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

Gene ID: 54537, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in kidney (RPKM 20.9), thyroid (RPKM 14.9) and 25 other tissues See more
Orthologs
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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