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ZNF250 zinc finger protein 250 [ Homo sapiens (human) ]

Gene ID: 58500, updated on 6-Sep-2022

Summary

Official Symbol
ZNF250provided by HGNC
Official Full Name
zinc finger protein 250provided by HGNC
Primary source
HGNC:HGNC:13044
See related
Ensembl:ENSG00000196150 AllianceGenome:HGNC:13044
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
ZFP647; ZNF647
Summary
Enables identical protein binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 3.2), ovary (RPKM 1.9) and 25 other tissues See more
Orthologs
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Genomic context

See ZNF250 in Genome Data Viewer
Location:
8q24.3
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144876955..144902177, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (146050748..146075971, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (146102340..146127562, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100130027 Neighboring gene zinc finger protein 517 Neighboring gene zinc finger protein 7 Neighboring gene COMM domain containing 5 Neighboring gene uncharacterized LOC124902042 Neighboring gene zinc finger protein 16 Neighboring gene zinc finger protein 252, pseudogene Neighboring gene transmembrane p24 trafficking protein 10 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9718, FLJ57354, MGC111123

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein 250
Names
zinc finger protein (clone 647)
zinc finger protein 647

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_001109689.4NP_001103159.1  zinc finger protein 250 isoform b

    See identical proteins and their annotated locations for NP_001103159.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b).
    Source sequence(s)
    AB208810, AF235103, AK054888, CA422363, DB272357
    Consensus CDS
    CCDS55282.1
    UniProtKB/Swiss-Prot
    P15622
    UniProtKB/TrEMBL
    B3KNS9
    Related
    ENSP00000393442.2, ENST00000417550.7
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:173532
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:196216
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_001363098.2NP_001350027.1  zinc finger protein 250 isoform a

    Status: VALIDATED

    Source sequence(s)
    AF235103, BC017091, CA422363, DA496584, DB272357
    Consensus CDS
    CCDS34972.1
    UniProtKB/Swiss-Prot
    Q96AH9
    Conserved Domains (3) summary
    smart00349
    Location:2282
    KRAB; krueppel associated box
    COG5048
    Location:178537
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:201221
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. NM_001363099.2NP_001350028.1  zinc finger protein 250 isoform a

    Status: VALIDATED

    Source sequence(s)
    AF235103, BC017091, BI820228, CA422363, DB272357
    Consensus CDS
    CCDS34972.1
    UniProtKB/Swiss-Prot
    Q96AH9
    Conserved Domains (3) summary
    smart00349
    Location:2282
    KRAB; krueppel associated box
    COG5048
    Location:178537
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:201221
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. NM_001363100.2NP_001350029.1  zinc finger protein 250 isoform b

    Status: VALIDATED

    Source sequence(s)
    AF235103, BC017091, BI820228, CA422363, CV022909, DB272357
    Consensus CDS
    CCDS55282.1
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:173532
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:196216
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. NM_001363101.2NP_001350030.1  zinc finger protein 250 isoform b

    Status: VALIDATED

    Source sequence(s)
    AF235103, BC017091, BI820228, CA422363, CV022909, DA496584, DB272357
    Consensus CDS
    CCDS55282.1
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:173532
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:196216
    ZF_C2H2; C2H2 Zn finger [structural motif]
  6. NM_001363102.2NP_001350031.1  zinc finger protein 250 isoform b

    Status: VALIDATED

    Source sequence(s)
    AF235103, AK054888, BC017091, CA422363, CV022909, DA782437, DB272357
    Consensus CDS
    CCDS55282.1
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:173532
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:196216
    ZF_C2H2; C2H2 Zn finger [structural motif]
  7. NM_001363103.2NP_001350032.1  zinc finger protein 250 isoform b

    Status: VALIDATED

    Source sequence(s)
    AF235103, BC017091, BI820228, CA422363, CV022909, DB272357, R53168
    Consensus CDS
    CCDS55282.1
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:173532
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:196216
    ZF_C2H2; C2H2 Zn finger [structural motif]
  8. NM_001363104.2NP_001350033.1  zinc finger protein 250 isoform c

    Status: VALIDATED

    Source sequence(s)
    AF235103, AK054888, BC017091, CA422363, DB272357
    Conserved Domains (3) summary
    smart00349
    Location:2282
    KRAB; krueppel associated box
    COG5048
    Location:157516
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:180200
    ZF_C2H2; C2H2 Zn finger [structural motif]
  9. NM_001363105.2NP_001350034.1  zinc finger protein 250 isoform d

    Status: VALIDATED

    Source sequence(s)
    AF235103, BC017091, BI820228, CA422363, DB272357
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:152511
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:175195
    ZF_C2H2; C2H2 Zn finger [structural motif]
  10. NM_001363106.2NP_001350035.1  zinc finger protein 250 isoform d

    Status: VALIDATED

    Source sequence(s)
    AF235103, AK054888, BC017091, CA422363, DB272357, DR000625
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:152511
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:175195
    ZF_C2H2; C2H2 Zn finger [structural motif]
  11. NM_001363107.2NP_001350036.1  zinc finger protein 250 isoform d

    Status: VALIDATED

    Source sequence(s)
    AF235103, BC017091, CA422363, DA496584, DB272357, DR000625
    Conserved Domains (3) summary
    smart00349
    Location:1777
    KRAB; krueppel associated box
    COG5048
    Location:152511
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:175195
    ZF_C2H2; C2H2 Zn finger [structural motif]
  12. NM_021061.5NP_066405.1  zinc finger protein 250 isoform a

    See identical proteins and their annotated locations for NP_066405.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF235103, AK054888, BC017091, CA422363, DB272357
    Consensus CDS
    CCDS34972.1
    UniProtKB/Swiss-Prot
    P15622, Q96AH9
    UniProtKB/TrEMBL
    B3KNS9
    Related
    ENSP00000292579.7, ENST00000292579.11
    Conserved Domains (3) summary
    smart00349
    Location:2282
    KRAB; krueppel associated box
    COG5048
    Location:178537
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:201221
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144876955..144902177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422065.1XP_047278021.1  zinc finger protein 250 isoform X2

  2. XM_047422064.1XP_047278020.1  zinc finger protein 250 isoform X1

    UniProtKB/Swiss-Prot
    Q96AH9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    146050748..146075971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)