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ZNF248 zinc finger protein 248 [ Homo sapiens (human) ]

Gene ID: 57209, updated on 11-Jun-2021

Summary

Official Symbol
ZNF248provided by HGNC
Official Full Name
zinc finger protein 248provided by HGNC
Primary source
HGNC:HGNC:13041
See related
Ensembl:ENSG00000198105
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
bA162G10.3
Expression
Ubiquitous expression in endometrium (RPKM 2.8), thyroid (RPKM 2.7) and 24 other tissues See more
Orthologs
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Genomic context

See ZNF248 in Genome Data Viewer
Location:
10p11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (37758452..37858202, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (38047466..38147031, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724533 Neighboring gene uncharacterized LOC105376498 Neighboring gene zinc finger protein 33B pseudogene 1 Neighboring gene tousled like kinase 2 pseudogene 2 Neighboring gene uncharacterized LOC107984224 Neighboring gene zinc finger protein 37C, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
Common body mass index-associated variants confer risk of extreme obesity.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0137, MGC131882

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
zinc finger protein 248
Names
KRAB protein domain
Kruppel-type zinc finger protein
bA162G10.3 (zinc finger protein)

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_001267597.2NP_001254526.1  zinc finger protein 248 isoform 1

    See identical proteins and their annotated locations for NP_001254526.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 6-11 all encode the same isoform (1).
    Source sequence(s)
    AA836603, AJ491695, AK299357, AL135791
    Consensus CDS
    CCDS7194.1
    UniProtKB/Swiss-Prot
    Q8NDW4
    UniProtKB/TrEMBL
    A2RUI7
    Related
    ENSP00000349882.4, ENST00000357328.8
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_001267605.2NP_001254534.1  zinc finger protein 248 isoform 2

    See identical proteins and their annotated locations for NP_001254534.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks a segment in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3, 4, and 13-17 all encode the same isoform (2).
    Source sequence(s)
    AA836603, AJ491695, AJ492196, AL135791, DB073240
    Consensus CDS
    CCDS58077.1
    UniProtKB/Swiss-Prot
    Q8NDW4
    Related
    ENSP00000363778.3, ENST00000374648.7
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  3. NM_001267606.2NP_001254535.1  zinc finger protein 248 isoform 2

    See identical proteins and their annotated locations for NP_001254535.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has additional segments in the 5' UTR and lacks a segment in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3, 4, and 13-17 all encode the same isoform (2).
    Source sequence(s)
    AA836603, AJ491695, AL135791, BC110869
    Consensus CDS
    CCDS58077.1
    UniProtKB/Swiss-Prot
    Q8NDW4
    Related
    ENSP00000484191.1, ENST00000611278.4
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  4. NM_001267607.3NP_001254536.1  zinc finger protein 248 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 12 both encode the same isoform (3).
    Source sequence(s)
    AL132657, AL135791
    Consensus CDS
    CCDS73087.1
    UniProtKB/TrEMBL
    A0A087WTK3
    Related
    ENSP00000477940.1, ENST00000615949.6
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  5. NM_001352469.2NP_001339398.1  zinc finger protein 248 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 2, and 7-11, encodes isoform 1.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS7194.1
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]
  6. NM_001352470.2NP_001339399.1  zinc finger protein 248 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 2, 6, and 8-11, encodes isoform 1.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS7194.1
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]
  7. NM_001352471.2NP_001339400.1  zinc finger protein 248 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 2, 6, 7, and 9-11, encodes isoform 1.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS7194.1
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]
  8. NM_001352472.2NP_001339401.1  zinc finger protein 248 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 1, 2, 6-8, 10, and 11, encodes isoform 1.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS7194.1
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]
  9. NM_001352473.2NP_001339402.1  zinc finger protein 248 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 2, 6-9, and 11, encodes isoform 1.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS7194.1
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]
  10. NM_001352474.2NP_001339403.1  zinc finger protein 248 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11), as well as variants 1, 2, and 6-10, encodes isoform 1.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS7194.1
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]
  11. NM_001352476.2NP_001339405.1  zinc finger protein 248 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variant 5, encodes isoform 3.
    Source sequence(s)
    AL132657, AL135791
    Consensus CDS
    CCDS73087.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  12. NM_001352477.2NP_001339406.1  zinc finger protein 248 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 3, 4, and 14-17, encodes isoform 2.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS58077.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  13. NM_001352478.2NP_001339407.1  zinc finger protein 248 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 3, 4, 13, and 15-17, encodes isoform 2.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS58077.1
    Related
    ENSP00000379214.3, ENST00000395873.7
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  14. NM_001352479.2NP_001339408.1  zinc finger protein 248 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 3, 4, 13, 14, 16, and 17, encodes isoform 2.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS58077.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  15. NM_001352480.2NP_001339409.1  zinc finger protein 248 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variants 3, 4, 13-15, and 17, encodes isoform 2.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS58077.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  16. NM_001352481.2NP_001339410.1  zinc finger protein 248 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variants 3, 4, and 13-16, encodes isoform 2.
    Source sequence(s)
    AL135791
    Consensus CDS
    CCDS58077.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  17. NM_001352482.2NP_001339411.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variants 19-28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  18. NM_001352483.1NP_001339412.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  19. NM_001352484.2NP_001339413.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 18, 19, and 21-28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  20. NM_001352485.1NP_001339414.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21), as well as variants 18-20 and 22-28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  21. NM_001352486.2NP_001339415.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (22), as well as variants 18-21 and 23-28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  22. NM_001352487.2NP_001339416.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (23), as well as variants 18-22 and 24-28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  23. NM_001352488.2NP_001339417.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (24), as well as variants 18-23 and 25-28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  24. NM_001352489.2NP_001339418.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (25), as well as variants 18-24 and 26-28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  25. NM_001352490.2NP_001339419.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (26), as well as variants 18-25, 27, and 28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  26. NM_001352491.2NP_001339420.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (27), as well as variants 18-26 and 28, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  27. NM_001352492.2NP_001339421.1  zinc finger protein 248 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (28), as well as variants 18-27, encodes isoform 4.
    Source sequence(s)
    AL135791
    Conserved Domains (2) summary
    COG5048
    Location:262328
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:350370
    ZF_C2H2; C2H2 Zn finger [structural motif]
  28. NM_001352493.2NP_001339422.1  zinc finger protein 248 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (29), as well as variant 30, encodes isoform 5.
    Source sequence(s)
    AL132657, AL135791
    Consensus CDS
    CCDS86083.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  29. NM_001352494.2NP_001339423.1  zinc finger protein 248 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (30), as well as variant 29, encodes isoform 5.
    Source sequence(s)
    AL132657, AL135791
    Consensus CDS
    CCDS86083.1
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  30. NM_021045.3NP_066383.1  zinc finger protein 248 isoform 1

    See identical proteins and their annotated locations for NP_066383.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2, and 6-11 all encode the same isoform (1).
    Source sequence(s)
    AA836603, AJ491695, AL135791, DB073240
    Consensus CDS
    CCDS7194.1
    UniProtKB/Swiss-Prot
    Q8NDW4
    UniProtKB/TrEMBL
    A2RUI7
    Related
    ENSP00000379208.3, ENST00000395867.8
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

  1. NR_147991.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL135791
  2. NR_147992.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  3. NR_147993.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  4. NR_147994.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  5. NR_147995.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  6. NR_147996.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL135791
  7. NR_147997.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  8. NR_147998.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  9. NR_147999.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  10. NR_148000.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  11. NR_148001.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  12. NR_148002.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  13. NR_148003.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL135791
  14. NR_148004.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  15. NR_148005.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL135791
  16. NR_148006.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791
  17. NR_148007.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132657, AL135791

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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    37758452..37858202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016448.1XP_016871937.1  zinc finger protein 248 isoform X3

  2. XM_017016451.1XP_016871940.1  zinc finger protein 248 isoform X5

    UniProtKB/TrEMBL
    S4R340
    Related
    ENSP00000473904.1, ENST00000485560.5
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  3. XM_011519600.2XP_011517902.1  zinc finger protein 248 isoform X4

    See identical proteins and their annotated locations for XP_011517902.1

    UniProtKB/Swiss-Prot
    Q8NDW4
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  4. XM_011519599.1XP_011517901.1  zinc finger protein 248 isoform X4

    See identical proteins and their annotated locations for XP_011517901.1

    UniProtKB/Swiss-Prot
    Q8NDW4
    Conserved Domains (1) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
  5. XM_017016445.1XP_016871934.1  zinc finger protein 248 isoform X2

    UniProtKB/Swiss-Prot
    Q8NDW4
    UniProtKB/TrEMBL
    A2RUI7
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:406472
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:494514
    ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

  1. XR_001747152.1 RNA Sequence

  2. XR_001747150.1 RNA Sequence

  3. XR_002956992.1 RNA Sequence

  4. XR_001747148.1 RNA Sequence

  5. XR_002956994.1 RNA Sequence

  6. XR_002956993.1 RNA Sequence

  7. XR_001747156.1 RNA Sequence

  8. XR_930496.1 RNA Sequence

  9. XR_001747145.1 RNA Sequence

  10. XR_001747146.1 RNA Sequence

  11. XR_001747154.1 RNA Sequence

  12. XR_001747153.1 RNA Sequence

  13. XR_001747151.1 RNA Sequence

  14. XR_001747149.1 RNA Sequence

  15. XR_001747147.1 RNA Sequence

  16. XR_001747155.1 RNA Sequence

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