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    PABIR2 PABIR family member 2 [ Homo sapiens (human) ]

    Gene ID: 159090, updated on 9-Dec-2024

    Summary

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    Official Symbol
    PABIR2provided by HGNC
    Official Full Name
    PABIR family member 2provided by HGNC
    Primary source
    HGNC:HGNC:30490
    See related
    Ensembl:ENSG00000156504 AllianceGenome:HGNC:30490
    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
    FAM122B; SPACIA2
    Summary
    Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 18.1), lymph node (RPKM 11.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PABIR2 in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (134769566..134797205, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133094679..133122269, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133903596..133931235, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene placenta enriched 1 Neighboring gene ribosomal protein S7 pseudogene 12 Neighboring gene RNA, U4 small nuclear 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:133942169-133943125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21015 Neighboring gene PABIR family member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:133966100-133966314 Neighboring gene Sharpr-MPRA regulatory region 6850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21016 Neighboring gene motile sperm domain containing 1 Neighboring gene RNA, U6 small nuclear 616, pseudogene

    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
    • 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. Overexpression of SPACIA1/SAAL1, a newly identified gene that is involved in synoviocyte proliferation, accelerates the progression of synovitis in mice and humans. Sato T, et al. Arthritis Rheum, 2011 Dec. PMID 22127701
    2. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. Beausoleil SA, et al. Nat Biotechnol, 2006 Oct. PMID 16964243
    5. The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins. Lavie J, et al. Cell Rep, 2023 Jun 27. PMID 37267103

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131814, DKFZp686L20116

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein serine/threonine phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    PABIR family member 2
    Names
    family with sequence similarity 122B
    protein FAM122B
    synoviocyte proliferation associated in collagen-induced arthritis 2

    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_016348.1 RefSeqGene

      Range
      5028..32667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166599.3 → NP_001160071.1  PABIR family member 2 isoform 2

      See identical proteins and their annotated locations for NP_001160071.1

      Status: VALIDATED

      Source sequence(s)
      BC019221, BX538218
      Consensus CDS
      CCDS55497.1
      UniProtKB/Swiss-Prot
      A8K902, Q6PIM2, Q6ZU47, Q6ZV64, Q6ZVE4, Q7Z309, Q8TB75
      Related
      ENSP00000359826.1, ENST00000370790.5

    2. NM_001166600.3 → NP_001160072.1  PABIR family member 2 isoform 3

      See identical proteins and their annotated locations for NP_001160072.1

      Status: VALIDATED

      Source sequence(s)
      AK124650, BX538218
      Consensus CDS
      CCDS55498.1
      UniProtKB/TrEMBL
      G1UD80
      Related
      ENSP00000298090.6, ENST00000298090.10

    3. NM_001170756.1 → NP_001164227.1  PABIR family member 2 isoform 4

      See identical proteins and their annotated locations for NP_001164227.1

      Status: VALIDATED

      Source sequence(s)
      AK125991, BC019221, BX538218
      Consensus CDS
      CCDS55499.1
      UniProtKB/Swiss-Prot
      Q7Z309
      Related
      ENSP00000487221.1, ENST00000493333.5

    4. NM_001170757.2 → NP_001164228.1  PABIR family member 2 isoform 5

      See identical proteins and their annotated locations for NP_001164228.1

      Status: VALIDATED

      Source sequence(s)
      AK124650, AK297720, BX538218
      UniProtKB/TrEMBL
      B4DN12

    5. NM_001331088.1 → NP_001318017.1  PABIR family member 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    6. NM_001331089.1 → NP_001318018.1  PABIR family member 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    7. NM_001331090.1 → NP_001318019.1  PABIR family member 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    8. NM_001331091.1 → NP_001318020.1  PABIR family member 2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    9. NM_001331092.1 → NP_001318021.1  PABIR family member 2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    10. NM_001331093.1 → NP_001318022.1  PABIR family member 2 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    11. NM_001331094.1 → NP_001318023.1  PABIR family member 2 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    12. NM_001387468.1 → NP_001374397.1  PABIR family member 2 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477
      Consensus CDS
      CCDS94668.1
      UniProtKB/TrEMBL
      A0A087WV35, G1UD79
      Related
      ENSP00000339207.6, ENST00000343004.10

    13. NM_001387469.1 → NP_001374398.1  PABIR family member 2 isofrom 14

      Status: VALIDATED

      Source sequence(s)
      AL672032, AL691477

    14. NM_145284.5 → NP_660327.2  PABIR family member 2 isoform 1

      See identical proteins and their annotated locations for NP_660327.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK292517, BC019221, BX538218
      Consensus CDS
      CCDS14643.1
      UniProtKB/Swiss-Prot
      Q7Z309
      Related
      ENSP00000419592.1, ENST00000486347.5

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      134769566..134797205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531290.3 → XP_011529592.1  PABIR family member 2 isoform X8

      See identical proteins and their annotated locations for XP_011529592.1

    2. XM_011531288.3 → XP_011529590.1  PABIR family member 2 isoform X7

      See identical proteins and their annotated locations for XP_011529590.1

    3. XM_047441876.1 → XP_047297832.1  PABIR family member 2 isoform X12

      UniProtKB/TrEMBL
      G1UD80

    4. XM_011531285.3 → XP_011529587.1  PABIR family member 2 isoform X4

      See identical proteins and their annotated locations for XP_011529587.1

    5. XM_011531284.3 → XP_011529586.1  PABIR family member 2 isoform X3

      See identical proteins and their annotated locations for XP_011529586.1

    6. XM_047441873.1 → XP_047297829.1  PABIR family member 2 isoform X6

    7. XM_047441875.1 → XP_047297831.1  PABIR family member 2 isoform X10

    8. XM_011531286.3 → XP_011529588.1  PABIR family member 2 isoform X5

      See identical proteins and their annotated locations for XP_011529588.1

    9. XM_047441874.1 → XP_047297830.1  PABIR family member 2 isoform X9

    10. XM_011531292.3 → XP_011529594.1  PABIR family member 2 isoform X11

      See identical proteins and their annotated locations for XP_011529594.1

    11. XM_011531283.3 → XP_011529585.1  PABIR family member 2 isoform X2

      See identical proteins and their annotated locations for XP_011529585.1

    12. XM_011531282.3 → XP_011529584.1  PABIR family member 2 isoform X1

      See identical proteins and their annotated locations for XP_011529584.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      133094679..133122269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326569.1 → XP_054182544.1  PABIR family member 2 isoform X8

    2. XM_054326568.1 → XP_054182543.1  PABIR family member 2 isoform X7

    3. XM_054326573.1 → XP_054182548.1  PABIR family member 2 isoform X12

      UniProtKB/TrEMBL
      G1UD80

    4. XM_054326565.1 → XP_054182540.1  PABIR family member 2 isoform X4

    5. XM_054326564.1 → XP_054182539.1  PABIR family member 2 isoform X3

    6. XM_054326567.1 → XP_054182542.1  PABIR family member 2 isoform X6

    7. XM_054326571.1 → XP_054182546.1  PABIR family member 2 isoform X10

    8. XM_054326566.1 → XP_054182541.1  PABIR family member 2 isoform X5

    9. XM_054326570.1 → XP_054182545.1  PABIR family member 2 isoform X9

    10. XM_054326572.1 → XP_054182547.1  PABIR family member 2 isoform X11

    11. XM_054326563.1 → XP_054182538.1  PABIR family member 2 isoform X2

    12. XM_054326562.1 → XP_054182537.1  PABIR family member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z309.2 GenPept UniProtKB/Swiss-Prot:Q7Z309

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