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TBC1D22A TBC1 domain family member 22A [ Homo sapiens (human) ]

Gene ID: 25771, updated on 2-Nov-2024

Summary

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Official Symbol
TBC1D22Aprovided by HGNC
Official Full Name
TBC1 domain family member 22Aprovided by HGNC
Primary source
HGNC:HGNC:1309
See related
Ensembl:ENSG00000054611 MIM:616879; AllianceGenome:HGNC:1309
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
C22orf4; HSC79E021
Summary
Enables 14-3-3 protein binding activity and protein homodimerization activity. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in spleen (RPKM 2.7), lymph node (RPKM 2.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See TBC1D22A in Genome Data Viewer
Location:
22q13.31
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (46762650..47175699)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (47250621..47665617)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (47158547..47571342)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47131961-47132534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47134630-47135288 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:47150047-47150223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:47157594-47158428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47164922-47165802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47165803-47166681 Neighboring gene ceramide kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47169536-47170051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19258 Neighboring gene TBC1D22A divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47169021-47169535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19259 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:47179260-47179426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47194214-47194714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47210780-47211732 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:47223143-47223301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47298559-47299204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47304205-47305098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47305099-47305992 Neighboring gene TBC1D22A antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:47310467-47310968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:47310969-47311468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19266 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47330185-47331384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47331751-47332316 Neighboring gene uncharacterized LOC105369161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47345253-47345850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47345851-47346446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47361678-47362356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47378875-47379375 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47389156-47389984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47395371-47395872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47395873-47396372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47411357-47411986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47411987-47412614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47424077-47424843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47426380-47426908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47426909-47427436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47427933-47428524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47441137-47441652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47442170-47442685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47447799-47448784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47448785-47449768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47451683-47452225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19268 Neighboring gene uncharacterized LOC124905141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47462501-47463001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47485844-47486817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47510887-47511388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47511389-47511888 Neighboring gene uncharacterized protein UNQ6126/PRO20091 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47519502-47520188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47521565-47522252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47522253-47522938 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47525234-47526433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:47526945-47527808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47532865-47533804 Neighboring gene uncharacterized LOC124905140 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:47550202-47551401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47560499-47561076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47566897-47567396 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:47571494-47572693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47588168-47588668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47608371-47608872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47643595-47644094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47677397-47677897 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47724406-47725605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19269 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47765496-47766695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47771462-47771962 Neighboring gene uncharacterized LOC339685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:47803821-47804321 Neighboring gene Sharpr-MPRA regulatory region 13395 Neighboring gene long intergenic non-protein coding RNA 1644

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. Genome-wide linkage and regional association study of obesity-related phenotypes: the GenSalt study. Liu AY, et al. Obesity (Silver Spring), 2014 Feb. PMID 23526746, Free PMC Article
  2. First crystallographic models of human TBC domains in the context of a family-wide structural analysis. Tempel W, et al. Proteins, 2008 Apr. PMID 18186464
  3. 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
  4. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. Collins JE, et al. Genome Res, 2003 Jan. PMID 12529303, Free PMC Article
  5. Joint influence of small-effect genetic variants on human longevity. Yashin AI, et al. Aging (Albany NY), 2010 Sep. PMID 20834067, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. genetic association studies in population in Han Chinese: Data suggest that SNPs in TBC1D22A (rs7755450 and rs11758293) are associated with body mass index in obese females; other SNPs in TBC1D22A are associated with body mass index in obese males.
    Title: Genome-wide linkage and regional association study of obesity-related phenotypes: the GenSalt study.
  2. 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.
  3. 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.
  4. crystal structures of the first two mammalian TBCs, human TBC1 family members 22A (TBC1D22A) and 14 (TBC1D14)
    Title: First crystallographic models of human TBC domains in the context of a family-wide structural analysis.
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
Joint influence of small-effect genetic variants on human longevity.
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

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 
enables protein homodimerization activity IDA
Inferred from Direct Assay
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 22A
Names
putative GTPase activator

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_001284303.2 → NP_001271232.1  TBC1 domain family member 22A isoform b

    See identical proteins and their annotated locations for NP_001271232.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
    Consensus CDS
    CCDS63511.1
    UniProtKB/TrEMBL
    B3KP29
    Related
    ENSP00000347932.3, ENST00000355704.7
    Conserved Domains (1) summary
    smart00164
    Location:141 → 391
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. NM_001284304.2 → NP_001271233.1  TBC1 domain family member 22A isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
    Consensus CDS
    CCDS74877.1
    UniProtKB/TrEMBL
    A0A0A0MRY0, B2RE30, B3KP29
    Related
    ENSP00000370383.2, ENST00000380995.5
    Conserved Domains (1) summary
    smart00164
    Location:189 → 439
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. NM_001284305.2 → NP_001271234.1  TBC1 domain family member 22A isoform d

    See identical proteins and their annotated locations for NP_001271234.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
    Consensus CDS
    CCDS63512.1
    UniProtKB/TrEMBL
    B2RE30, B3KP29
    Related
    ENSP00000385634.1, ENST00000406733.1
    Conserved Domains (1) summary
    smart00164
    Location:172 → 422
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  4. NM_001410803.1 → NP_001397732.1  TBC1 domain family member 22A isoform e

    Status: VALIDATED

    Source sequence(s)
    AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
    Consensus CDS
    CCDS93180.1
    UniProtKB/TrEMBL
    B0QYI1
    Related
    ENSP00000384036.3, ENST00000407381.7

  5. NM_014346.5 → NP_055161.1  TBC1 domain family member 22A isoform a

    See identical proteins and their annotated locations for NP_055161.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
    Consensus CDS
    CCDS14078.1
    UniProtKB/Swiss-Prot
    B0QYI2, B0QYI3, B9A6M3, Q5TE47, Q6ZUH2, Q8WUA7, Q92680, Q9BVD6, Q9UGG0, Q9UGT2, Q9UGU6, Q9UH25, Q9Y4W5
    UniProtKB/TrEMBL
    B2RE30, B3KP29
    Related
    ENSP00000336724.4, ENST00000337137.9
    Conserved Domains (1) summary
    smart00164
    Location:219 → 469
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_104292.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK125705, AL118516, DB339610, FP325331

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    46762650..47175699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028742.3 → XP_016884231.1  TBC1 domain family member 22A isoform X2

    UniProtKB/TrEMBL
    B2RE30, B3KP29
    Conserved Domains (1) summary
    pfam00566
    Location:279 → 501
    RabGAP-TBC; Rab-GTPase-TBC domain

  2. XM_047441306.1 → XP_047297262.1  TBC1 domain family member 22A isoform X1

  3. XM_017028743.3 → XP_016884232.1  TBC1 domain family member 22A isoform X3

    UniProtKB/TrEMBL
    B2RE30, B3KP29

  4. XM_011530100.4 → XP_011528402.1  TBC1 domain family member 22A isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:219 → 400
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  5. XM_047441307.1 → XP_047297263.1  TBC1 domain family member 22A isoform X4

  6. XM_011530102.4 → XP_011528404.1  TBC1 domain family member 22A isoform X9

    Conserved Domains (1) summary
    smart00164
    Location:219 → 333
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  7. XM_047441308.1 → XP_047297264.1  TBC1 domain family member 22A isoform X9

  8. XM_047441309.1 → XP_047297265.1  TBC1 domain family member 22A isoform X10

  9. XM_017028746.3 → XP_016884235.1  TBC1 domain family member 22A isoform X6

  10. XM_011530101.4 → XP_011528403.1  TBC1 domain family member 22A isoform X7

    Conserved Domains (1) summary
    smart00164
    Location:219 → 372
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  11. XM_017028747.3 → XP_016884236.1  TBC1 domain family member 22A isoform X8

RNA

  1. XR_007067971.1 RNA Sequence

  2. XR_007067970.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    47250621..47665617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325466.1 → XP_054181441.1  TBC1 domain family member 22A isoform X2

  2. XM_054325465.1 → XP_054181440.1  TBC1 domain family member 22A isoform X1

  3. XM_054325467.1 → XP_054181442.1  TBC1 domain family member 22A isoform X3

  4. XM_054325469.1 → XP_054181444.1  TBC1 domain family member 22A isoform X5

  5. XM_054325468.1 → XP_054181443.1  TBC1 domain family member 22A isoform X4

  6. XM_054325475.1 → XP_054181450.1  TBC1 domain family member 22A isoform X9

  7. XM_054325474.1 → XP_054181449.1  TBC1 domain family member 22A isoform X9

  8. XM_054325476.1 → XP_054181451.1  TBC1 domain family member 22A isoform X10

  9. XM_054325470.1 → XP_054181445.1  TBC1 domain family member 22A isoform X6

  10. XM_054325471.1 → XP_054181446.1  TBC1 domain family member 22A isoform X7

  11. XM_054325473.1 → XP_054181448.1  TBC1 domain family member 22A isoform X8

  12. XM_054325472.1 → XP_054181447.1  TBC1 domain family member 22A isoform X11

RNA

  1. XR_008485383.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WUA7.2 GenPept UniProtKB/Swiss-Prot:Q8WUA7

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