Semaforiini-3D, SEMA3D (7q21.11)

 (13) SEMA3D (7q21.11), Semaphorin 3D

Muita nimiä: Sema-Z2, coll-2 (collapsin family member). Tämä geenin koodaama proteiini sitoo neuropiliiniä ja on tärkeä kardiovaskulaarisessa kehityksessä.

https://www.ncbi.nlm.nih.gov/gene/223117

Also known as coll-2; Sema-Z2

Summary. This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like   domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]

Expression. Biased expression in spleen (RPKM 23.4), thyroid (RPKM 18.9) and 13 other tissues See more

 

 Semaphorin-3D precursor https://www.ncbi.nlm.nih.gov/protein/NP_689967.2

777 aminoacids.  

Tässä  on760RNRR163 . rakenteessa pistä silmäänmuutamat kolmen aminohapon sarjat:  Kirjoitan ne neljän aminohapon avulla  ( edeltävän):

dlll, flll, rlll, nddd, yfff, fttt, kqqq, mkkk. (Henkilökohtaisesti kiinnittää huomiota toksisiin peptideihin luettu pqqp - jakso sillä  kilpirauhanen, jossa tätä geeniä ilmenee, on yksi   kohde elin josta tulee  vasta-ainereaktioita keliakiassa ja autoimmuunia thyreoidiittia)

 

Conserved Domains (4) summary

cd05871
Location:596 → 686

Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin

cd11252
Location:61 → 534

Sema_3D; The Sema domain, a protein interacting module, of semaphorin 3D (Sema3D)

smart00410
Location:611 → 680

IG_like; Immunoglobulin like

smart00423
Location:533 → 570

PSI; domain found in Plexins, Semaphorins and Integrins

 

REFERENCE   1  (residues 1 to 777)
  AUTHORS   Wang Z, Ding M et al. 
  TITLE     Decreased expression of semaphorin 3D is associated with genesis
            and development in colorectal cancer
  JOURNAL   World J Surg Oncol 15 (1), 67 (2017) PUBMED   28320475 

REFERENCE   2  (residues 1 to 777)
  AUTHORS   Martin-Sierra C et al. 
  TITLE     Variable expressivity and genetic heterogeneity involving DPT and
            SEMA3D genes in autosomal dominant familial Meniere's disease
  JOURNAL   Eur. J. Hum. Genet. 25 (2), 200-207 (2017) PUBMED   27876815

REFERENCE   3  (residues 1 to 777)
  AUTHORS   McGeachie MJ et al.
  TITLE     CTNNA3 and SEMA3D: Promising loci for asthma exacerbation
            identified through multiple genome-wide association studies
  JOURNAL   J. Allergy Clin. Immunol. 136 (6), 1503-1510 (2015)
   PUBMED   26073756

REFERENCE   4  (residues 1 to 777)
  AUTHORS   Binch AL et al. 
  TITLE     Class 3 semaphorins expression and association with innervation and
            angiogenesis within the degenerate human intervertebral disc
  JOURNAL   Oncotarget 6 (21), 18338-18354 (2015)
   PUBMED   26286962
  REMARK    GeneRIF: Data show significant increases in semaphorin3C, 3D and
            their receptor neuropilin-2 in degenerate samples which were shown
            to contain nerves and blood vessels, compared to non-degenerate
            samples without nerves and blood vessels.

REFERENCE   5  (residues 1 to 777)
  AUTHORS   Jiang Q et al. 
  TITLE     Functional loss of semaphorin 3C and/or semaphorin 3D and their
            epistatic interaction with ret are critical to Hirschsprung disease
            liability
  JOURNAL   Am. J. Hum. Genet. 96 (4), 581-596 (2015)
   PUBMED   25839327

Related articles in PubMed

1. Possible association of the semaphorin 3D gene (SEMA3D) with schizophrenia. Fujii T, et al. J Psychiatr Res, 2011 Jan. PMID 20684831
2. Semaphorin profiling of periodontal fibroblasts and osteoblasts. Lallier TE. J Dent Res, 2004 Sep. PMID 15329371 OBS!

See all (19) citations in PubMed
See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. Low SEMA3D expression is associated with colorectal cancer.
2. Novel mutation in SEMA3D segregates with the complete phenotype with variable expressivity in two pedigrees with autosomal dominant familial Meniere's disease.
3. Data show significant increases in semaphorin3C, 3D and their receptor neuropilin-2 in degenerate samples which were shown to contain nerves and blood vessels, compared to non-degenerate samples without nerves and blood vessels.
4. CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies
5. Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
6. Semaphorin 3d requires neuropilin 1 or PI3K/Akt, whereas semaphorin 3e requires plexin D1 in directing endothelial motility.
7. In the absence of Sema3d, endothelial tubes form in a region that is normally avascular
8. in this study we have analyzed three aminoacidic substitutions, A131T-SEMA3A, S598G-SEMA3A and E198K-SEMA3D. These variants result in an increase of SEMA proteins levels in the HSCR colon tissue.
9. This study provided strong evidence that SEMA3D confers susceptibility to schizophrenia, which could contribute to the neurodevelopmental impairments in the disorder.
10. Observational study of gene-disease association. (HuGE Navigator)

Submit: New GeneRIF Correction See all GeneRIFs (11)