Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84173
Gene name	ELMO domain containing 3
Gene symbol	ELMOD3
Synonyms (NCBI Gene)	DFNA81DFNB88LST3RBED1RBM29
Chromosome	2
Chromosome location	2p11.2
Summary	This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded prote

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777040	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

113

Show/Hide all (113)

miRTarBase ID	miRNA	Experiments
MIRT961100	hsa-miR-1184	CLIP-seq
MIRT961101	hsa-miR-1205	CLIP-seq
MIRT961102	hsa-miR-1224-3p	CLIP-seq
MIRT961103	hsa-miR-1260	CLIP-seq
MIRT961104	hsa-miR-1260b	CLIP-seq
MIRT961105	hsa-miR-1280	CLIP-seq
MIRT961106	hsa-miR-298	CLIP-seq
MIRT961107	hsa-miR-3158-5p	CLIP-seq
MIRT961108	hsa-miR-3675-5p	CLIP-seq
MIRT961109	hsa-miR-4529-5p	CLIP-seq
MIRT2523097	hsa-let-7a	CLIP-seq
MIRT2523098	hsa-let-7b	CLIP-seq
MIRT2523099	hsa-let-7c	CLIP-seq
MIRT2523100	hsa-let-7d	CLIP-seq
MIRT2523101	hsa-let-7e	CLIP-seq
MIRT2523102	hsa-let-7f	CLIP-seq
MIRT2523103	hsa-let-7g	CLIP-seq
MIRT2523104	hsa-let-7i	CLIP-seq
MIRT961100	hsa-miR-1184	CLIP-seq
MIRT961101	hsa-miR-1205	CLIP-seq
MIRT961102	hsa-miR-1224-3p	CLIP-seq
MIRT2523105	hsa-miR-1228	CLIP-seq
MIRT2523106	hsa-miR-1253	CLIP-seq
MIRT2523107	hsa-miR-1273e	CLIP-seq
MIRT2523108	hsa-miR-1294	CLIP-seq
MIRT2523109	hsa-miR-1468	CLIP-seq
MIRT2523110	hsa-miR-149	CLIP-seq
MIRT2523111	hsa-miR-1913	CLIP-seq
MIRT2523112	hsa-miR-1972	CLIP-seq
MIRT2523113	hsa-miR-202	CLIP-seq
MIRT961106	hsa-miR-298	CLIP-seq
MIRT2523114	hsa-miR-299-3p	CLIP-seq
MIRT2523115	hsa-miR-3064-5p	CLIP-seq
MIRT2523116	hsa-miR-3151	CLIP-seq
MIRT2523117	hsa-miR-3157-3p	CLIP-seq
MIRT961107	hsa-miR-3158-5p	CLIP-seq
MIRT2523118	hsa-miR-3162-3p	CLIP-seq
MIRT2523119	hsa-miR-3173-5p	CLIP-seq
MIRT2523120	hsa-miR-3175	CLIP-seq
MIRT2523121	hsa-miR-324-3p	CLIP-seq
MIRT2523122	hsa-miR-339-5p	CLIP-seq
MIRT2523123	hsa-miR-370	CLIP-seq
MIRT2523124	hsa-miR-4270	CLIP-seq
MIRT2523125	hsa-miR-4279	CLIP-seq
MIRT2523126	hsa-miR-4286	CLIP-seq
MIRT2523127	hsa-miR-4313	CLIP-seq
MIRT2523128	hsa-miR-4316	CLIP-seq
MIRT2523129	hsa-miR-4434	CLIP-seq
MIRT2523130	hsa-miR-4435	CLIP-seq
MIRT2523131	hsa-miR-4441	CLIP-seq
MIRT2523132	hsa-miR-4447	CLIP-seq
MIRT2523133	hsa-miR-4450	CLIP-seq
MIRT2523134	hsa-miR-4458	CLIP-seq
MIRT2523135	hsa-miR-4472	CLIP-seq
MIRT2523136	hsa-miR-4481	CLIP-seq
MIRT2523137	hsa-miR-4500	CLIP-seq
MIRT2523138	hsa-miR-4516	CLIP-seq
MIRT2523139	hsa-miR-4640-3p	CLIP-seq
MIRT2523140	hsa-miR-4649-3p	CLIP-seq
MIRT2523141	hsa-miR-4650-5p	CLIP-seq
MIRT2523142	hsa-miR-4662a-5p	CLIP-seq
MIRT2523143	hsa-miR-4677-3p	CLIP-seq
MIRT2523144	hsa-miR-4693-3p	CLIP-seq
MIRT2523145	hsa-miR-4716-3p	CLIP-seq
MIRT2523146	hsa-miR-4723-5p	CLIP-seq
MIRT2523147	hsa-miR-4745-5p	CLIP-seq
MIRT2523148	hsa-miR-4755-3p	CLIP-seq
MIRT2523149	hsa-miR-4766-5p	CLIP-seq
MIRT2523150	hsa-miR-4781-5p	CLIP-seq
MIRT2523151	hsa-miR-4787-5p	CLIP-seq
MIRT2523152	hsa-miR-4794	CLIP-seq
MIRT2523153	hsa-miR-491-5p	CLIP-seq
MIRT2523154	hsa-miR-502-5p	CLIP-seq
MIRT2523155	hsa-miR-548q	CLIP-seq
MIRT2523156	hsa-miR-550a	CLIP-seq
MIRT2523157	hsa-miR-555	CLIP-seq
MIRT2523158	hsa-miR-587	CLIP-seq
MIRT2523159	hsa-miR-604	CLIP-seq
MIRT2523160	hsa-miR-647	CLIP-seq
MIRT2523161	hsa-miR-874	CLIP-seq
MIRT2523162	hsa-miR-890	CLIP-seq
MIRT2523163	hsa-miR-98	CLIP-seq
MIRT961100	hsa-miR-1184	CLIP-seq
MIRT961101	hsa-miR-1205	CLIP-seq
MIRT961102	hsa-miR-1224-3p	CLIP-seq
MIRT961103	hsa-miR-1260	CLIP-seq
MIRT961104	hsa-miR-1260b	CLIP-seq
MIRT2523107	hsa-miR-1273e	CLIP-seq
MIRT961105	hsa-miR-1280	CLIP-seq
MIRT2523110	hsa-miR-149	CLIP-seq
MIRT2523111	hsa-miR-1913	CLIP-seq
MIRT2523112	hsa-miR-1972	CLIP-seq
MIRT961106	hsa-miR-298	CLIP-seq
MIRT2523114	hsa-miR-299-3p	CLIP-seq
MIRT2523115	hsa-miR-3064-5p	CLIP-seq
MIRT2523116	hsa-miR-3151	CLIP-seq
MIRT961107	hsa-miR-3158-5p	CLIP-seq
MIRT2523121	hsa-miR-324-3p	CLIP-seq
MIRT961108	hsa-miR-3675-5p	CLIP-seq
MIRT2523125	hsa-miR-4279	CLIP-seq
MIRT2679944	hsa-miR-433	CLIP-seq
MIRT2523132	hsa-miR-4447	CLIP-seq
MIRT2523133	hsa-miR-4450	CLIP-seq
MIRT2523135	hsa-miR-4472	CLIP-seq
MIRT961109	hsa-miR-4529-5p	CLIP-seq
MIRT2523141	hsa-miR-4650-5p	CLIP-seq
MIRT2523152	hsa-miR-4794	CLIP-seq
MIRT2679945	hsa-miR-483-3p	CLIP-seq
MIRT2523153	hsa-miR-491-5p	CLIP-seq
MIRT2523159	hsa-miR-604	CLIP-seq
MIRT2679946	hsa-miR-640	CLIP-seq
MIRT2523160	hsa-miR-647	CLIP-seq
MIRT2523162	hsa-miR-890	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IDA	17452337
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015031	Process	Protein transport	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060091	Component	Kinocilium	IEA
GO:0060117	Process	Auditory receptor cell development	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0120045	Process	Stereocilium maintenance	IEA

MIM	HGNC	e!Ensembl
615427	26158	ENSG00000115459

Q96FG2

Protein name

ELMO domain-containing protein 3 (RNA-binding motif and ELMO domain-containing protein 1) (RNA-binding motif protein 29) (RNA-binding protein 29)

Protein function

Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04727	ELMO_CED12	155 → 313	ELMO/CED-12 family	Family

Tissue specificity

TISSUE SPECIFICITY: Both isoform 1 and isoform 6 are widely expressed. {ECO:0000269|PubMed:24039609}.

Sequence

MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEA
YEWEPRVVSTEVVRAQEEWEAVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFK
KRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIAQCGLDSQDPVHGRVLQTIYK
KLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYAATFLHLAHVWR
TQRKTISDSGFVLKELEVLAKKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFK
DLTFTGESDLQSHSSEGVWLI

Sequence length

381

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 88	Pathogenic	rs587777040	RCV000055658	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 81	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 88	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ELMOD3-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal dominant 81	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	30284680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	30284680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31800155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30284680, 31800155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27993161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	30284680		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 88	Deafness	UNIPROT_DG	24039609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 88	Deafness	CLINGEN_DG	24039609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 88	Deafness	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 88	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 88	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	37708136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30284680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	24039609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	24039609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	31800155		★★★★★ ★☆☆☆☆ Found in Text Mining only

ELMOD3 (ELMO domain containing 3)