TBX4 | ENSG00000121075 | NCBI 9496

Details for: TBX4

Gene ID: 9496

Symbol: TBX4

Ensembl ID: ENSG00000121075

Description: T-box transcription factor 4

Associated with

Angiogenesis
(GO:0001525)
Cell fate specification
(GO:0001708)
Chromatin
(GO:0000785)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna binding
(GO:0003677)
Embryonic hindlimb morphogenesis
(GO:0035116)
Embryonic lung development
(GO:1990401)
Limb morphogenesis
(GO:0035108)
Lung development
(GO:0030324)
Morphogenesis of an epithelium
(GO:0002009)
Nucleus
(GO:0005634)
Positive regulation of dna-templated transcription
(GO:0045893)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Skeletal system morphogenesis
(GO:0048705)

Other Information

Proteins

T-box transcription factor TBX4

Genular Protein ID: 3931523134

Symbol: TBX4_HUMAN

Name: T-box transcription factor TBX4

UniProtKB Accession Codes:

P57082 A5PKU7 B2RMT1 B7ZLV3

Database IDs:

Citations:

PubMed ID: 10945475

Title: Virtual cloning and physical mapping of a human T-box gene, TBX4.

PubMed ID: 10945475

DOI: 10.1006/geno.2000.6222

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15106123

Title: Mutations in the human TBX4 gene cause small patella syndrome.

PubMed ID: 15106123

DOI: 10.1086/421331

PubMed ID: 24038782

Title: A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

PubMed ID: 24038782

DOI: 10.1002/ajmg.a.36134

PubMed ID: 31761294

Title: Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia.

PubMed ID: 31761294

DOI: 10.1016/j.ajhg.2019.10.013

Sequence Information:

Length: 545
Mass: 60204
Checksum: B822FD05EE98C8CD
Sequence:

MLQDKGLSES EEAFRAPGPA LGEASAANAP EPALAAPGLS GAALGSPPGP GADVVAAAAA 
EQTIENIKVG LHEKELWKKF HEAGTEMIIT KAGRRMFPSY KVKVTGMNPK TKYILLIDIV 
PADDHRYKFC DNKWMVAGKA EPAMPGRLYV HPDSPATGAH WMRQLVSFQK LKLTNNHLDP 
FGHIILNSMH KYQPRLHIVK ADENNAFGSK NTAFCTHVFP ETSFISVTSY QNHKITQLKI 
ENNPFAKGFR GSDDSDLRVA RLQSKEYPVI SKSIMRQRLI SPQLSATPDV GPLLGTHQAL 
QHYQHENGAH SQLAEPQDLP LSTFPTQRDS SLFYHCLKRR DGTRHLDLPC KRSYLEAPSS 
VGEDHYFRSP PPYDQQMLSP SYCSEVTPRE ACMYSGSGPE IAGVSGVDDL PPPPLSCNMW 
TSVSPYTSYS VQTMETVPYQ PFPTHFTATT MMPRLPTLSA QSSQPPGNAH FSVYNQLSQS 
QVRERGPSAS FPRERGLPQG CERKPPSPHL NAANEFLYSQ TFSLSRESSL QYHSGMGTVE 
NWTDG

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: TBX4

Associated with

Other Information

Virtual cloning and physical mapping of a human T-box gene, TBX4. PubMed ID: 10945475

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Mutations in the human TBX4 gene cause small patella syndrome. PubMed ID: 15106123

A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. PubMed ID: 24038782