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ZIM2 zinc finger imprinted 2 [ Homo sapiens (human) ]

Gene ID: 23619, updated on 23-Nov-2021

Summary

Official Symbol
ZIM2provided by HGNC
Official Full Name
zinc finger imprinted 2provided by HGNC
Primary source
HGNC:HGNC:12875
See related
Ensembl:ENSG00000269699
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZNF656
Summary
In human, ZIM2 and PEG3 (GeneID:5178) are two distinct genes that share a set of 5' exons and have a common promoter, and both genes are paternally expressed. Alternative splicing events connect the shared exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. This is in contrast to mouse and cow, where ZIM2 and PEG3 genes do not share exons in common, and the imprinting status of ZIM2 is also not conserved amongst mammals. Additional 5' alternatively spliced transcripts encoding the same protein have been found for the human ZIM2 gene. [provided by RefSeq, Oct 2010]
Expression
Biased expression in ovary (RPKM 34.2), placenta (RPKM 19.3) and 4 other tissues See more
Orthologs
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Genomic context

See ZIM2 in Genome Data Viewer
Location:
19q13.43
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (56774547..56840726, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (57285915..57352094, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372473 Neighboring gene uncharacterized LOC105372472 Neighboring gene olfactory receptor family 5 subfamily AH member 1 pseudogene Neighboring gene ZIM2 antisense RNA 1 Neighboring gene PEG3 antisense RNA 1 Neighboring gene paternally expressed 3 Neighboring gene MER1 repeat containing imprinted transcript 1 Neighboring gene Sharpr-MPRA regulatory region 10473

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

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-05-17)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-05-17)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
zinc finger imprinted 2
Names
zinc finger protein 656

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_012989.1 RefSeqGene

    Range
    5004..71183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146326.2NP_001139798.1  zinc finger imprinted 2 isoform b

    See identical proteins and their annotated locations for NP_001139798.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional 5' non-coding exon, therefore, differs in the 5' UTR compared to variant 1. Variants 1-6, 14, and 15 all encode the same isoform (b).
    Source sequence(s)
    AF166122, AI418432, BC104876, DC400394
    Consensus CDS
    CCDS33123.1
    UniProtKB/Swiss-Prot
    Q9NZV7
    UniProtKB/TrEMBL
    A0A024R4S8
    Related
    ENSP00000470326.1, ENST00000601070.5
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001146327.2NP_001139799.1  zinc finger imprinted 2 isoform b

    See identical proteins and their annotated locations for NP_001139799.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional 5' non-coding exon and uses a different acceptor splice site at one of the 5' non-coding exons, therefore, differs in the 5' UTR compared to variant 1. Variants 1-6, 14, and 15 all encode the same isoform (b).
    Source sequence(s)
    AF166122, AI418432, BC104878, DC400394
    Consensus CDS
    CCDS33123.1
    UniProtKB/Swiss-Prot
    Q9NZV7
    UniProtKB/TrEMBL
    A0A024R4S8
    Related
    ENSP00000486502.1, ENST00000629319.2
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001369770.1NP_001356699.1  zinc finger imprinted 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3, 5, 6, 14, and 15, encodes isoform b.
    Source sequence(s)
    AC006115
    Related
    ENSP00000468984.1, ENST00000599935.5
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001369771.1NP_001356700.1  zinc finger imprinted 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1-4, 6, 14, and 15, encodes isoform b.
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain
  5. NM_001369772.1NP_001356701.1  zinc finger imprinted 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1-5, 14, and 15, encodes isoform b.
    Source sequence(s)
    AC006115
    Related
    ENSP00000472306.1, ENST00000593711.6
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain
  6. NM_001369773.1NP_001356702.1  zinc finger imprinted 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 8 and 13, encodes the longer isoform (a).
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    smart00349
    Location:207263
    KRAB; krueppel associated box
    sd00017
    Location:445465
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:497519
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:373396
    zf-H2C2_2; Zinc-finger double domain
  7. NM_001369774.1NP_001356703.1  zinc finger imprinted 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 7 and 13, encodes the longer isoform (a).
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    smart00349
    Location:207263
    KRAB; krueppel associated box
    sd00017
    Location:445465
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:497519
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:373396
    zf-H2C2_2; Zinc-finger double domain
  8. NM_001387356.1NP_001374285.1  zinc finger imprinted 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 7 and 8, encodes the longer isoform (a).
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    smart00349
    Location:207263
    KRAB; krueppel associated box
    sd00017
    Location:445465
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:497519
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:373396
    zf-H2C2_2; Zinc-finger double domain
  9. NM_001387357.1NP_001374286.1  zinc finger imprinted 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 1-6 and 15, encodes isoform b.
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain
  10. NM_001387358.1NP_001374287.1  zinc finger imprinted 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 1-6 and 14, encodes isoform b.
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain
  11. NM_015363.5NP_056178.3  zinc finger imprinted 2 isoform b

    See identical proteins and their annotated locations for NP_056178.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) was originally described as the ZIM2 transcript (PMID:10708526). Variants 1-6, 14, and 15 all encode the same isoform (b).
    Source sequence(s)
    AF166122, AI418432, DC400394
    Consensus CDS
    CCDS33123.1
    UniProtKB/Swiss-Prot
    Q9NZV7
    UniProtKB/TrEMBL
    A0A024R4S8
    Conserved Domains (4) summary
    smart00349
    Location:176232
    KRAB; krueppel associated box
    sd00017
    Location:414434
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:466488
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:342365
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_163140.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006115
    Related
    ENST00000597281.5
  2. NR_163141.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006115
    Related
    ENST00000595671.5
  3. NR_163142.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006115
  4. NR_163143.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006115
    Related
    ENST00000650111.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    56774547..56840726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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