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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3547
Gene name	Immunoglobulin superfamily member 1
Gene symbol	IGSF1
Synonyms (NCBI Gene)	CHTEIGCD1IGDC1INHBPPGSF2p120
Chromosome	X
Chromosome location	Xq26.1
Summary	This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multip

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514622	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs398122919	C>T	Pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs398122920	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs398122921	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1293658262	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1556177186	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1556181091	TTATACAGAGCAAACCCCATGCCTGCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1603404297	->G	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603404413	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1603404421	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

Show/Hide all (77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051138	hsa-miR-16-5p	CLASH	23622248
MIRT049172	hsa-miR-92a-3p	CLASH	23622248
MIRT047519	hsa-miR-10a-5p	CLASH	23622248
MIRT047415	hsa-miR-10b-5p	CLASH	23622248
MIRT043576	hsa-miR-148b-3p	CLASH	23622248
MIRT040516	hsa-miR-577	CLASH	23622248
MIRT039303	hsa-miR-425-5p	CLASH	23622248
MIRT1062506	hsa-miR-1275	CLIP-seq
MIRT1062507	hsa-miR-127-5p	CLIP-seq
MIRT1062508	hsa-miR-1302	CLIP-seq
MIRT1062509	hsa-miR-3160-3p	CLIP-seq
MIRT1062510	hsa-miR-3181	CLIP-seq
MIRT1062511	hsa-miR-3944-3p	CLIP-seq
MIRT1062512	hsa-miR-4298	CLIP-seq
MIRT1062513	hsa-miR-4435	CLIP-seq
MIRT1062514	hsa-miR-4487	CLIP-seq
MIRT1062515	hsa-miR-4492	CLIP-seq
MIRT1062516	hsa-miR-4498	CLIP-seq
MIRT1062517	hsa-miR-4505	CLIP-seq
MIRT1062518	hsa-miR-4525	CLIP-seq
MIRT1062519	hsa-miR-4665-5p	CLIP-seq
MIRT1062520	hsa-miR-4715-5p	CLIP-seq
MIRT1062521	hsa-miR-4723-5p	CLIP-seq
MIRT1062522	hsa-miR-4750	CLIP-seq
MIRT1062523	hsa-miR-556-5p	CLIP-seq
MIRT1062524	hsa-miR-558	CLIP-seq
MIRT1062525	hsa-miR-625	CLIP-seq
MIRT1062526	hsa-miR-762	CLIP-seq
MIRT1062527	hsa-let-7a	CLIP-seq
MIRT1062528	hsa-let-7b	CLIP-seq
MIRT1062529	hsa-let-7c	CLIP-seq
MIRT1062530	hsa-let-7d	CLIP-seq
MIRT1062531	hsa-let-7e	CLIP-seq
MIRT1062532	hsa-let-7f	CLIP-seq
MIRT1062533	hsa-let-7g	CLIP-seq
MIRT1062534	hsa-let-7i	CLIP-seq
MIRT1062535	hsa-miR-10a	CLIP-seq
MIRT1062536	hsa-miR-10b	CLIP-seq
MIRT1062537	hsa-miR-1254	CLIP-seq
MIRT1062538	hsa-miR-1294	CLIP-seq
MIRT1062539	hsa-miR-1321	CLIP-seq
MIRT1062540	hsa-miR-1827	CLIP-seq
MIRT1062541	hsa-miR-202	CLIP-seq
MIRT1062542	hsa-miR-2682	CLIP-seq
MIRT1062543	hsa-miR-3065-5p	CLIP-seq
MIRT1062544	hsa-miR-3116	CLIP-seq
MIRT1062545	hsa-miR-3145-3p	CLIP-seq
MIRT1062546	hsa-miR-3163	CLIP-seq
MIRT1062547	hsa-miR-34a	CLIP-seq
MIRT1062548	hsa-miR-34c-5p	CLIP-seq
MIRT1062549	hsa-miR-3612	CLIP-seq
MIRT1062550	hsa-miR-421	CLIP-seq
MIRT1062551	hsa-miR-4270	CLIP-seq
MIRT1062552	hsa-miR-4272	CLIP-seq
MIRT1062553	hsa-miR-4316	CLIP-seq
MIRT1062554	hsa-miR-4441	CLIP-seq
MIRT1062555	hsa-miR-4458	CLIP-seq
MIRT1062556	hsa-miR-449a	CLIP-seq
MIRT1062557	hsa-miR-449b	CLIP-seq
MIRT1062558	hsa-miR-449c	CLIP-seq
MIRT1062559	hsa-miR-4500	CLIP-seq
MIRT1062560	hsa-miR-450b-5p	CLIP-seq
MIRT1062561	hsa-miR-4677-3p	CLIP-seq
MIRT1062562	hsa-miR-4739	CLIP-seq
MIRT1062563	hsa-miR-4756-5p	CLIP-seq
MIRT1062564	hsa-miR-4795-3p	CLIP-seq
MIRT1062565	hsa-miR-515-3p	CLIP-seq
MIRT1062566	hsa-miR-518a-5p	CLIP-seq
MIRT1062567	hsa-miR-519e	CLIP-seq
MIRT1062568	hsa-miR-527	CLIP-seq
MIRT1062569	hsa-miR-548a-3p	CLIP-seq
MIRT1062570	hsa-miR-548e	CLIP-seq
MIRT1062571	hsa-miR-548f	CLIP-seq
MIRT1062572	hsa-miR-550a	CLIP-seq
MIRT1062573	hsa-miR-650	CLIP-seq
MIRT1062574	hsa-miR-661	CLIP-seq
MIRT1062575	hsa-miR-98	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002764	Process	Immune response-regulating signaling pathway	IBA
GO:0005515	Function	Protein binding	IPI	11266516, 12421765
GO:0005576	Component	Extracellular region	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11266516
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	11266516
GO:0016020	Component	Membrane	IEA
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IDA	11266516
GO:0034711	Function	Inhibin binding	IDA	11266516
GO:0038102	Function	Activin receptor antagonist activity	IDA	11266516

MIM	HGNC	e!Ensembl
300137	5948	ENSG00000147255

Q8N6C5

Protein name

Immunoglobulin superfamily member 1 (IgSF1) (Immunoglobulin-like domain-containing protein 1) (Inhibin-binding protein) (InhBP) (Pituitary gland-specific factor 2) (p120)

Protein function

Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13895	Ig_2	37 → 125	Immunoglobulin domain	Domain
PF13895	Ig_2	322 → 414	Immunoglobulin domain	Domain
PF13895	Ig_2	780 → 868	Immunoglobulin domain	Domain
PF13895	Ig_2	874 → 962	Immunoglobulin domain	Domain
PF13895	Ig_2	970 → 1060	Immunoglobulin domain	Domain
PF00047	ig	1070 → 1137	Immunoglobulin domain	Domain
PF13895	Ig_2	1162 → 1247	Immunoglobulin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3

Sequence

MTLDRPGEGATMLKTFTVLLFCIRMSLGMTSIVMDPQPELWIESNYPQAPWENITLWCRS
PSRISSKFLLLKDKTQMTWIRPSHKTFQVSFLIGALTESNAGLYRCCYWKETGWSKPSKV
LELEAPGQLPKPIFWIQAETPALPGCNVNILCHGWLQDLVFMLFKEGYAEPVDYQVPTGT
MAIFSIDNLTPEDEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPIMAP
GESLNLRCQGPIYGMTFALMRVEDLEKSFYHKKTIKNEANFFFQSLKIQDTGHYLCFYYD
ASYRGSLLSDVLKIWVTDTFPKTWLLARPSAVVQMGQNVSLRCRGPVDGVGLALYKKGED
KPLQFLDATSIDDNTSFFLNNVTYSDTGIYSCHYLLTWKTSIRMPSHNTVELMVVDKPPK
PSLSAWPSTVFKLGKAITLQCRVSHPVLEFSLEWEERETFQKFSVNGDFIISNVDGKGTG
TYSCSYRVETHPNIWSHRSEPLKLMGPAGYLTWNYVLNEAIRLSLIMQLVALLLVVLWIR
WKCRRLRIREAWLLGTAQGVTMLFIVTALLCCGLCNGVLIEETEIVMPTPKPELWAETNF
PLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTQSHTGSYHC
HSWEEMAVSEPSEALELVGTDILPKPVISASPTIRGQELQLRCKGWLAGMGFALYKEGEQ
EPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEKRPFKWSEPSEPLELVIKEMYPKPF
FKTWASPVVTPGARVTFNCSTPHQHMSFILYKDGSEIASSDRSWASPGASAAHFLIISVG
IGDGGNYSCRYYDFSIWSEPSDPVELVVTEFYPKPTLLAQPGPVVFPGKSVILRCQGTFQ
GMRFALLQEGAHVPLQFRSVSGNSADFLLHTVGAEDSGNYSCIYYETTMSNRGSYLSMPL
MIWVTDTFPKPWLFAEPSSVVPMGQNVTLWCRGPVHGVGYILHKEGEATSMQLWGSTSND
GAFPITNISGTSMGRYSCCYHPDWTSSIKIQPSNTLELLVTGLLPKPSLLAQPGPMVAPG
ENMTLQCQGELPDSTFVLLKEGAQEPLEQQRPSGYRADFWMPAVRGEDSGIYSCVYYLDS
TPFAASNHSDSLEIWVTDKPPKPSLSAWPSTMFKLGKDITLQCRGPLPGVEFVLEHDGEE
APQQFSEDGDFVINNVEGKGIGNYSCSYRLQAYPDIWSEPSDPLELVGAAGPVAQECTVG
NIVRSSLIVVVVVALGVVLAIEWKKWPRLRTRGSETDGRDQTIALEECNQEGEPGTPANS
PSSTSQRISVELPVPI

Sequence length

1336

Interactions

View interactions

	KEGG
	TGF-beta signaling pathway

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Thyroid cancer, nonmedullary, 1	Pathogenic	rs777462101	RCV005930249
X-linked central congenital hypothyroidism with late-onset testicular enlargement	Pathogenic; Likely pathogenic	rs1220996970, rs1309588455, rs2522216875, rs2522246692, rs2080511514, rs1556181091, rs398122919, rs398122920, rs397514622, rs398122921, rs1603404421, rs1603404413, rs1603404297	RCV001335742 RCV001733842 RCV003146187 RCV003337926 RCV004577632 RCV000033076 RCV000033077 RCV000033078 RCV000033079 RCV000033080 RCV000850405 RCV000850406 RCV000995567

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hypothyroidism due to TSH receptor mutations	Benign; Likely benign	rs181264169	RCV002272378
IGSF1-related disorder	Likely benign; Uncertain significance; Benign	rs780114018, rs767189919, rs755298160, rs779056528, rs146525641, rs149158944, rs772217311, rs374075974, rs376149601, rs143211470, rs147441841, rs147496468	RCV003948733 RCV003946408 RCV003414116 RCV003904248 RCV003914633 RCV003934776 RCV003937197 RCV003949436 RCV003957050 RCV003926080 RCV004751833 RCV003972893
Malignant tumor of esophagus	Benign	rs73568436	RCV005924537
Nonpapillary renal cell carcinoma	Uncertain significance	rs2124130714	RCV005930190
Ovarian cancer	Benign	rs73568436	RCV005924538

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acyl CoA Dehydrogenase Family Member 9 Deficiency of	Inhibit	32772515
Acyl CoA Dehydrogenase Family Member 9 Deficiency of	Associate	32772515
Alopecia Neurologic Defects and Endocrinopathy Syndrome	Associate	35456429
Autoimmune Hypophysitis	Associate	22193973
Azoospermia Nonobstructive	Associate	36017582
Combined Pituitary Hormone Deficiency	Associate	28515030, 30086211
Deafness X Linked 1	Associate	26840047
Dwarfism Pituitary	Associate	35456429
Endocrine System Diseases	Associate	30086211
Fragile X Syndrome	Associate	26840047, 33045800, 35456429
Growth Disorders	Associate	30086211, 33045800
Hemochromatosis	Associate	26840047
Hypersensitivity Delayed	Associate	31448769
Hypopituitarism	Associate	35456429
Hypothyroidism	Associate	23363888, 23966245, 26735259, 26840047, 28515030, 30086211, 31448769, 32772515, 33045800, 35456429
Immunologic Deficiency Syndromes	Associate	30086211, 33045800
Immunologic Deficiency Syndromes	Inhibit	33045800
Intellectual Disability	Associate	38462462
Intracranial Aneurysm	Associate	36451838
Jaundice Neonatal	Associate	30086211
Obesity	Associate	30086211, 33045800, 38462462
Overweight	Associate	33045800
Prolactin Deficiency Isolated	Associate	23966245, 26840047
Prostatic Neoplasms	Associate	35234293
Puberty Delayed	Associate	33045800

IGSF1 (immunoglobulin superfamily member 1)