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ZCCHC12 zinc finger CCHC-type containing 12 [ Homo sapiens (human) ]

Gene ID: 170261, updated on 11-Jun-2021

Summary

Official Symbol
ZCCHC12provided by HGNC
Official Full Name
zinc finger CCHC-type containing 12provided by HGNC
Primary source
HGNC:HGNC:27273
See related
Ensembl:ENSG00000174460 MIM:300701
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
SIZN; SIZN1; PNMA7A
Summary
This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Biased expression in endometrium (RPKM 50.3), brain (RPKM 9.1) and 1 other tissue See more
Orthologs
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Genomic context

See ZCCHC12 in Genome Data Viewer
Location:
Xq24
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (118823824..118826968)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117957787..117960931)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 11 Neighboring gene RBBP8 pseudogene 1 Neighboring gene interleukin 13 receptor subunit alpha 1 Neighboring gene TMEM30B pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 1285 Neighboring gene AKR7A2P pseudogene 1 Neighboring gene COBL pseudogene 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zinc finger CCHC domain-containing protein 12
Names
paraneoplastic Ma antigen family member 7A
smad-interacting zinc finger protein 1
zinc finger, CCHC domain containing 12

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_042836.1 RefSeqGene

    Range
    5082..8226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001312891.2NP_001299820.1  zinc finger CCHC domain-containing protein 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK122676, AW002115, DA075574, HY006302
    Consensus CDS
    CCDS14574.1
    UniProtKB/Swiss-Prot
    Q6PEW1
    Conserved Domains (1) summary
    pfam14893
    Location:9212
    PNMA; PNMA
  2. NM_173798.4NP_776159.1  zinc finger CCHC domain-containing protein 12

    See identical proteins and their annotated locations for NP_776159.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK122676, AW002115
    Consensus CDS
    CCDS14574.1
    UniProtKB/Swiss-Prot
    Q6PEW1
    Related
    ENSP00000308921.2, ENST00000310164.3
    Conserved Domains (1) summary
    pfam14893
    Location:9212
    PNMA; PNMA

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    118823824..118826968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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