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    ARB2A ARB2 cotranscriptional regulator A [ Homo sapiens (human) ]

    Gene ID: 83989, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARB2Aprovided by HGNC
    Official Full Name
    ARB2 cotranscriptional regulator Aprovided by HGNC
    Primary source
    HGNC:HGNC:25365
    See related
    Ensembl:ENSG00000113391 AllianceGenome:HGNC:25365
    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
    Toupee; C5orf21; FAM172A
    Summary
    Predicted to contribute to siRNA binding activity. Predicted to be involved in neural crest cell development; regulation of alternative mRNA splicing, via spliceosome; and regulatory ncRNA-mediated heterochromatin formation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.6), brain (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARB2A in Genome Data Viewer
    Location:
    5q15
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (93617725..94111699, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (94101790..94595756, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (92953431..93447404, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NR2F1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92931735-92932535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92932536-92933335 Neighboring gene uncharacterized LOC124901027 Neighboring gene NANOG hESC enhancer GRCh37_chr5:92935096-92935597 Neighboring gene Sharpr-MPRA regulatory region 13970 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:92953840-92954648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16179 Neighboring gene uncharacterized LOC124901028 Neighboring gene nuclear receptor subfamily 2 group F member 1 Neighboring gene microRNA 2277 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:93091910-93092657 Neighboring gene nucleophosmin 1 pseudogene 27 Neighboring gene POU domain class 5, transcription factor 2 Neighboring gene VISTA enhancer hs271 Neighboring gene MPRA-validated peak5355 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93361212-93361712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22789 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:93393287-93393833 Neighboring gene uncharacterized LOC105379087 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:93520520-93521028 Neighboring gene KIAA0825 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:93690795-93691426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93692061-93692692 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:93697863-93698503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:93800512-93801711 Neighboring gene MT-ND5 pseudogene 12 Neighboring gene MT-CYB pseudogene 35 Neighboring gene MT-ND6 pseudogene 3

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.
      Title: The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import.
    2. FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC.
      Title: FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC.
    3. FAM172A inhibits EMT in pancreatic cancer via ERK-MAPK signaling.
      Title: FAM172A inhibits EMT in pancreatic cancer via ERK-MAPK signaling.
    4. FAM172A recombinant protein could induce proliferation of HepG2 cells, in which the MAPK/ERK and PI3K/Akt signaling pathways might be involved. The role of FAM172A in HepG2 cell proliferation also indicated its possible involvement in hepatocellular carcinoma.
      Title: The Effect of Protein FAM172A on Proliferation in HepG2 Cells and Investigation of the Possible Molecular Mechanism.
    5. our study showed that miR27a expression is a diagnostic and prognostic marker and correlates with overall survival of patients with CRC. Therefore, it may be a therapeutic approach for preventing metastasis of CRC to inhibit expression of miR27a or increase expression of FAM172A.
      Title: miR‑27a promotes proliferation, migration, and invasion of colorectal cancer by targeting FAM172A and acts as a diagnostic and prognostic biomarker.
    6. Mesenchymal circulating tumor cells and FAM172A detection may predict highrisk stage II colorectal cancer. Our research proved that circulating tumor cells were feasible surrogate samples to detect gene expression and could serve as a predictive biomarker for tumor evaluation
      Title: Detection of FAM172A expressed in circulating tumor cells is a feasible method to predict high-risk subgroups of colorectal cancer.
    7. FAM172A might play a role in the carcinogenesis of CRC by inhibiting the growth and invasion of CRC cells. The mechanisms by which FAM172A exerts its function seem to involve activation of ERS signaling.
      Title: FAM172A is a tumor suppressor in colorectal carcinoma.
    8. FAM172A protein is expressed at high levels in human papillary thyroid carcinoma, which may promote cell proliferation via activation of the p38 MAPK signaling pathway.
      Title: FAM172A protein promotes the proliferation of human papillary thyroid carcinoma cells via the p38 mitogen-activated protein kinase pathway.
    9. FAM172A protein promotes cell proliferation, inhibits cell apoptosis and facilitates S-phase entry in HEK293 cells.
      Title: [Effect of FAM172A protein on apoptosis and proliferation in HEK293 cells].
    10. FAM172 protein expression in human aortic smooth muscle cells was up-regulated by high glucose levels in a concentration-dependent and time-course manner.
      Title: Identification of the novel protein FAM172A, and its up-regulation by high glucose in human aortic smooth muscle cells.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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 Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of family with sequence similarity 172, member A (C5orf21; FAM172A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564D172

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to siRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural crest cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulatory ncRNA-mediated heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cotranscriptional regulator ARB2A
    Names
    cotranscriptional regulator FAM172A
    family with sequence similarity 172 member A
    protein FAM172A

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001163417.1 → NP_001156889.1  cotranscriptional regulator ARB2A isoform 2

      See identical proteins and their annotated locations for NP_001156889.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK296986, BC012007, BC020584, BP398089, DC324758, W15296
      Consensus CDS
      CCDS54880.1
      UniProtKB/Swiss-Prot
      Q8WUF8
      Related
      ENSP00000423841.1, ENST00000509163.5
      Conserved Domains (1) summary
      pfam09757
      Location:103 → 271
      Arb2; Arb2 domain

    2. NM_001163418.1 → NP_001156890.1  cotranscriptional regulator ARB2A isoform 3

      See identical proteins and their annotated locations for NP_001156890.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK295879, BC012007, BC020584, BP398089, DC324758, W15296
      Consensus CDS
      CCDS54879.1
      UniProtKB/Swiss-Prot
      Q8WUF8
      Related
      ENSP00000426284.1, ENST00000505869.5
      Conserved Domains (1) summary
      pfam09757
      Location:32 → 119
      Arb2; Arb2 domain

    3. NM_032042.6 → NP_114431.2  cotranscriptional regulator ARB2A isoform 1 precursor

      See identical proteins and their annotated locations for NP_114431.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK312930, BC012007, BC020584, BP398089, DC324758, W15296
      Consensus CDS
      CCDS4069.1
      UniProtKB/Swiss-Prot
      B2R7C6, B4DJ14, B4DLG5, Q8WUF8, Q9H0U8
      Related
      ENSP00000379294.3, ENST00000395965.8
      Conserved Domains (1) summary
      pfam09757
      Location:101 → 317
      Arb2; Arb2 domain

    RNA

    1. NR_028080.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK297471, BC012007, BC020584, BP398089, DC324758, DC374283, W15296

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      93617725..94111699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272110.4 → XP_005272167.1  cotranscriptional regulator ARB2A isoform X17

      Conserved Domains (2) summary
      COG0596
      Location:101 → 219
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam09757
      Location:149 → 198
      Arb2; Arb2 domain

    2. XM_047417820.1 → XP_047273776.1  cotranscriptional regulator ARB2A isoform X20

      UniProtKB/TrEMBL
      B4DMI0
      Related
      ENSP00000421834.1, ENST00000509739.5

    3. XM_047417814.1 → XP_047273770.1  cotranscriptional regulator ARB2A isoform X13

    4. XM_047417810.1 → XP_047273766.1  cotranscriptional regulator ARB2A isoform X8

    5. XM_047417818.1 → XP_047273774.1  cotranscriptional regulator ARB2A isoform X16

    6. XM_017009953.2 → XP_016865442.1  cotranscriptional regulator ARB2A isoform X2

      Conserved Domains (1) summary
      pfam09757
      Location:127 → 295
      Arb2; Arb2 domain

    7. XM_005272105.5 → XP_005272162.1  cotranscriptional regulator ARB2A isoform X9

      Conserved Domains (1) summary
      pfam09757
      Location:204 → 253
      Arb2; Arb2 domain

    8. XM_005272106.5 → XP_005272163.1  cotranscriptional regulator ARB2A isoform X10

      Conserved Domains (2) summary
      COG0596
      Location:147 → 265
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam09757
      Location:195 → 244
      Arb2; Arb2 domain

    9. XM_006714717.4 → XP_006714780.1  cotranscriptional regulator ARB2A isoform X1

      See identical proteins and their annotated locations for XP_006714780.1

      UniProtKB/Swiss-Prot
      B2R7C6, B4DJ14, B4DLG5, Q8WUF8, Q9H0U8
      Conserved Domains (1) summary
      pfam09757
      Location:101 → 317
      Arb2; Arb2 domain

    10. XM_047417817.1 → XP_047273773.1  cotranscriptional regulator ARB2A isoform X10

    11. XM_017009958.2 → XP_016865447.1  cotranscriptional regulator ARB2A isoform X13

      UniProtKB/TrEMBL
      E9PBM2
      Conserved Domains (1) summary
      pfam09757
      Location:66 → 234
      Arb2; Arb2 domain

    12. XM_047417815.1 → XP_047273771.1  cotranscriptional regulator ARB2A isoform X13

    13. XM_017009957.2 → XP_016865446.1  cotranscriptional regulator ARB2A isoform X13

      UniProtKB/TrEMBL
      E9PBM2
      Conserved Domains (1) summary
      pfam09757
      Location:66 → 234
      Arb2; Arb2 domain

    14. XM_006714718.4 → XP_006714781.1  cotranscriptional regulator ARB2A isoform X13

      See identical proteins and their annotated locations for XP_006714781.1

      UniProtKB/TrEMBL
      E9PBM2
      Conserved Domains (1) summary
      pfam09757
      Location:66 → 234
      Arb2; Arb2 domain

    15. XM_017009955.2 → XP_016865444.1  cotranscriptional regulator ARB2A isoform X8

      UniProtKB/Swiss-Prot
      Q8WUF8
      Conserved Domains (1) summary
      pfam09757
      Location:103 → 271
      Arb2; Arb2 domain

    16. XM_011543671.4 → XP_011541973.1  cotranscriptional regulator ARB2A isoform X7

      Conserved Domains (1) summary
      pfam09757
      Location:149 → 317
      Arb2; Arb2 domain

    17. XM_047417811.1 → XP_047273767.1  cotranscriptional regulator ARB2A isoform X7

    18. XM_047417812.1 → XP_047273768.1  cotranscriptional regulator ARB2A isoform X11

    19. XM_005272103.5 → XP_005272160.1  cotranscriptional regulator ARB2A isoform X4

      Conserved Domains (1) summary
      pfam09757
      Location:149 → 317
      Arb2; Arb2 domain

    20. XM_017009954.3 → XP_016865443.1  cotranscriptional regulator ARB2A isoform X3

      Conserved Domains (1) summary
      pfam09757
      Location:149 → 317
      Arb2; Arb2 domain

    21. XM_047417813.1 → XP_047273769.1  cotranscriptional regulator ARB2A isoform X12

    22. XM_011543668.4 → XP_011541970.1  cotranscriptional regulator ARB2A isoform X5

      Conserved Domains (1) summary
      pfam09757
      Location:149 → 317
      Arb2; Arb2 domain

    23. XM_047417816.1 → XP_047273772.1  cotranscriptional regulator ARB2A isoform X14

      Related
      ENSP00000424097.1, ENST00000502503.1

    24. XM_011543670.4 → XP_011541972.1  cotranscriptional regulator ARB2A isoform X6

      Conserved Domains (1) summary
      pfam09757
      Location:149 → 317
      Arb2; Arb2 domain

    25. XM_047417819.1 → XP_047273775.1  cotranscriptional regulator ARB2A isoform X18

    26. XM_017009961.3 → XP_016865450.1  cotranscriptional regulator ARB2A isoform X21

    27. XM_005272109.6 → XP_005272166.1  cotranscriptional regulator ARB2A isoform X15

      See identical proteins and their annotated locations for XP_005272166.1

    28. XM_017009962.2 → XP_016865451.1  cotranscriptional regulator ARB2A isoform X22

    29. XM_005272111.6 → XP_005272168.1  cotranscriptional regulator ARB2A isoform X19

    30. XM_047417822.1 → XP_047273778.1  cotranscriptional regulator ARB2A isoform X19

    RNA

    1. XR_007058646.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      94101790..94595756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353660.1 → XP_054209635.1  cotranscriptional regulator ARB2A isoform X17

    2. XM_054353663.1 → XP_054209638.1  cotranscriptional regulator ARB2A isoform X20

      UniProtKB/TrEMBL
      B4DMI0

    3. XM_054353651.1 → XP_054209626.1  cotranscriptional regulator ARB2A isoform X13

    4. XM_054353644.1 → XP_054209619.1  cotranscriptional regulator ARB2A isoform X8

    5. XM_054353659.1 → XP_054209634.1  cotranscriptional regulator ARB2A isoform X16

    6. XM_054353638.1 → XP_054209613.1  cotranscriptional regulator ARB2A isoform X2

    7. XM_054353647.1 → XP_054209622.1  cotranscriptional regulator ARB2A isoform X9

    8. XM_054353648.1 → XP_054209623.1  cotranscriptional regulator ARB2A isoform X10

    9. XM_054353637.1 → XP_054209612.1  cotranscriptional regulator ARB2A isoform X1

      UniProtKB/Swiss-Prot
      B2R7C6, B4DJ14, B4DLG5, Q8WUF8, Q9H0U8

    10. XM_054353657.1 → XP_054209632.1  cotranscriptional regulator ARB2A isoform X10

    11. XM_054353655.1 → XP_054209630.1  cotranscriptional regulator ARB2A isoform X13

    12. XM_054353652.1 → XP_054209627.1  cotranscriptional regulator ARB2A isoform X13

    13. XM_054353653.1 → XP_054209628.1  cotranscriptional regulator ARB2A isoform X13

    14. XM_054353654.1 → XP_054209629.1  cotranscriptional regulator ARB2A isoform X13

    15. XM_054353645.1 → XP_054209620.1  cotranscriptional regulator ARB2A isoform X8

    16. XM_054353643.1 → XP_054209618.1  cotranscriptional regulator ARB2A isoform X7

    17. XM_054353646.1 → XP_054209621.1  cotranscriptional regulator ARB2A isoform X7

    18. XM_054353649.1 → XP_054209624.1  cotranscriptional regulator ARB2A isoform X11

    19. XM_054353640.1 → XP_054209615.1  cotranscriptional regulator ARB2A isoform X4

    20. XM_054353639.1 → XP_054209614.1  cotranscriptional regulator ARB2A isoform X3

    21. XM_054353650.1 → XP_054209625.1  cotranscriptional regulator ARB2A isoform X12

    22. XM_054353641.1 → XP_054209616.1  cotranscriptional regulator ARB2A isoform X5

    23. XM_054353656.1 → XP_054209631.1  cotranscriptional regulator ARB2A isoform X14

    24. XM_054353642.1 → XP_054209617.1  cotranscriptional regulator ARB2A isoform X6

    25. XM_054353665.1 → XP_054209640.1  cotranscriptional regulator ARB2A isoform X21

    26. XM_054353661.1 → XP_054209636.1  cotranscriptional regulator ARB2A isoform X18

    27. XM_054353658.1 → XP_054209633.1  cotranscriptional regulator ARB2A isoform X15

    28. XM_054353666.1 → XP_054209641.1  cotranscriptional regulator ARB2A isoform X22

    29. XM_054353662.1 → XP_054209637.1  cotranscriptional regulator ARB2A isoform X19

    30. XM_054353664.1 → XP_054209639.1  cotranscriptional regulator ARB2A isoform X19

    RNA

    1. XR_008487183.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUF8.1 GenPept UniProtKB/Swiss-Prot:Q8WUF8

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