Basic Information

Symbol
SEMA3D
RNA class
mRNA
Alias
Semaphorin 3D Sema-Z2 Coll-2 Sema Domain, Immunoglobulin Domain (Ig), Short Basic Domain, Secreted, (Semaphorin) 3D Semaphorin-3D Collapsin 2
Location (GRCh38)
7:84995195-85187056
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001384900.1
Sequence length
6772.0 nt
GC content
0.3692

Transcripts

ID Sequence Length GC content
NM_001384900.1 NCBI
AGAAAGACUGAGUCUCUCCCAGGACAGCUGCUGCGGUCACACCACAAAC… 6772 nt 0.3692
NM_001384901.1 NCBI
UGGCAAUCAGCAAGACUCCGUGGACGUAGGACCCUCCGAGCCAGUGAGA… 6564 nt 0.3566
NM_001384902.1 NCBI
UCGGAAAAGCGCAGUAUUCGGGUGGGAGUGACCCGAUUCUCCAGGUGCG… 7037 nt 0.3644
NM_001384903.1 NCBI
UCGGAAAAGCGCAGUAUUCGGGUGGGAGUGACCCGAUUCUCCAGUGAGA… 6696 nt 0.3580
NM_152754.3 NCBI
AGAAAGACUGAGUCUCUCCCAGGACAGCUGCUGCGGUCACACCACAAAC… 6640 nt 0.3678
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]

Forensic Context

A study in human cardiac stromal cells from arrhythmogenic cardiomyopathy (ACM) patients identified SEMA3D as a gene up-regulated in ACM cells via RNA-sequencing [Rainer et al. DOI:10.1186/s12864-018-4876-6].