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

Gene ID: 55633, updated on 10-Oct-2019

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 6.2) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D22B in Genome Data Viewer
Location:
6p21.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (37257772..37332970)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37225528..37300746)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 2 Neighboring gene Pim-1 proto-oncogene, serine/threonine kinase Neighboring gene transmembrane protein 217 Neighboring gene Sharpr-MPRA regulatory region 3623 Neighboring gene uncharacterized LOC105375040 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene ring finger protein 8

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20337, MGC125626, MGC125627, DKFZp762J0110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
TBC1 domain family member 22B

NCBI Reference Sequences (RefSeq)

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_017772.4NP_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
    Q9NU19
    Related
    ENSP00000362590.3, ENST00000373491.3
    Conserved Domains (1) summary
    smart00164
    Location:207457
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011514738.3XP_011513040.1  TBC1 domain family member 22B isoform X1

    Conserved Domains (1) summary
    smart00164
    Location:207457
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_011514739.2XP_011513041.1  TBC1 domain family member 22B isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:207388
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. XR_427833.2 RNA Sequence

  2. XR_241906.2 RNA Sequence

  3. XR_926270.3 RNA Sequence

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