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ALX4

GENERAL INFORMATION

Gene name

 ALX4

Gene description

 ALX homeobox 4

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enhanced (testis cancer)
HPA (cell line):Cell line enhanced (AN3-CA, BJ, HEK93, HEL, K-562, SiHa)
HPA (normal tissue):Tissue enhanced (breast)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enhanced (testis cancer)

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

Gene name

 ALX4 (HGNC Symbol)

Synonyms

 FPP, KIAA1788, PFM, PFM2

Description

 ALX homeobox 4 (HGNC Symbol)

Entrez gene summary

 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, mental retardation, 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]

Chromosome

 11

Cytoband

 p11.2

Chromosome location (bp)

 44260444 - 44310166

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000052850 (version 83.38)

Entrez gene

 60529

UniProt

 Q9H161 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H161

Antibodypedia

 ALX4 antibodies

PROTEIN BROWSER
ALX4-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ALX4-001
ENSP00000332744
ENST00000329255
Q9H161 [Direct mapping]
Homeobox protein aristaless-like 4
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Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
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GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0001501 [skeletal system development]
GO:0001942 [hair follicle development]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007389 [pattern specification process]
GO:0007517 [muscle organ development]
GO:0009791 [post-embryonic development]
GO:0009952 [anterior/posterior pattern specification]
GO:0035108 [limb morphogenesis]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035116 [embryonic hindlimb morphogenesis]
GO:0042733 [embryonic digit morphogenesis]
GO:0042981 [regulation of apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046982 [protein heterodimerization activity]
GO:0048565 [digestive tract development]
GO:0048704 [embryonic skeletal system morphogenesis]
GO:0048705 [skeletal system morphogenesis]
GO:0060021 [palate development]
GO:0071837 [HMG box domain binding]
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 411 aa
44.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.