ENSG00000101310


Homo sapiens

Features
Gene ID: ENSG00000101310
  
Biological name :SEC23B
  
Synonyms : Q15437 / SEC23B / Sec23 homolog B, coat complex II component
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: p11.23
Gene start: 18507482
Gene end: 18561415
  
Corresponding Affymetrix probe sets: 201582_at (Human Genome U133 Plus 2.0 Array)   201583_s_at (Human Genome U133 Plus 2.0 Array)   210293_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496507
Ensembl peptide - ENSP00000262544
Ensembl peptide - ENSP00000338844
Ensembl peptide - ENSP00000366685
Ensembl peptide - ENSP00000366695
Ensembl peptide - ENSP00000496118
Ensembl peptide - ENSP00000496460
Ensembl peptide - ENSP00000403971
Ensembl peptide - ENSP00000409882
Ensembl peptide - ENSP00000495008
NCBI entrez gene - 10483     See in Manteia.
OMIM - 610512
RefSeq - XM_017027593
RefSeq - NM_001172745
RefSeq - NM_001172746
RefSeq - NM_006363
RefSeq - NM_032985
RefSeq - NM_032986
RefSeq Peptide - NP_001166217
RefSeq Peptide - NP_006354
RefSeq Peptide - NP_116780
RefSeq Peptide - NP_116781
RefSeq Peptide - NP_001166216
swissprot - Q5QPE1
swissprot - Q5QPE2
swissprot - Q15437
Ensembl - ENSG00000101310
  
Related genetic diseases (OMIM): 224100 - Dyserythropoietic anemia, congenital, type II, 224100
  616858 - Cowden syndrome 7, 616858
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sec23bENSDARG00000019360Danio rerio
 SEC23BENSGALG00000008793Gallus gallus
 Q9D662ENSMUSG00000027429Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q15436 / SEC23A / Sec23 homolog A, coat complex II componentENSG0000010093484


Protein motifs (from Interpro)
Interpro ID Name
 IPR006895  Zinc finger, Sec23/Sec24-type
 IPR006896  Sec23/Sec24, trunk domain
 IPR006900  Sec23/Sec24, helical domain
 IPR007123  Gelsolin-like domain
 IPR012990  Sec23/Sec24 beta-sandwich
 IPR029006  ADF-H/Gelsolin-like domain superfamily
 IPR036174  Zinc finger, Sec23/Sec24-type superfamily
 IPR036175  Sec23/Sec24 helical domain superfamily
 IPR036180  Gelsolin-like domain superfamily
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR037364  Protein transport protein Sec23
 IPR037550  Sec23, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0090114 COPII-coated vesicle budding IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0012505 endomembrane system IDA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030127 COPII vesicle coat IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000036 Abnormality of the penis 
Show

 HP:0000158 Macroglossia "Increased length and width of the tongue." [pmid:19125428]
Show

 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
Show

 HP:0000221 Furrowed tongue "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428]
Show

 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
Show

 HP:0000365 Hearing loss 
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000545 Myopia 
Show

 HP:0000717 Autism 
Show

 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
Show

 HP:0000771 Gynecomastia 
Show

 HP:0000853 Goiter "An enlargement of the thyroid gland." [HPO:curators]
Show

 HP:0000872 Hashimoto thyroiditis 
Show

 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
Show

 HP:0000982 Palmoplantar keratoderma 
Show

 HP:0000995 Pigmented nevi "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators]
Show

 HP:0001028 Hemangiomas "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators]
Show

 HP:0001048 Cavernous hemangioma "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:curators]
Show

 HP:0001053 Hypopigmented skin patches 
Show

 HP:0001081 Cholelithiasis 
Show

 HP:0001156 Brachydactyly 
Show

 HP:0001249 Mental retardation 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001482 Subcutaneous nodules 
Show

 HP:0001508 Failure to thrive 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001923 Reticulocytosis 
Show

 HP:0002516 Increased intracranial pressure 
Show

 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
Show

 HP:0002808 Kyphosis 
Show

 HP:0002858 Meningioma 
Show

 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
Show

 HP:0002895 Papillary thyroid carcinoma 
Show

 HP:0003002 Breast cancer 
Show

 HP:0003352 Endopolyploidy on chromosome studies of bone marrow 
Show

 HP:0003655 Deficient N-acetylglucosaminyltransferase II 
Show

 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0004390 Hamartomatous polyps "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestine. Patients with Cowden-Syndrom for example often have multpile hamartomatous gastrointestinal polyps." [HPO:curators]
Show

 HP:0005374 Cellular immunodeficiency 
Show

 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
Show

 HP:0005595 Hyperkeratosis, generalized 
Show

 HP:0006731 Follicular thyroid carcinoma 
Show

 HP:0007565 Multiple cafe-au-lait spots 
Show

 HP:0008675 Enlarged polycystic ovaries 
Show

 HP:0009720 Adenoma sebaceum "Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis." [HPO:curators]
Show

 HP:0010972 Anemia of inadequate production "A kind of `anemia` (HP:0001903) characterized by inadequate production of erythrocytes." [HPO:probinson]
Show

 HP:0012032 Lipoma "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417]
Show

 HP:0012062 Bone cyst "A fluid filled cavity that develops with a bone." [HPO:probinson]
Show

 HP:0012114 Endometrial carcinoma "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson]
Show

 HP:0012733 Macule "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson]
Show

 HP:0012740 Papilloma "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson]
Show

 HP:0012844 Trichilemmoma "A benign tumour originating from the outer root sheath of the hair follicle." [UToronto:htrang]
Show

 HP:0030075 Ductal carcinoma in situ "Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer." [pmid:24415964]
Show

 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
Show

 HP:0100579 Mucosal telangiectasiae "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken]
Show

 HP:0100780 Conjunctival hamartomas 
Show

 HP:0200008 Multiple intestinal polyps 
Show

 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
Show

 HP:0200063 Colorectal polyps 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr