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TCF12 transcription factor 12 [ Homo sapiens (human) ]

Gene ID: 6938, updated on 27-Nov-2024

Summary

Official Symbol
TCF12provided by HGNC
Official Full Name
transcription factor 12provided by HGNC
Primary source
HGNC:HGNC:11623
See related
Ensembl:ENSG00000140262 MIM:600480; AllianceGenome:HGNC:11623
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
HEB; p64; CRS3; HH26; HTF4; TCF-12; bHLHb20; HsT17266
Summary
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 23.3), endometrium (RPKM 15.8) and 25 other tissues See more
Orthologs
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Genomic context

See TCF12 in Genome Data Viewer
Location:
15q21.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (56918090..57291310)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (54721353..55094637)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57210288..57583508)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2351 silencer Neighboring gene acyl-CoA binding domain containing 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6467 Neighboring gene NANOG hESC enhancer GRCh37_chr15:57184049-57184608 Neighboring gene long intergenic non-protein coding RNA 3065 Neighboring gene TCF12 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6469 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6472 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:57269446-57269630 Neighboring gene VISTA enhancer hs357 Neighboring gene VISTA enhancer hs623 Neighboring gene MPRA-validated peak2352 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:57490067-57490736 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:57490737-57491406 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:57491407-57492076 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9460 Neighboring gene small nucleolar RNA, C/D box 13D Neighboring gene ReSE screen-validated silencer GRCh37_chr15:57598867-57599070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57615704-57616211 Neighboring gene long intergenic non-protein coding RNA 926 Neighboring gene long intergenic non-protein coding RNA 1413

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
Hypogonadotropic hypogonadism 26 with or without anosmia
MedGen: C5676903 OMIM: 619718 GeneReviews: Not available
Compare labs
TCF12-related craniosynostosis
MedGen: C3715051 OMIM: 615314 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-08-16)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-16)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of transcription factor 12 (TCF12; HTF4) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr downregulates the gene expression of TCF12 in human monocyte-derived dendritic cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables E-box binding IEA
Inferred from Electronic Annotation
more info
 
enables HMG box domain binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cAMP response element binding IEA
Inferred from Electronic Annotation
more info
 
enables cis-regulatory region sequence-specific DNA binding IC
Inferred by Curator
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in muscle organ development TAS
Traceable Author Statement
more info
PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in response to gonadotropin-releasing hormone IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
transcription factor 12
Names
DNA-binding protein HTF4
E-box-binding protein
class B basic helix-loop-helix protein 20
helix-loop-helix transcription factor 4
transcription factor HTF-4

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.

Genomic

  1. NG_033851.2 RefSeqGene

    Range
    5555..376764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306219.3NP_001293148.1  transcription factor 12 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks multiple exon in the 5' UTR and 5' coding region and uses an alternate 5' most exon compared to variant 1. The encoded isoform (d) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC016525, AC090532
    Consensus CDS
    CCDS76760.1
    UniProtKB/TrEMBL
    B4DH96, F5GY10
    Related
    ENSP00000440017.1, ENST00000543579.5
    Conserved Domains (1) summary
    smart00353
    Location:437490
    HLH; helix loop helix domain
  2. NM_001306220.3NP_001293149.1  transcription factor 12 isoform e

    See identical proteins and their annotated locations for NP_001293149.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the 5' UTR and coding region compared to variant 1. The encoded isoform (e) is shorter and has a distict N-terminus compared to isoform a.
    Source sequence(s)
    AC016525, AC090532
    Consensus CDS
    CCDS76761.1
    UniProtKB/Swiss-Prot
    Q99081
    Related
    ENSP00000444696.1, ENST00000537840.5
    Conserved Domains (2) summary
    smart00353
    Location:347400
    HLH; helix loop helix domain
    pfam10428
    Location:13152
    SOG2; RAM signalling pathway protein
  3. NM_001322151.2NP_001309080.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10160.1
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  4. NM_001322152.2NP_001309081.1  transcription factor 12 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (2) summary
    smart00353
    Location:606659
    HLH; helix loop helix domain
    pfam09786
    Location:275448
    CytochromB561_N; Cytochrome B561, N terminal
  5. NM_001322154.2NP_001309083.1  transcription factor 12 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    UniProtKB/TrEMBL
    B4DH96
    Conserved Domains (2) summary
    smart00353
    Location:388441
    HLH; helix loop helix domain
    pfam09786
    Location:56229
    CytochromB561_N; Cytochrome B561, N terminal
  6. NM_001322156.2NP_001309085.1  transcription factor 12 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (2) summary
    smart00353
    Location:549602
    HLH; helix loop helix domain
    pfam09786
    Location:217390
    CytochromB561_N; Cytochrome B561, N terminal
  7. NM_001322157.3NP_001309086.1  transcription factor 12 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  8. NM_001322158.2NP_001309087.1  transcription factor 12 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:525578
    HLH; helix loop helix domain
  9. NM_001322159.3NP_001309088.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10160.1
    UniProtKB/TrEMBL
    B4DGI9
    Related
    ENSP00000453876.1, ENST00000559609.5
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  10. NM_001322161.2NP_001309090.1  transcription factor 12 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (2) summary
    smart00353
    Location:606659
    HLH; helix loop helix domain
    pfam09786
    Location:275447
    CytochromB561_N; Cytochrome B561, N terminal
  11. NM_001322162.2NP_001309091.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10160.1
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  12. NM_001322164.2NP_001309093.1  transcription factor 12 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:595648
    HLH; helix loop helix domain
  13. NM_001322165.2NP_001309094.1  transcription factor 12 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  14. NM_003205.4NP_003196.1  transcription factor 12 isoform b

    See identical proteins and their annotated locations for NP_003196.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region (compared to variant 1), resulting in a protein that maintains the reading frame but is shorter, compared to isoform a. Variants 3 and 4 encode the same isoform b.
    Source sequence(s)
    AC016525, BC051769, BU178185, M83233
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
    UniProtKB/TrEMBL
    B4DGI9
    Related
    ENSP00000267811.5, ENST00000267811.9
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  15. NM_207036.2NP_996919.1  transcription factor 12 isoform a

    See identical proteins and their annotated locations for NP_996919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform a.
    Source sequence(s)
    AC016525, BC050556, BK001049
    Consensus CDS
    CCDS10160.1
    UniProtKB/TrEMBL
    B4DGI9
    Related
    ENSP00000388940.2, ENST00000438423.6
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  16. NM_207037.2NP_996920.1  transcription factor 12 isoform a

    See identical proteins and their annotated locations for NP_996920.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform a.
    Source sequence(s)
    AC016525, BC050556, BK001049, BU178185
    Consensus CDS
    CCDS10160.1
    UniProtKB/TrEMBL
    B4DGI9
    Related
    ENSP00000331057.6, ENST00000333725.10
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  17. NM_207038.2NP_996921.1  transcription factor 12 isoform b

    See identical proteins and their annotated locations for NP_996921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the coding region (compared to variant 1), resulting in a protein that maintains the reading frame but is shorter, compared to isoform a. Variants 3 and 4 encode the same isoform b.
    Source sequence(s)
    AC016525, BC051769, BK001049, M80627
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    B4E1W1, Q7Z3D9, Q86TC1, Q86VM2, Q99081
    UniProtKB/TrEMBL
    B4DGI9
    Related
    ENSP00000453737.1, ENST00000557843.5
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  18. NM_207040.2NP_996923.1  transcription factor 12 isoform c

    See identical proteins and their annotated locations for NP_996923.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the 5' UTR and coding region compared to variant 1. This results in a shorter isoform (c) with a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC016525, AC090532, AU120213, BC051769
    Consensus CDS
    CCDS42042.1
    UniProtKB/TrEMBL
    B4DH96
    Related
    ENSP00000342459.3, ENST00000343827.7
    Conserved Domains (1) summary
    smart00353
    Location:413466
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    56918090..57291310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521960.4XP_011520262.1  transcription factor 12 isoform X1

    See identical proteins and their annotated locations for XP_011520262.1

    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (2) summary
    smart00353
    Location:619672
    HLH; helix loop helix domain
    pfam09786
    Location:287460
    CytochromB561_N; Cytochrome B561, N terminal
  2. XM_047432971.1XP_047288927.1  transcription factor 12 isoform X3

  3. XM_047432972.1XP_047288928.1  transcription factor 12 isoform X4

  4. XM_047432973.1XP_047288929.1  transcription factor 12 isoform X5

  5. XM_011521959.4XP_011520261.1  transcription factor 12 isoform X1

    See identical proteins and their annotated locations for XP_011520261.1

    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (2) summary
    smart00353
    Location:619672
    HLH; helix loop helix domain
    pfam09786
    Location:287460
    CytochromB561_N; Cytochrome B561, N terminal
  6. XM_011521961.4XP_011520263.1  transcription factor 12 isoform X2

    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (2) summary
    smart00353
    Location:618671
    HLH; helix loop helix domain
    pfam09786
    Location:287460
    CytochromB561_N; Cytochrome B561, N terminal
  7. XM_011521962.4XP_011520264.1  transcription factor 12 isoform X3

    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:595648
    HLH; helix loop helix domain
  8. XM_011521963.4XP_011520265.1  transcription factor 12 isoform X4

    UniProtKB/TrEMBL
    B4DGI9
    Conserved Domains (1) summary
    smart00353
    Location:594647
    HLH; helix loop helix domain
  9. XM_017022520.3XP_016878009.1  transcription factor 12 isoform X5

    UniProtKB/TrEMBL
    B4DGI9
  10. XM_047432977.1XP_047288933.1  transcription factor 12 isoform X9

  11. XM_047432978.1XP_047288934.1  transcription factor 12 isoform X11

  12. XM_047432975.1XP_047288931.1  transcription factor 12 isoform X7

  13. XM_047432976.1XP_047288932.1  transcription factor 12 isoform X8

  14. XM_047432974.1XP_047288930.1  transcription factor 12 isoform X6

  15. XM_011521969.2XP_011520271.1  transcription factor 12 isoform X8

    UniProtKB/TrEMBL
    B4DH96
    Conserved Domains (1) summary
    smart00353
    Location:412465
    HLH; helix loop helix domain
  16. XM_011521966.3XP_011520268.1  transcription factor 12 isoform X10

    UniProtKB/TrEMBL
    B4DH96
    Conserved Domains (2) summary
    smart00353
    Location:371424
    HLH; helix loop helix domain
    pfam09786
    Location:67212
    CytochromB561_N; Cytochrome B561, N terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    54721353..55094637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378670.1XP_054234645.1  transcription factor 12 isoform X1

  2. XM_054378673.1XP_054234648.1  transcription factor 12 isoform X3

  3. XM_054378675.1XP_054234650.1  transcription factor 12 isoform X4

  4. XM_054378677.1XP_054234652.1  transcription factor 12 isoform X5

  5. XM_054378669.1XP_054234644.1  transcription factor 12 isoform X1

  6. XM_054378671.1XP_054234646.1  transcription factor 12 isoform X2

  7. XM_054378672.1XP_054234647.1  transcription factor 12 isoform X3

  8. XM_054378674.1XP_054234649.1  transcription factor 12 isoform X4

  9. XM_054378676.1XP_054234651.1  transcription factor 12 isoform X5

  10. XM_054378682.1XP_054234657.1  transcription factor 12 isoform X9

  11. XM_054378684.1XP_054234659.1  transcription factor 12 isoform X11

  12. XM_054378679.1XP_054234654.1  transcription factor 12 isoform X7

  13. XM_054378681.1XP_054234656.1  transcription factor 12 isoform X8

  14. XM_054378678.1XP_054234653.1  transcription factor 12 isoform X6

  15. XM_054378680.1XP_054234655.1  transcription factor 12 isoform X8

  16. XM_054378683.1XP_054234658.1  transcription factor 12 isoform X10