LOCUS       NM_021926               5727 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens ALX homeobox 4 (ALX4), mRNA.
ACCESSION   NM_021926
VERSION     NM_021926.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5727)
  AUTHORS   Peled,A., Sarig,O., Mohamad,J., Eskin-Schwartz,M., Vodo,D.,
            Bochner,R., Malchin,N., Isakov,O., Shomron,N., Fainberg,G.,
            Bertolini,M., Paus,R. and Sprecher,E.
  TITLE     Dominant frontonasal dysplasia with ectodermal defects results from
            increased activity of ALX4
  JOURNAL   Am J Med Genet A 191 (12), 2806-2812 (2023)
   PUBMED   37724761
  REMARK    GeneRIF: Dominant frontonasal dysplasia with ectodermal defects
            results from increased activity of ALX4.
REFERENCE   2  (bases 1 to 5727)
  AUTHORS   Fonteles,C.S., Finnell,R.H., Lei,Y., Zurita-Jimenez,M.E.,
            Monteiro,A.J., George,T.M. and Harshbarger,R.J.
  TITLE     De novo ALX4 variant detected in child with non-syndromic
            craniosynostosis
  JOURNAL   Braz J Med Biol Res 54 (11), e11396 (2021)
   PUBMED   34586326
  REMARK    GeneRIF: De novo ALX4 variant detected in child with non-syndromic
            craniosynostosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5727)
  AUTHORS   Walters,M.E., Lacassie,Y., Azamian,M., Franciskovich,R., Zapata,G.,
            Hernandez,P.P., Liu,P., Campbell,I.M., Bostwick,B.L. and
            Lalani,S.R.
  TITLE     Vertical transmission of a large calvarial ossification defect due
            to heterozygous variants of ALX4 and TWIST1
  JOURNAL   Am J Med Genet A 185 (3), 916-922 (2021)
   PUBMED   33369125
  REMARK    GeneRIF: Vertical transmission of a large calvarial ossification
            defect due to heterozygous variants of ALX4 and TWIST1.
REFERENCE   4  (bases 1 to 5727)
  AUTHORS   Xu,Q., Zhou,L., Yang,G., Meng,F., Wan,Y., Wang,L. and Zhang,L.
  TITLE     Overexpression of circ_0001445 decelerates hepatocellular carcinoma
            progression by regulating miR-942-5p/ALX4 axis
  JOURNAL   Biotechnol Lett 42 (12), 2735-2747 (2020)
   PUBMED   32856218
  REMARK    GeneRIF: Overexpression of circ_0001445 decelerates hepatocellular
            carcinoma progression by regulating miR-942-5p/ALX4 axis.
REFERENCE   5  (bases 1 to 5727)
  AUTHORS   Chen,C.H., Bournat,J.C., Wilken,N., Rosenfeld,J.A., Zhang,J.,
            Seth,A. and Jorgez,C.J.
  TITLE     Variants in ALX4 and their association with genitourinary defects
  JOURNAL   Andrology 8 (5), 1243-1255 (2020)
   PUBMED   32385972
  REMARK    GeneRIF: Variants in ALX4 and their association with genitourinary
            defects.
REFERENCE   6  (bases 1 to 5727)
  AUTHORS   Wu,Y.Q., Badano,J.L., McCaskill,C., Vogel,H., Potocki,L. and
            Shaffer,L.G.
  TITLE     Haploinsufficiency of ALX4 as a potential cause of parietal
            foramina in the 11p11.2 contiguous gene-deletion syndrome
  JOURNAL   Am J Hum Genet 67 (5), 1327-1332 (2000)
   PUBMED   11017806
REFERENCE   7  (bases 1 to 5727)
  AUTHORS   Qu,S., Tucker,S.C., Zhao,Q., deCrombrugghe,B. and Wisdom,R.
  TITLE     Physical and genetic interactions between Alx4 and Cart1
  JOURNAL   Development 126 (2), 359-369 (1999)
   PUBMED   9847249
REFERENCE   8  (bases 1 to 5727)
  AUTHORS   Bartsch,O., Wuyts,W., Van Hul,W., Hecht,J.T., Meinecke,P.,
            Hogue,D., Werner,W., Zabel,B., Hinkel,G.K., Powell,C.M.,
            Shaffer,L.G. and Willems,P.J.
  TITLE     Delineation of a contiguous gene syndrome with multiple exostoses,
            enlarged parietal foramina, craniofacial dysostosis, and mental
            retardation, caused by deletions in the short arm of chromosome 11
  JOURNAL   Am J Hum Genet 58 (4), 734-742 (1996)
   PUBMED   8644736
REFERENCE   9  (bases 1 to 5727)
  AUTHORS   McGaughran,J.M., Ward,H.B. and Evans,D.G.
  TITLE     WAGR syndrome and multiple exostoses in a patient with
            del(11)(p11.2p14.2)
  JOURNAL   J Med Genet 32 (10), 823-824 (1995)
   PUBMED   8558565
REFERENCE   10 (bases 1 to 5727)
  AUTHORS   Mavrogiannis,L.A. and Wilkie,A.O.M.
  TITLE     Enlarged Parietal Foramina
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103854.2 and AJ404888.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 27, 2018 this sequence version replaced NM_021926.3.
            
            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,
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB058691.1, AJ404888.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000652299.1/ ENSP00000498217.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-381               AC103854.2         25943-26323
            382-697             AJ404888.1         357-672
            698-698             AC103854.2         60578-60578
            699-1518            AJ404888.1         674-1493
            1519-5727           AC103854.2         71434-75642
FEATURES             Location/Qualifiers
     source          1..5727
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..5727
                     /gene="ALX4"
                     /gene_synonym="CRS5; FND2"
                     /note="ALX homeobox 4"
                     /db_xref="GeneID:60529"
                     /db_xref="HGNC:HGNC:450"
                     /db_xref="MIM:605420"
     exon            1..543
                     /gene="ALX4"
                     /gene_synonym="CRS5; FND2"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1313
                     /gene="ALX4"
                     /gene_synonym="CRS5; FND2"
                     /note="homeodomain transcription factor ALX4;
                     aristaless-like homeobox 4"
                     /codon_start=1
                     /product="homeobox protein aristaless-like 4"
                     /protein_id="NP_068745.2"
                     /db_xref="CCDS:CCDS31468.1"
                     /db_xref="GeneID:60529"
                     /db_xref="HGNC:HGNC:450"
                     /db_xref="MIM:605420"
                     /translation="MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFG
                     TTFLSAAAKAQGFGDAKSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPP
                     PQPQPQQQQPQPQPPAQPHLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESS
                     LGEPELPPDSDTVGMDSSYLSVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNR
                     TTFTSYQLEELEKVFQKTHYPDVYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFG
                     QMQQVRTHFSTAYELPLLTRAENYAQIQNPSWLGNNGAASPVPACVVPCDPVPACMSP
                     HAHPPGSGASSVTDFLSVSGAGSHVGQTHMGSLFGAASLSPGLNGYELNGEPDRKTSS
                     IAALRMKAKEHSAAISWAT"
     exon            544..854
                     /gene="ALX4"
                     /gene_synonym="CRS5; FND2"
                     /inference="alignment:Splign:2.1.0"
     exon            855..983
                     /gene="ALX4"
                     /gene_synonym="CRS5; FND2"
                     /inference="alignment:Splign:2.1.0"
     exon            984..5727
                     /gene="ALX4"
                     /gene_synonym="CRS5; FND2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aaactcccag ccaaggcgcg cggtggcgtc ctcgcgccct cgctcgcgtc cccgcccgcc
       61 gcctgcgcaa gccaggcatg aatgctgaga cttgcgtctc ttactgcgag tcgccggccg
      121 ctgccatgga cgcctactac agcccggtgt cgcagagtcg ggagggctcg tcgcctttta
      181 gggcatttcc cggaggcgac aagttcggca caactttcct gtcggccgcc gccaaagcac
      241 agggattcgg ggacgccaag agccgggccc gttacggcgc tgggcagcag gacctggcga
      301 cacccctgga gagtggagct ggggcgcggg gctcctttaa caagttccag ccccagccgt
      361 cgaccccgca gccccagccg ccgccgcagc cgcagccgca gcagcagcag ccgcagcccc
      421 agccgcccgc gcaaccgcat ctttacttgc agcgaggcgc ctgcaagacg cccccggacg
      481 gcagcctcaa actccaggaa ggcagcagcg gccacagcgc ggccttgcag gttccctgct
      541 acgctaaaga gagctccctg ggtgagccag agttaccccc tgactctgac actgtgggga
      601 tggacagcag ctacctgagt gtcaaggagg ctggggtgaa ggggccccag gaccgggcca
      661 gctcagacct ccccagccca ttggagaagg ccgactcaga gagcaacaag ggcaagaagc
      721 ggcggaaccg gaccaccttc accagctacc agctggagga gctggagaag gtcttccaga
      781 agacccacta cccagacgtg tatgcgcggg aacagctggc catgaggaca gacctcactg
      841 aggcccgcgt gcaggtctgg ttccagaacc gaagggccaa gtggaggaag cgggagcgtt
      901 ttgggcagat gcagcaggtt cgaacccact tctccactgc atatgagctg cccctcctca
      961 cccgagctga gaactacgcc cagattcaga acccgtcctg gctcggcaac aacggggctg
     1021 cctcaccagt gccagcctgc gtggtcccct gcgacccggt gcctgcctgc atgtcccctc
     1081 atgcccaccc ccctggctct ggggccagca gcgtcaccga cttcctgagt gtgtctgggg
     1141 ctggcagtca cgtgggccag acgcacatgg gcagcctgtt tggagcagcc agcctcagcc
     1201 caggcctcaa tggctacgag ctcaacggcg agccggaccg caagacctcg agcatcgcgg
     1261 ccctccgcat gaaggccaag gagcacagtg cggccatttc ctgggccaca tgacagggca
     1321 cccctgcccc gtccccacct cgggacacca tgggccacgc ccatgttttc caggccccca
     1381 gcctcccact cgactttcct cttaggaacc tggcctgggc caggggcctg accctcagca
     1441 ctttcagccg ccccaagtct gaggccccgt ggactgctgg gagggagggg gcagcaggcc
     1501 cctggcccct ccctggcact gaggccctga cccctgctcc cggccacagg cagtggagaa
     1561 agccaggtgg ccacgttttt cagcttcgca tccatgataa gctgaaagcg ctttcttgct
     1621 cccgcccact cctctgctct gcctagttga ccatgagtca atgctagatt tccatgcaga
     1681 cccagcagcc tcaccagccc agtcttgtcc atccttcccg ctcctagtgg ggtcccctgg
     1741 tcaccaggcc ggtggctgtg tgtctgaagc acaggctgcc ctgcagagcc agcctcctgc
     1801 cctcccatct ttctctccct gaaagcacac ggaatccgac ctgctggggc caaggcgcca
     1861 gcctccacct ccccccgaac agtgacgagt ctgacagagc ctggctgact gcatcctggc
     1921 tgtcccctag gctggataca cctggagaga gtgggcagag gatgacagga gctggagccg
     1981 aggacccctg ctgccatcta gcaatgccag tccccagggg agacacgggc cagcccctca
     2041 ctggacacta taggggagga gccagacctg agggaggctg agaacacaga tgccacaagg
     2101 gctcccatgg tgctagaaga aggaaaggtc ctgggagagg gggaggcatc cgggtggggc
     2161 gtgggcccgg gcagtcctcc cgctctccgg cctgcctggc atctggtaca gcggggaggt
     2221 ctgggcagct ttgttctcca tccagagccc agtcaggttc cctccaggag gatgcggagg
     2281 ggctcgtctc ttccctgccc taccctggcc cctccctggg gctgctcagc agtgtcccgg
     2341 catggaagga ctcacaactt cggaacacat aagctagagc ttgggggccg ggtggcagag
     2401 ggtcaaaagc tgcgtgcagg ctttgctaga ggacgtgtgg ccatgctcgg cctccaggcc
     2461 ctgctatggc ctcaaactga ctgtcctccc tgccatatct gtcagtgtca tcgctgccca
     2521 gagccttcca cggcagatgg gggctctgtg tccctccagg cactaggagg tgttgctctt
     2581 ctccacacag ctttccacac tccgtcctta cacttcttcc acagggacca ggactctctg
     2641 ccctctctcc agcctgcgga agggctcctg gcctgggctc ctcggtgtgg ctttgctatt
     2701 gcaaatgggg ctgtcaggat gccctcctga aaccaggctt cctgcctcca ggaagcgggg
     2761 ctctgtgcct gcctgcccga cccctgtagc ttgggtctgg ccctgagccc cagccctcac
     2821 ctcagctggg agtacacagt aaccgtccag aggcaggcct gtcagacccc aggtgggggg
     2881 tccctccagc aggcagcgcc ccgcattgaa gcgctcgcct tttctacctt ctcccttgat
     2941 tcctgtcatg gagtagggcc aggcccacta tgctcagggt cgtggacaca gaaaggcctc
     3001 ctgggttggg cggagggtaa acttggtgtt gttgaatgag ggtctctggg gttgggggtg
     3061 acagtctccc gcctgcctgg tgttctcatc tgctctagaa accaggctga ggaagggtct
     3121 ggctgtggcc tcccttaatg agtcagacct ctttgtgaac cgtagctcta aaatggatct
     3181 tatagaggtg aaagggtctt ggacattgaa ttaaatgttc ttggaggctt ggctttaagt
     3241 gtttcaaata tttgaggatt tggagtgact tttgggaagt tttttctagt tctgaggttc
     3301 gctgaaatga cccagactcc cccaaaatct agccagggaa aggaagaact taaggctggg
     3361 aacagtttcc ccatttctcc cccctttcct tctgaaatgc tcatggctga ggaaggatgg
     3421 ggaaggaagg aactttcacc ttgggtcttt ctcacccatg agagaatcag gacaaagagg
     3481 aggagagcca ggtagctcca gagtgggcca ggagggagag caagggaatc aggacaaaga
     3541 ggaggacaga caggtagctc cagagcaggc agggagggag agtgagagct ttaagggggc
     3601 tcttccgcag tggcccccgg cactcagttc ctccatgcgt ctgctctctg gctgggctag
     3661 acccaagtca ggcaaatttc aacccaaaag cttgagaaga aaaggcgtct attagaagac
     3721 tctgtggcta tggctgcctg tcccaacaca cccaggaagt gtctaggatt aaacatgcca
     3781 atgtgaaaca ttcctgttca tctcgtcaaa ggcagccacg taccccaggc ctgtcctctg
     3841 tggcttggcc cagcccttgg gggccaccta accacactaa gtatgatagg accaccgagt
     3901 tgggaggaag cttagaaacc ctctagttag tccagtccct tcacaacaga gaagaccctg
     3961 gcccagagtg gagacatgac tgccctgacc tgtacttgcc ctgagactag gctgagagag
     4021 gagcctggga cgtgccaccc agggtgtgag ggcctgggct tcgttggcac caggggcggc
     4081 cggtgctgca tggagctccc ctctccaatg cctcatgggc attcactcag cagctcagtt
     4141 ctccagaaga gaaccttggg gcccagtccc ttccaagaca ggtggctagg cccaaccttc
     4201 tgcactgcag agcagggggc cactgccgtg tcagctccta ggatgactga gcaagtcagg
     4261 gcagctgccc aaggccatct ggagctaaag ctcatgaagg caggtggaga gaagcatcta
     4321 cctgccacgt ggttcattgc tatgcgaata agctaagaga ggtgaggatt tcctttggat
     4381 acctgcctaa gatctcaaca gagatggcaa cttaaaaata aagtcgtggg tagccggcag
     4441 atggatgggc agcctcccca cactgacagc ctccagtccc tgctgggcac aggtctcagc
     4501 atggcaaggc ttgacactaa ggtgctgcta ctgccctcca gatgccagca ctactcctgg
     4561 ggcatgggag cgagggctct ggggggcaca cagagaggct tgtctccaag gctgaaatag
     4621 cacttggagg acatgggctt ttagaacttt ccttgaattc ttttaactat acttgattct
     4681 cagcgctcac taccgtgcct ccagcttcgg gaagcacggt ggccaggtta gctcaaagac
     4741 actgcgatgg ggtaggtgca gcaagtgtgg ggtgggtccc cagcacacac agctgtgatc
     4801 acactggacc cagctccgtg ccccatctcc tgtcatttcg gctgggcaga cgagggacgc
     4861 ttccatgaaa actacgtacc ctgcttatgc agtcattccc tccctgggct agacagtggg
     4921 gggccatctt cgagaacctg aaagacacgc gggggttcct ggtctgtttc atggccctta
     4981 ctgtccagtg caaaggcaaa caggcctagc tgggggagga tggttggtaa actggccccc
     5041 aggataatac tctgtgacta tccagttaaa aaataagaag gtgacaatga cccatcaacc
     5101 ccacttcact tctttcagga tgctgtaggg aggaaaggtg cttccatgac ctaacctcgg
     5161 cctctccttt cttccctctt cactcacaca catagagcta ggcctttata ctactgattt
     5221 tgaaggacag ttttcaatgt ctaatcatct gtttaggtgt gcagtggttg aaaaaagaaa
     5281 gctgagtgct agaaggaaca tgaacctcaa ccgttactta ttgttctcat tgtaagatat
     5341 tttaaccctg tataaatgca acttttcctt tagcttaatg gcctggggtg gaatattaaa
     5401 aatatatatt aaaaatacag taaaaatcca gaaaaatgta aaaaaaaaaa tgaggtcggt
     5461 tccataaagt tttactgcct ataccaccat gtaactacat tatagcaaaa tattaaaaga
     5521 aacgttcttg ccttttaaag taagttattg cacttacatc ttttttggga gaggaggaac
     5581 acggatggga aggagatgta ggggcccagg catggggcaa aatggagtgc agaggtagcc
     5641 gggcactccc agaacaccct ttgctggccc agcccaaact gtttggttgt tgttatttgc
     5701 aataaactcc ttctccttcc tcctctc
//
