Details for: ANOS1

Gene ID: 3730

Symbol: ANOS1

Ensembl ID: ENSG00000011201

Description: anosmin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 44.3315
    Cell Significance Index: -18.0100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.8637
    Cell Significance Index: -18.0100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.4973
    Cell Significance Index: -14.2200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.7645
    Cell Significance Index: 56.5200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.6456
    Cell Significance Index: 11.1500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 1.0627
    Cell Significance Index: 14.8600
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.9212
    Cell Significance Index: 5.5200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.8598
    Cell Significance Index: 48.2500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8501
    Cell Significance Index: 38.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.8041
    Cell Significance Index: 20.6700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7172
    Cell Significance Index: 136.4800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.6965
    Cell Significance Index: 11.1800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6901
    Cell Significance Index: 8.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4427
    Cell Significance Index: 6.0400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3277
    Cell Significance Index: 32.4200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3240
    Cell Significance Index: 292.5300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.3086
    Cell Significance Index: 15.6000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2263
    Cell Significance Index: 100.0600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1949
    Cell Significance Index: 39.1000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1876
    Cell Significance Index: 30.5200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.1713
    Cell Significance Index: 2.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1508
    Cell Significance Index: 54.1000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1478
    Cell Significance Index: 16.0800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1331
    Cell Significance Index: 92.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1161
    Cell Significance Index: 218.5100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0640
    Cell Significance Index: 3.8400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0432
    Cell Significance Index: 1.9100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0335
    Cell Significance Index: 2.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0268
    Cell Significance Index: 0.7500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0139
    Cell Significance Index: 0.4000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0042
    Cell Significance Index: 0.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0022
    Cell Significance Index: 1.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0024
    Cell Significance Index: -3.6600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0036
    Cell Significance Index: -0.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0040
    Cell Significance Index: -0.1400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0061
    Cell Significance Index: -0.1200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0065
    Cell Significance Index: -0.1900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0066
    Cell Significance Index: -12.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0115
    Cell Significance Index: -15.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0122
    Cell Significance Index: -1.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0140
    Cell Significance Index: -10.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0179
    Cell Significance Index: -9.7900
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0234
    Cell Significance Index: -0.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0267
    Cell Significance Index: -19.7900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0277
    Cell Significance Index: -20.3000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0366
    Cell Significance Index: -16.6300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0372
    Cell Significance Index: -7.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0375
    Cell Significance Index: -2.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0383
    Cell Significance Index: -21.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0387
    Cell Significance Index: -6.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0452
    Cell Significance Index: -0.9800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0459
    Cell Significance Index: -1.7400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0476
    Cell Significance Index: -1.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0550
    Cell Significance Index: -15.8200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0686
    Cell Significance Index: -1.4600
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0721
    Cell Significance Index: -0.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0942
    Cell Significance Index: -9.6200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1012
    Cell Significance Index: -12.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1017
    Cell Significance Index: -21.4200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1133
    Cell Significance Index: -11.8000
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.1134
    Cell Significance Index: -1.3000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1146
    Cell Significance Index: -7.9300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1195
    Cell Significance Index: -16.4100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1396
    Cell Significance Index: -18.0400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1405
    Cell Significance Index: -2.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1456
    Cell Significance Index: -24.8700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1470
    Cell Significance Index: -7.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1498
    Cell Significance Index: -19.2000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1551
    Cell Significance Index: -1.2800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1596
    Cell Significance Index: -1.9900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1614
    Cell Significance Index: -10.8500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1636
    Cell Significance Index: -19.0700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1753
    Cell Significance Index: -4.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1795
    Cell Significance Index: -13.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1893
    Cell Significance Index: -21.6900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2073
    Cell Significance Index: -4.3000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.2170
    Cell Significance Index: -2.6300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2192
    Cell Significance Index: -11.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2495
    Cell Significance Index: -11.7300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2496
    Cell Significance Index: -3.1500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2562
    Cell Significance Index: -18.1200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2740
    Cell Significance Index: -5.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2766
    Cell Significance Index: -14.3700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2818
    Cell Significance Index: -4.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2820
    Cell Significance Index: -5.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3065
    Cell Significance Index: -19.3200
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.3067
    Cell Significance Index: -3.5100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.3091
    Cell Significance Index: -4.4000
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.3206
    Cell Significance Index: -3.3400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3333
    Cell Significance Index: -6.5900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3421
    Cell Significance Index: -22.0700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3570
    Cell Significance Index: -5.3800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3624
    Cell Significance Index: -6.0700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3640
    Cell Significance Index: -7.9700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3669
    Cell Significance Index: -8.8000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3781
    Cell Significance Index: -12.3800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4125
    Cell Significance Index: -14.4500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.4198
    Cell Significance Index: -3.2300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.4455
    Cell Significance Index: -10.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4556
    Cell Significance Index: -21.2400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Cellular localization:** ANOS1 is expressed in various cell types, including neurons, epithelial cells, and immune cells. 2. **Adhesion molecule-like structure:** ANOS1 exhibits a unique adhesion molecule-like structure, which enables it to interact with other proteins and influence cellular behavior. 3. **Signaling pathways:** ANOS1 is involved in multiple signaling pathways, including those mediated by receptor tyrosine kinases (RTKs) and fibroblast growth factor receptors (FGFRs). 4. **Regulation of axon guidance:** ANOS1 plays a critical role in axon guidance, a process essential for the proper development and function of the nervous system. **Pathways and Functions:** 1. **Axon guidance:** ANOS1 interacts with other proteins to regulate axon growth and guidance, influencing the formation of neural connections. 2. **Cell adhesion:** ANOS1 modulates cell adhesion, enabling cells to interact with their environment and respond to signals. 3. **Signaling by RTKs and FGFRs:** ANOS1 is involved in the signaling pathways of RTKs and FGFRs, influencing cell proliferation, differentiation, and survival. 4. **Negative regulation of FGFR signaling:** ANOS1 can inhibit FGFR signaling, which may help regulate the activity of these receptors and prevent excessive signaling. **Clinical Significance:** 1. **Neurological disorders:** Dysregulation of ANOS1 has been implicated in various neurological disorders, including autism spectrum disorder, schizophrenia, and amyotrophic lateral sclerosis (ALS). 2. **Cancer:** ANOS1 has been identified as a potential oncogene, with overexpression associated with cancer progression and metastasis. 3. **Therapeutic potential:** Targeting ANOS1 may offer a novel therapeutic strategy for the treatment of neurological disorders and cancer. 4. **Immunological significance:** ANOS1 has been shown to influence the function of immune cells, including granulocytes and monocytes, highlighting its potential role in immune-related disorders. In conclusion, ANOS1 is a multifunctional protein that plays a critical role in the development and function of the nervous system. Its dysregulation has been implicated in various neurological disorders and cancer, highlighting its importance as a potential therapeutic target. Further research is needed to fully elucidate the mechanisms by which ANOS1 influences cellular behavior and to develop effective therapeutic strategies.

Genular Protein ID: 1875346552

Symbol: KALM_HUMAN

Name: Adhesion molecule-like X-linked

UniProtKB Accession Codes:

P23352 B2RPF8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 1 EvolutionaryTrace 1 GO 12 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1913827

Title: The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

PubMed ID: 1913827

DOI: 10.1016/0092-8674(91)90193-3

PubMed ID: 1303284

Title: Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.

PubMed ID: 1303284

DOI: 10.1038/ng1292-305

PubMed ID: 1922361

Title: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

PubMed ID: 1922361

DOI: 10.1038/353529a0

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 7590336

Title: Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome.

PubMed ID: 7590336

DOI: 10.1016/0378-1119(95)00481-k

PubMed ID: 8842728

Title: The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component.

PubMed ID: 8842728

DOI: 10.1093/hmg/5.8.1109

PubMed ID: 8832397

Title: Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.

PubMed ID: 8832397

DOI: 10.1242/jcs.109.7.1749

PubMed ID: 12007408

Title: Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.

PubMed ID: 12007408

DOI: 10.1016/s0092-8674(02)00713-4

PubMed ID: 19696444

Title: Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.

PubMed ID: 19696444

DOI: 10.1074/jbc.m109.049155

PubMed ID: 15949815

Title: Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling.

PubMed ID: 15949815

DOI: 10.1016/j.jmb.2005.04.031

PubMed ID: 8504298

Title: Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

PubMed ID: 8504298

DOI: 10.1093/hmg/2.4.373

PubMed ID: 8989261

Title: Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

PubMed ID: 8989261

DOI: 10.1210/jcem.82.1.3692

PubMed ID: 9589672

Title: A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

PubMed ID: 9589672

DOI: 10.1210/jcem.83.5.4817

PubMed ID: 11297579

Title: The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

PubMed ID: 11297579

DOI: 10.1210/jcem.86.4.7420

PubMed ID: 15471890

Title: The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

PubMed ID: 15471890

DOI: 10.1093/hmg/ddh309

PubMed ID: 15001591

Title: Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

PubMed ID: 15001591

DOI: 10.1210/jc.2003-030476

PubMed ID: 15605412

Title: Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

PubMed ID: 15605412

DOI: 10.1002/humu.9298

PubMed ID: 17054399

Title: Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

PubMed ID: 17054399

DOI: 10.1371/journal.pgen.0020175

PubMed ID: 17223984

Title: Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.

PubMed ID: 17223984

DOI: 10.1111/j.1365-2265.2006.02702.x

PubMed ID: 17213338

Title: KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

PubMed ID: 17213338

DOI: 10.1093/molehr/gal108

PubMed ID: 21168128

Title: A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.

PubMed ID: 21168128

DOI: 10.1016/j.fertnstert.2010.11.045

PubMed ID: 20530987

Title: Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.

PubMed ID: 20530987

DOI: 10.1007/bf03346695

PubMed ID: 22927827

Title: SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

PubMed ID: 22927827

DOI: 10.1371/journal.pgen.1002896

PubMed ID: 23643382

Title: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

PubMed ID: 23643382

DOI: 10.1016/j.ajhg.2013.04.008

PubMed ID: 25077900

Title: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PubMed ID: 25077900

DOI: 10.1210/jc.2014-2110

Sequence Information:

  • Length: 680
  • Mass: 76112
  • Checksum: F491FE94FFD9250E
  • Sequence:
    • MVPGVPGAVL TLCLWLAASS GCLAAGPGAA AARRLDESLS AGSVQRARCA SRCLSLQITR 
ISAFFQHFQN NGSLVWCQNH KQCSKCLEPC KESGDLRKHQ CQSFCEPLFP KKSYECLTSC 
EFLKYILLVK QGDCPAPEKA SGFAAACVES CEVDNECSGV KKCCSNGCGH TCQVPKTLYK 
GVPLKPRKEL RFTELQSGQL EVKWSSKFNI SIEPVIYVVQ RRWNYGIHPS EDDATHWQTV 
AQTTDERVQL TDIRPSRWYQ FRVAAVNVHG TRGFTAPSKH FRSSKDPSAP PAPANLRLAN 
STVNSDGSVT VTIVWDLPEE PDIPVHHYKV FWSWMVSSKS LVPTKKKRRK TTDGFQNSVI 
LEKLQPDCDY VVELQAITYW GQTRLKSAKV SLHFTSTHAT NNKEQLVKTR KGGIQTQLPF 
QRRRPTRPLE VGAPFYQDGQ LQVKVYWKKT EDPTVNRYHV RWFPEACAHN RTTGSEASSG 
MTHENYIILQ DLSFSCKYKV TVQPIRPKSH SKAEAVFFTT PPCSALKGKS HKPVGCLGEA 
GHVLSKVLAK PENLSASFIV QDVNITGHFS WKMAKANLYQ PMTGFQVTWA EVTTESRQNS 
LPNSIISQSQ ILPSDHYVLT VPNLRPSTLY RLEVQVLTPG GEGPATIKTF RTPELPPSSA 
HRSHLKHRHP HHYKPSPERY

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.