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    SHLD2 shieldin complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 54537, updated on 10-Dec-2024

    Summary

    Official Symbol
    SHLD2provided by HGNC
    Official Full Name
    shieldin complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:28773
    See related
    Ensembl:ENSG00000122376 MIM:618029; AllianceGenome:HGNC:28773
    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
    RINN2; FAM35A; FAM35A1; bA163M19.1
    Summary
    Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in actin cytoskeleton; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 20.9), thyroid (RPKM 14.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SHLD2 in Genome Data Viewer
    Location:
    10q23.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87094473..87191465)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (87978839..88075088)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88854963..88951222)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88779570-88780070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88780071-88780571 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:88784270-88785122 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:88785123-88785973 Neighboring gene family with sequence similarity 25 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3703 Neighboring gene RNA, U6 small nuclear 529, pseudogene Neighboring gene glutamate dehydrogenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3704 Neighboring gene NANOG hESC enhancer GRCh37_chr10:88852612-88853149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2576 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:88855254-88855511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3705 Neighboring gene uncharacterized LOC124902475 Neighboring gene RNA, 7SL, cytoplasmic 733, pseudogene Neighboring gene uncharacterized LOC105378410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88965395-88965896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88987203-88987977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88988752-88989526 Neighboring gene NUTM2A antisense RNA 1 Neighboring gene NUT family member 2A Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:89102067-89102674 Neighboring gene long intergenic non-protein coding RNA 863

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC5560

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in chromatin NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in site of double-strand break NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    shieldin complex subunit 2
    Names
    RINN1-REV7-interacting novel NHEJ regulator 2
    family with sequence similarity 35 member A
    protein FAM35A
    shield complex subunit 2

    NCBI Reference Sequences (RefSeq)

    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_001330112.2NP_001317041.1  shieldin complex subunit 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL136982, AL645992
      Consensus CDS
      CCDS81484.1
      UniProtKB/Swiss-Prot
      Q86V20
      Related
      ENSP00000298786.3, ENST00000298786.5
      Conserved Domains (1) summary
      pfam15793
      Location:720892
      FAM35_C; Protein family FAM35, C-terminal
    2. NM_001377158.1NP_001364087.1  shieldin complex subunit 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform 2.
      Source sequence(s)
      AL136982, AL645992
      Consensus CDS
      CCDS7383.1
      UniProtKB/Swiss-Prot
      O95885, Q86V20, Q9H991
      Conserved Domains (1) summary
      pfam15793
      Location:655823
      FAM35_C; Protein family FAM35, C-terminal
    3. NM_001377159.1NP_001364088.1  shieldin complex subunit 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
      Source sequence(s)
      AL136982, AL645992
      Consensus CDS
      CCDS7383.1
      UniProtKB/Swiss-Prot
      O95885, Q86V20, Q9H991
      Conserved Domains (1) summary
      pfam15793
      Location:655823
      FAM35_C; Protein family FAM35, C-terminal
    4. NM_001377160.1NP_001364089.1  shieldin complex subunit 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:703871
      FAM35_C; Protein family FAM35, C-terminal
    5. NM_001377161.1NP_001364090.1  shieldin complex subunit 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:722875
      FAM35_C; Protein family FAM35, C-terminal
    6. NM_001377162.1NP_001364091.1  shieldin complex subunit 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:685856
      FAM35_C; Protein family FAM35, C-terminal
    7. NM_001377163.1NP_001364092.1  shieldin complex subunit 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:721840
      FAM35_C; Protein family FAM35, C-terminal
    8. NM_001377164.1NP_001364093.1  shieldin complex subunit 2 isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variant 10, encodes isoform 7.
      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:619787
      FAM35_C; Protein family FAM35, C-terminal
    9. NM_001377165.1NP_001364094.1  shieldin complex subunit 2 isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variant 9, encodes isoform 7.
      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:619787
      FAM35_C; Protein family FAM35, C-terminal
    10. NM_001377166.1NP_001364095.1  shieldin complex subunit 2 isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 12 and 13, encodes isoform 8.
      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:372543
      FAM35_C; Protein family FAM35, C-terminal
    11. NM_001377167.1NP_001364096.1  shieldin complex subunit 2 isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variants 11 and 13, encodes isoform 8.
      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:372543
      FAM35_C; Protein family FAM35, C-terminal
    12. NM_001377168.1NP_001364097.1  shieldin complex subunit 2 isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 11 and 12, encodes isoform 8.
      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:372543
      FAM35_C; Protein family FAM35, C-terminal
    13. NM_001377169.1NP_001364098.1  shieldin complex subunit 2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:372520
      FAM35_C; Protein family FAM35, C-terminal
    14. NM_001377170.1NP_001364099.1  shieldin complex subunit 2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:253424
      FAM35_C; Protein family FAM35, C-terminal
    15. NM_001377171.1NP_001364100.1  shieldin complex subunit 2 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:404575
      FAM35_C; Protein family FAM35, C-terminal
    16. NM_001377172.1NP_001364101.1  shieldin complex subunit 2 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
      Conserved Domains (1) summary
      pfam15793
      Location:306474
      FAM35_C; Protein family FAM35, C-terminal
    17. NM_019054.3NP_061927.2  shieldin complex subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_061927.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. Variants 2-4 all encode the same isoform (2).
      Source sequence(s)
      AK022978, BC051863
      Consensus CDS
      CCDS7383.1
      UniProtKB/Swiss-Prot
      O95885, Q86V20, Q9H991
      Related
      ENSP00000298784.1, ENST00000298784.5
      Conserved Domains (1) summary
      pfam15793
      Location:655823
      FAM35_C; Protein family FAM35, C-terminal

    RNA

    1. NR_165105.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
    2. NR_165106.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992
    3. NR_165108.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136982, AL645992

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      87094473..87191465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425370.1XP_047281326.1  shieldin complex subunit 2 isoform X1

    2. XM_047425371.1XP_047281327.1  shieldin complex subunit 2 isoform X2

    3. XM_047425374.1XP_047281330.1  shieldin complex subunit 2 isoform X5

    4. XM_047425375.1XP_047281331.1  shieldin complex subunit 2 isoform X6

    5. XM_047425372.1XP_047281328.1  shieldin complex subunit 2 isoform X3

    6. XM_047425373.1XP_047281329.1  shieldin complex subunit 2 isoform X4

    7. XM_047425376.1XP_047281332.1  shieldin complex subunit 2 isoform X7

      UniProtKB/Swiss-Prot
      O95885, Q86V20, Q9H991
    8. XM_047425377.1XP_047281333.1  shieldin complex subunit 2 isoform X8

    9. XM_047425378.1XP_047281334.1  shieldin complex subunit 2 isoform X9

    10. XM_047425379.1XP_047281335.1  shieldin complex subunit 2 isoform X10

    11. XM_047425380.1XP_047281336.1  shieldin complex subunit 2 isoform X11

    12. XM_011539877.3XP_011538179.1  shieldin complex subunit 2 isoform X1

      See identical proteins and their annotated locations for XP_011538179.1

      Conserved Domains (1) summary
      pfam15793
      Location:769940
      FAM35_C; Protein family FAM35, C-terminal
    13. XM_011539879.3XP_011538181.1  shieldin complex subunit 2 isoform X1

      See identical proteins and their annotated locations for XP_011538181.1

      Conserved Domains (1) summary
      pfam15793
      Location:769940
      FAM35_C; Protein family FAM35, C-terminal
    14. XM_006717905.4XP_006717968.1  shieldin complex subunit 2 isoform X1

      See identical proteins and their annotated locations for XP_006717968.1

      Conserved Domains (1) summary
      pfam15793
      Location:769940
      FAM35_C; Protein family FAM35, C-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      87978839..88075088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366137.1XP_054222112.1  shieldin complex subunit 2 isoform X1

    2. XM_054366136.1XP_054222111.1  shieldin complex subunit 2 isoform X12

    3. XM_054366138.1XP_054222113.1  shieldin complex subunit 2 isoform X1

    4. XM_054366134.1XP_054222109.1  shieldin complex subunit 2 isoform X2

    5. XM_054366135.1XP_054222110.1  shieldin complex subunit 2 isoform X6

    6. XM_054366139.1XP_054222114.1  shieldin complex subunit 2 isoform X8

    7. XM_054366140.1XP_054222115.1  shieldin complex subunit 2 isoform X9