SEMA3D
Semaphorin-3D
Also known as: coll-2, SEM3D_HUMAN, Sema-Z2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95025
- Gene
- SEMA3D
- Ensembl
- ENSG00000153993
- Chromosome
- 7
- Canonical length
- 777 aa
- Protein class
- Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Vesicles
- Secretome location
- Secreted in other tissues
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
777 residues, UniProt reviewed canonical sequence.
>O95025|SEMA3D
1 MNANKDERLK ARSQDFHLFP ALMMLSMTML FLPVTGTLKQ NIPRLKLTYK DLLLSNSCIP
61 FLGSSEGLDF QTLLLDEERG RLLLGAKDHI FLLSLVDLNK NFKKIYWPAA KERVELCKLA
121 GKDANTECAN FIRVLQPYNK THIYVCGTGA FHPICGYIDL GVYKEDIIFK LDTHNLESGR
181 LKCPFDPQQP FASVMTDEYL YSGTASDFLG KDTAFTRSLG PTHDHHYIRT DISEHYWLNG
241 AKFIGTFFIP DTYNPDDDKI YFFFRESSQE GSTSDKTILS RVGRVCKNDV GGQRSLINKW
301 TTFLKARLIC SIPGSDGADT YFDELQDIYL LPTRDERNPV VYGVFTTTSS IFKGSAVCVY
361 SMADIRAVFN GPYAHKESAD HRWVQYDGRI PYPRPGTCPS KTYDPLIKST RDFPDDVISF
421 IKRHSVMYKS VYPVAGGPTF KRINVDYRLT QIVVDHVIAE DGQYDVMFLG TDIGTVLKVV
481 SISKEKWNME EVVLEELQIF KHSSIILNME LSLKQQQLYI GSRDGLVQLS LHRCDTYGKA
541 CADCCLARDP YCAWDGNACS RYAPTSKRRA RRQDVKYGDP ITQCWDIEDS ISHETADEKV
601 IFGIEFNSTF LECIPKSQQA TIKWYIQRSG DEHREELKPD ERIIKTEYGL LIRSLQKKDS
661 GMYYCKAQEH TFIHTIVKLT LNVIENEQME NTQRAEHEEG KVKDLLAESR LRYKDYIQIL
721 SSPNFSLDQY CEQMWHREKR RQRNKGGPKW KHMQEMKKKR NRRHHRDLDE LPRAVATLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SEMA3D can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- spleen: 38 nTPM
- thyroid gland: 33 nTPM
- prostate: 6.4 nTPM
- blood vessel: 5 nTPM
- breast: 4.7 nTPM
- cervix: 4.3 nTPM
Single-cell type
- lymphatic endothelial cells: 477 nCPM
- leydig cells: 253 nCPM
- prostatic glandular cells: 245 nCPM
- early spermatids: 213 nCPM
- mesothelial cells: 208 nCPM
- peritubular myoid cells: 190 nCPM
Immune cell
- naive B-cell: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- midbrain: 16 nTPM
- cerebral cortex: 12 nTPM
- amygdala: 12 nTPM
- hypothalamus: 11 nTPM
- white matter: 7.6 nTPM
- spinal cord: 7.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SEMA3D.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 286 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Progressive sensorineural hearing impairment
- SEMA3D-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.66
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.76
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- forebrain development
- negative chemotaxis
- neural crest cell migration
- positive regulation of cell migration
- semaphorin-plexin signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Sema domain
- Immunoglobulin domain subtype
- Immunoglobulin-like domain
- Immunoglobulin-like fold
- WD40/YVTN repeat-like-containing domain superfamily
- PSI domain
- Semaphorin
- Immunoglobulin-like domain superfamily
- Sema domain superfamily
- IL-1Ra-like, immunoglobulin domain
- Sema domain
- Immunoglobulin domain
- Semaphorin-3D, Sema domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SEMA3D as an antibody target. Whether an autoantibody or antibody against SEMA3D could matter depends on whether native SEMA3D is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SEMA3D is annotated as secreted, so native SEMA3D circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label SEMA3D as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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