ALX4 | ENSG00000052850 | NCBI 60529

Details for: ALX4

Gene ID: 60529

Symbol: ALX4

Ensembl ID: ENSG00000052850

Description: ALX homeobox 4

Associated with

Anterior/posterior pattern specification
(GO:0009952)
Chromatin
(GO:0000785)
Digestive tract development
(GO:0048565)
Dna-binding transcription activator activity, rna polymerase ii-specific
(GO:0001228)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna binding
(GO:0003677)
Embryonic digit morphogenesis
(GO:0042733)
Embryonic forelimb morphogenesis
(GO:0035115)
Embryonic hindlimb morphogenesis
(GO:0035116)
Embryonic skeletal system morphogenesis
(GO:0048704)
Hair follicle development
(GO:0001942)
Hmg box domain binding
(GO:0071837)
Muscle organ development
(GO:0007517)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Post-embryonic development
(GO:0009791)
Protein binding
(GO:0005515)
Regulation of apoptotic process
(GO:0042981)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii transcription regulatory region sequence-specific dna binding
(GO:0000977)
Roof of mouth development
(GO:0060021)
Sequence-specific double-stranded dna binding
(GO:1990837)
Skeletal system development
(GO:0001501)
Transcription regulator complex
(GO:0005667)

Other Information

Proteins

Homeobox protein aristaless-like 4

Genular Protein ID: 2942033270

Symbol: ALX4_HUMAN

Name: Homeobox protein aristaless-like 4

UniProtKB Accession Codes:

Q9H161 Q96JN7 Q9H198 Q9HAY9

Database IDs:

Citations:

PubMed ID: 11017806

Title: Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

PubMed ID: 11017806

DOI: 10.1016/s0002-9297(07)62963-2

PubMed ID: 11106354

Title: The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

PubMed ID: 11106354

DOI: 10.1136/jmg.37.12.916

PubMed ID: 11137991

Title: Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

PubMed ID: 11137991

DOI: 10.1038/83703

PubMed ID: 11347906

Title: Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 11347906

DOI: 10.1093/dnares/8.2.85

PubMed ID: 11903336

Title: Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

PubMed ID: 11903336

DOI: 10.1034/j.1399-0004.2001.600506.x

PubMed ID: 19692347

Title: ALX4 dysfunction disrupts craniofacial and epidermal development.

PubMed ID: 19692347

DOI: 10.1093/hmg/ddp391

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 22829454

Title: ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

PubMed ID: 22829454

DOI: 10.1002/humu.22166

Sequence Information:

Length: 411
Mass: 44241
Checksum: D41780B230C7E55C
Sequence:

MNAETCVSYC ESPAAAMDAY YSPVSQSREG SSPFRAFPGG DKFGTTFLSA AAKAQGFGDA 
KSRARYGAGQ QDLATPLESG AGARGSFNKF QPQPSTPQPQ PPPQPQPQQQ QPQPQPPAQP 
HLYLQRGACK TPPDGSLKLQ EGSSGHSAAL QVPCYAKESS LGEPELPPDS DTVGMDSSYL 
SVKEAGVKGP QDRASSDLPS PLEKADSESN KGKKRRNRTT FTSYQLEELE KVFQKTHYPD 
VYAREQLAMR TDLTEARVQV WFQNRRAKWR KRERFGQMQQ VRTHFSTAYE LPLLTRAENY 
AQIQNPSWLG NNGAASPVPA CVVPCDPVPA CMSPHAHPPG SGASSVTDFL SVSGAGSHVG 
QTHMGSLFGA ASLSPGLNGY ELNGEPDRKT SSIAALRMKA KEHSAAISWA T

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: ALX4

Associated with

Other Information

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. PubMed ID: 11017806

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). PubMed ID: 11106354

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. PubMed ID: 11137991

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. PubMed ID: 11347906

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. PubMed ID: 11903336

ALX4 dysfunction disrupts craniofacial and epidermal development. PubMed ID: 19692347

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. PubMed ID: 22829454