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

Gene ID: 159090, updated on 10-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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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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