LRMDA (leucine rich melanocyte differentiation associated)

Gene

• Entrez ID: 83938
• Gene name: Leucine rich melanocyte differentiation associated
• Gene symbol: LRMDA
• Synonyms (NCBI Gene): C10orf11, CDA017
• Chromosome: 10
• Chromosome location: 10q22.2-q22.3
• Summary: This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced tran

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146123023	C>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, frameshift variant
rs147768808	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs587776952	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587776953	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs878854351	C>A,T	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs886043155	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0030318	Process	Melanocyte differentiation	IBA	21873635
GO:0030318	Process	Melanocyte differentiation	IMP	23395477

Other IDs

• MIM: 614537
• HGNC: 23405
• e!Ensembl: ENSG00000148655

Protein

• UniProt ID: Q9H2I8
• Protein name: Leucine-rich melanocyte differentiation-associated protein
• Protein function: Required for melanocyte differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14580	LRR_9	5 → 150		Repeat

• Tissue specificity: TISSUE SPECIFICITY: In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells. {ECO:0000269|PubMed:23395477}.
• Sequence:

  MEKYLSLSGNHSSNKRSLEGLSAFRSLEELILDNNQLGDDLVLPGLPRLHTLTLNKNRIT
  DLENLLDHLAEVTPALEYLSLLGNVACPNELVSLEKDEEDYKRYRCFVLYKLPNLKFLDA
  QKVTRQEREEALVRGVFMKVVKPKASSEDVASSPERHYTPLPSASRELTSHQGVLGKCRY
  VYYGKNSEGNRFIRDDQL

• Sequence length: 198

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	30061737, 29892015
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30718926
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oculocutaneous albinism	ALBINISM, OCULOCUTANEOUS, TYPE VII, Oculocutaneous albinism type 7	rs387906240, rs121918167, rs121918169, rs121918170, rs28940876, rs104894314, rs61754388, rs61753185, rs104894313, rs61754393, rs28940879, rs61753178, rs61753180, rs61754375, rs61754387, rs104894316, rs104894317, rs61754399, rs28940881, rs730880270, rs387906317, rs387906318, rs121912621, rs730880271, rs387906560, rs104894130, rs121912778, rs387906561, rs387906562, rs587776952, rs587776953, rs886037643, rs886037644, rs61754381, rs62645914, rs61753254, rs61754365, rs62645902, rs759411189, rs878854351, rs797045970, rs763819379, rs144812594, rs775387808, rs373775562, rs116887602, rs1057518192, rs1057518722, rs540911439, rs772595552, rs1294369944, rs562624441, rs140365820, rs141949212, rs1555452574, rs772398324, rs1555452572, rs1482829698, rs146802593, rs202120684, rs1031268531, rs748901196, rs773970123, rs1579564717, rs147736385, rs1450652793, rs1289685376, rs1595660890, rs1312967591, rs1753106609	26818737, 23395477

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		30804561	ClinVar
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		30061737, 29892015	ClinVar
Breast cancer	Breast cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Anorexia	Anorexia			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS
Diabetes	Diabetes			GWAS
Thyrotoxic Periodic Paralysis	Thyrotoxic Periodic Paralysis			GWAS
Insomnia	Insomnia			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS
Restless Legs Syndrome	Restless Legs Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Albinism	Associate	35488210
Chromosome Deletion	Associate	19844253
Cognition Disorders	Associate	19844253
Diabetes Mellitus	Associate	36104811