054355837.1 → XP_054211812.1  TBC1 domain family member 22B isoform X3

  4. XM_054355838.1 → XP_054211813.1  TBC1 domain family member 22B isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NU19.3 GenPept UniProtKB/Swiss-Prot:Q9NU19

Gene LinkOut

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

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