Format

Send to:

Choose Destination

ZNF713 zinc finger protein 713 [ Homo sapiens (human) ]

Gene ID: 349075, updated on 12-Oct-2019

Summary

Official Symbol
ZNF713provided by HGNC
Official Full Name
zinc finger protein 713provided by HGNC
Primary source
HGNC:HGNC:22043
See related
Ensembl:ENSG00000178665 MIM:616181
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
Summary
The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of this gene and it has been proposed that it may be associated with Autistic Spectrum Disorder. [provided by RefSeq, Jul 2016]
Expression
Broad expression in brain (RPKM 2.1), testis (RPKM 1.9) and 25 other tissues See more
Orthologs

Genomic context

See ZNF713 in Genome Data Viewer
Location:
7p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (55887456..55942225)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (55955148..56008519)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene septin 14 Neighboring gene cell division cycle associated 8 pseudogene Neighboring gene cell division cycle 42 pseudogene Neighboring gene FRA7A repeat instability region Neighboring gene mitochondrial ribosomal protein S17 Neighboring gene nipsnap homolog 2

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

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MRPS17

Homology

Clone Names

  • FLJ39963

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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_001366796.2NP_001353725.1  zinc finger protein 713 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092579, AC092647
    Related
    ENSP00000487818.1, ENST00000633730.1
    Conserved Domains (5) summary
    smart00349
    Location:1978
    KRAB; krueppel associated box
    COG5048
    Location:271336
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:325405
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:331351
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:371396
    zf-H2C2_2; Zinc-finger double domain
  2. NM_182633.3NP_872439.2  zinc finger protein 713 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC092579, AC092647, AI274573, AL539604, BC094796, BM991493, DA690512, DA743742
    Consensus CDS
    CCDS34639.2
    UniProtKB/TrEMBL
    A0A0M3HEQ9
    Related
    ENSP00000416662.3, ENST00000429591.4
    Conserved Domains (6) summary
    smart00349
    Location:3291
    KRAB; krueppel associated box
    COG5048
    Location:284349
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:344364
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:286308
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:3271
    KRAB; KRAB box
    pfam13465
    Location:384409
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    55887456..55942225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center