Human Gene ALX4 (ENST00000652299.1) from GENCODE V43
Description: Homo sapiens ALX homeobox 4 (ALX4), mRNA. (from RefSeq NM_021926) RefSeq Summary (NM_021926): This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000652299.1 Gencode Gene: ENSG00000052850.8 Transcript (Including UTRs) Position: hg38 chr11:44,260,440-44,310,139 Size: 49,700 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr11:44,264,854-44,310,062 Size: 45,209 Coding Exon Count: 4
ID:ALX4_HUMAN DESCRIPTION: RecName: Full=Homeobox protein aristaless-like 4; FUNCTION: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. SUBUNIT: Binds DNA (By similarity). SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expression is likely to be restricted to bone. Found in parietal bone. DISEASE: Defects in ALX4 are the cause of parietal foramina 2 (PFM2) [MIM:609597]; also known as foramina parietalia permagna (FPP). PFM2 is an autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki- Shaffer syndrome. DISEASE: Defects in ALX4 are the cause of frontonasal dysplasia type 2 (FND2) [MIM:613451]. The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. DISEASE: Defects in ALX4 are a cause of Potocki-Shaffer syndrome (POSHS) [MIM:601224]. A contiguous gene syndrome caused by deletion of the 11p11.2 region. SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SEQUENCE CAUTION: Sequence=AAG23961.1; Type=Frameshift; Positions=314, 323, 340; Sequence=BAB47417.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALX4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H161
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.